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'en:one patient reported (last curated november 2012)'
(id=9088977 ; fe=en:one patient reported (last curated november 2012) ; type=1 ; niveau=200 ; luminosité=25 ; somme entrante=127666 creation date=2017-10-27 touchdate=2025-07-25 19:05:57.000)
≈ 6081 relations sortantes

  1. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:age at onset 8 to 55 years (mean 40 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=43
  2. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:age on onset - adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:age on onset - adolescence | rel=r_associated | relid=0 | w=43
  3. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:allelic disorder to androgen insensitivity syndrome (ais, 300068)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | rel=r_associated | relid=0 | w=43
  4. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:allelic disorder to opitz-kaveggia syndrome (305450)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to opitz-kaveggia syndrome (305450) | rel=r_associated | relid=0 | w=43
  5. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:allelic disorder to rett syndrome (312750)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to rett syndrome (312750) | rel=r_associated | relid=0 | w=43
  6. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:allelic to metaphyseal dysplasia without hypotrichosis (250460)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=43
  7. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:associated specifically with the gba d409h mutation (606463.0006)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated specifically with the gba d409h mutation (606463.0006) | rel=r_associated | relid=0 | w=43
  8. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:average age at onset 66 years although earlier onset may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset 66 years although earlier onset may occur | rel=r_associated | relid=0 | w=43
  9. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:based on one consanguineous palestinian family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one consanguineous palestinian family (last curated august 2015) | rel=r_associated | relid=0 | w=43
  10. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:cardiac and pulmonary dysfunction normalize in the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiac and pulmonary dysfunction normalize in the first year of life | rel=r_associated | relid=0 | w=43
  11. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:date of autopsy:date:pt:^patient:qn
    n1=en:one patient reported (last curated november 2012) | n2=en:date of autopsy:date:pt:^patient:qn | rel=r_associated | relid=0 | w=43
  12. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:death in childhood often results from respiratory insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood often results from respiratory insufficiency | rel=r_associated | relid=0 | w=43
  13. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)
    n1=en:one patient reported (last curated november 2012) | 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=43
  14. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:development of afebrile seizures later in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:development of afebrile seizures later in childhood | rel=r_associated | relid=0 | w=43
  15. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:early adult onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=43
  16. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:extreme phenotypic variability
    n1=en:one patient reported (last curated november 2012) | n2=en:extreme phenotypic variability | rel=r_associated | relid=0 | w=43
  17. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:favorable response to 3,4-diaminopyridine
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=43
  18. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:female carriers may be mildly affected
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=43
  19. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:female mutation carriers have earlier age at onset compared to male mutation carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:female mutation carriers have earlier age at onset compared to male mutation carriers | rel=r_associated | relid=0 | w=43
  20. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:foot deformities are present in infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=43
  21. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:genetic heterogeneity (see 125800)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 125800) | rel=r_associated | relid=0 | w=43
  22. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:genetic heterogeneity (see mcc1 deficiency 210200)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=43
  23. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:hearing loss ma be fluctuating or progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss ma be fluctuating or progressive | rel=r_associated | relid=0 | w=43
  24. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:improvement of abnormal muscle biopsy and cox deficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:improvement of abnormal muscle biopsy and cox deficiency | rel=r_associated | relid=0 | w=43
  25. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:increased frequency in individuals of asian descent
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in individuals of asian descent | rel=r_associated | relid=0 | w=43
  26. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | rel=r_associated | relid=0 | w=43
  27. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:madelung deformity more frequent and more severe in females
    n1=en:one patient reported (last curated november 2012) | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=43
  28. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:majority of cases are secondary to de novo mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases are secondary to de novo mutation | rel=r_associated | relid=0 | w=43
  29. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother
    n1=en:one patient reported (last curated november 2012) | 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=43
  30. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:may coexist with autoimmune vitiligo or thyroiditis
    n1=en:one patient reported (last curated november 2012) | n2=en:may coexist with autoimmune vitiligo or thyroiditis | rel=r_associated | relid=0 | w=43
  31. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:may progress to upper limbs
    n1=en:one patient reported (last curated november 2012) | n2=en:may progress to upper limbs | rel=r_associated | relid=0 | w=43
  32. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:mean age at diagnosis 16 years (range 6 to 22)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at diagnosis 16 years (range 6 to 22) | rel=r_associated | relid=0 | w=43
  33. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:mean age of onset 16 to 19 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=43
  34. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:most patients are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are asymptomatic | rel=r_associated | relid=0 | w=43
  35. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:no phenotypic manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:no phenotypic manifestations | rel=r_associated | relid=0 | w=43
  36. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:odor of 'sweaty feet'
    n1=en:one patient reported (last curated november 2012) | n2=en:odor of 'sweaty feet' | rel=r_associated | relid=0 | w=43
  37. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:one family has been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=43
  38. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:only female patients reported (last curated october 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:only female patients reported (last curated october 2013) | rel=r_associated | relid=0 | w=43
  39. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:onset in first decade (e.g. 180380.0028)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade (e.g. 180380.0028) | rel=r_associated | relid=0 | w=43
  40. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:onset of visual dysfunction in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=43
  41. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:patients may present with autoimmune features or primary immunodeficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may present with autoimmune features or primary immunodeficiency | rel=r_associated | relid=0 | w=43
  42. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:phenotypic overlap with frontotemporal dementia (600274)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=43
  43. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:presentation in first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation in first year of life | rel=r_associated | relid=0 | w=43
  44. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:presents at birth or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:presents at birth or early childhood | rel=r_associated | relid=0 | w=43
  45. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | rel=r_associated | relid=0 | w=43
  46. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:reported in a large hutterite family
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in a large hutterite family | rel=r_associated | relid=0 | w=43
  47. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=43
  48. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:some patients have cessation of seizures at a mean of 12 years
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have cessation of seizures at a mean of 12 years | rel=r_associated | relid=0 | w=43
  49. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:some patients have resolution of symptoms in first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have resolution of symptoms in first year of life | rel=r_associated | relid=0 | w=43
  50. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:some patients may need surgery or renal transplant
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may need surgery or renal transplant | rel=r_associated | relid=0 | w=43
  51. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:symptoms are aggravated by febrile illness
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms are aggravated by febrile illness | rel=r_associated | relid=0 | w=43
  52. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:symptoms improve during the summer
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms improve during the summer | rel=r_associated | relid=0 | w=43
  53. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:the most studied group is efe pygmies from ituri forest in northeast zaire
    n1=en:one patient reported (last curated november 2012) | n2=en:the most studied group is efe pygmies from ituri forest in northeast zaire | rel=r_associated | relid=0 | w=43
  54. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:three males in 1 family have been reported (last curated august 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:three males in 1 family have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=43
  55. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:three patients from 1 mexican family has been reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients from 1 mexican family has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=43
  56. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:two siblings of consanguineous turkish parents have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two siblings of consanguineous turkish parents have been reported | rel=r_associated | relid=0 | w=43
  57. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:two unrelated patients have been reported (last curated december 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=43
  58. en:one patient reported (last curated november 2012) -- r_associated #0: 43 / 1 -> en:up to 60% of female mutation carriers develop lobular breast cancer
    n1=en:one patient reported (last curated november 2012) | n2=en:up to 60% of female mutation carriers develop lobular breast cancer | rel=r_associated | relid=0 | w=43
  59. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient
    n1=en:one patient reported (last curated november 2012) | n2=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | rel=r_associated | relid=0 | w=42
  60. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:age of onset 36 to 55 years (mean 47)
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 36 to 55 years (mean 47) | rel=r_associated | relid=0 | w=42
  61. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)
    n1=en:one patient reported (last curated november 2012) | 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=42
  62. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:associated with deletion at chromosome 2q37
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with deletion at chromosome 2q37 | rel=r_associated | relid=0 | w=42
  63. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:attack frequency may occur several times per week to once per year
    n1=en:one patient reported (last curated november 2012) | n2=en:attack frequency may occur several times per week to once per year | rel=r_associated | relid=0 | w=42
  64. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:autosomal dominant inheritance has been rarely reported (187800)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant inheritance has been rarely reported (187800) | rel=r_associated | relid=0 | w=42
  65. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:autosomal recessive inheritance has been reported in 1 family
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has been reported in 1 family | rel=r_associated | relid=0 | w=42
  66. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:average age at onset 31 years (range 7 to 54)
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset 31 years (range 7 to 54) | rel=r_associated | relid=0 | w=42
  67. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:based on report of 1 family (last curated december 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 family (last curated december 2012) | rel=r_associated | relid=0 | w=42
  68. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> 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:one patient reported (last curated november 2012) | 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=42
  69. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:carrier males are unaffected except for psychiatric/behavioral abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | rel=r_associated | relid=0 | w=42
  70. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects
    n1=en:one patient reported (last curated november 2012) | 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=42
  71. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:death due to respiratory failure or infection
    n1=en:one patient reported (last curated november 2012) | n2=en:death due to respiratory failure or infection | rel=r_associated | relid=0 | w=42
  72. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | rel=r_associated | relid=0 | w=42
  73. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:fasting status:prthr:pt:^patient:ord:reported
    n1=en:one patient reported (last curated november 2012) | n2=en:fasting status:prthr:pt:^patient:ord:reported | rel=r_associated | relid=0 | w=42
  74. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)
    n1=en:one patient reported (last curated november 2012) | 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=42
  75. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:highly variable pathologic phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable pathologic phenotype | rel=r_associated | relid=0 | w=42
  76. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time
    n1=en:one patient reported (last curated november 2012) | 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=42
  77. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:incidence of 1 in 100,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=42
  78. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:increased frequency among japanese and chinese
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency among japanese and chinese | rel=r_associated | relid=0 | w=42
  79. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:infants are stillborn or die shortly after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=42
  80. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:itch, pain, and body malodor often
    n1=en:one patient reported (last curated november 2012) | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=42
  81. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:less severe phenotype in females
    n1=en:one patient reported (last curated november 2012) | n2=en:less severe phenotype in females | rel=r_associated | relid=0 | w=42
  82. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:majority of children die between 6 months and 5 yrs
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=42
  83. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:marked intrafamilial and interfamilial variability
    n1=en:one patient reported (last curated november 2012) | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=42
  84. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:may be fatal in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:may be fatal in infancy | rel=r_associated | relid=0 | w=42
  85. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:median age of onset of pigmentation - 8 years (range 1-15 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=42
  86. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:mortality approximately 20% in first 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mortality approximately 20% in first 2 years | rel=r_associated | relid=0 | w=42
  87. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:no chronic or permanent liver damage
    n1=en:one patient reported (last curated november 2012) | n2=en:no chronic or permanent liver damage | rel=r_associated | relid=0 | w=42
  88. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:one likely consanguineous turkish family has been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one likely consanguineous turkish family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=42
  89. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:onset at birth or in first days or life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at birth or in first days or life | rel=r_associated | relid=0 | w=42
  90. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:onset in childhood (3 to 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (3 to 10 years) | rel=r_associated | relid=0 | w=42
  91. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:onset in childhood or teenage years (7 to 16 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or teenage years (7 to 16 years) | rel=r_associated | relid=0 | w=42
  92. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:onset in late childhood or adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late childhood or adulthood | rel=r_associated | relid=0 | w=42
  93. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)
    n1=en:one patient reported (last curated november 2012) | 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=42
  94. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:onset of clinical features around puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of clinical features around puberty | rel=r_associated | relid=0 | w=42
  95. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:paternal anticipation bias
    n1=en:one patient reported (last curated november 2012) | n2=en:paternal anticipation bias | rel=r_associated | relid=0 | w=42
  96. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:patients may become totally dependent for all activities of daily living
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may become totally dependent for all activities of daily living | rel=r_associated | relid=0 | w=42
  97. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:patients with residual enzyme activity have childhood or adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with residual enzyme activity have childhood or adult onset | rel=r_associated | relid=0 | w=42
  98. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=42
  99. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=42
  100. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:skin manifestations may not be present
    n1=en:one patient reported (last curated november 2012) | n2=en:skin manifestations may not be present | rel=r_associated | relid=0 | w=42
  101. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:susceptibility to infections start in the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:susceptibility to infections start in the first year of life | rel=r_associated | relid=0 | w=42
  102. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:symptoms present from infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=42
  103. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:tumor predisposition syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:tumor predisposition syndrome | rel=r_associated | relid=0 | w=42
  104. en:one patient reported (last curated november 2012) -- r_associated #0: 42 / 0.977 -> en:variable clinical presentation
    n1=en:one patient reported (last curated november 2012) | n2=en:variable clinical presentation | rel=r_associated | relid=0 | w=42
  105. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:50% of cases represent new mutations associated with advanced paternal age
    n1=en:one patient reported (last curated november 2012) | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=41
  106. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:abnormal transferrin pattern tends to improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:abnormal transferrin pattern tends to improve with age | rel=r_associated | relid=0 | w=41
  107. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis
    n1=en:one patient reported (last curated november 2012) | n2=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | rel=r_associated | relid=0 | w=41
  108. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:affected infants die in neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:affected infants die in neonatal period | rel=r_associated | relid=0 | w=41
  109. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:age at onset ranges from early childhood to after age 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset ranges from early childhood to after age 50 years | rel=r_associated | relid=0 | w=41
  110. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:one patient reported (last curated november 2012) | 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=41
  111. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:associated with increased paternal age
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with increased paternal age | rel=r_associated | relid=0 | w=41
  112. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:autosomal recessive cytochrome b-positive cgd, type i
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive cytochrome b-positive cgd, type i | rel=r_associated | relid=0 | w=41
  113. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:based on report of 2 unrelated girls (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 unrelated girls (last curated august 2015) | rel=r_associated | relid=0 | w=41
  114. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years
    n1=en:one patient reported (last curated november 2012) | 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=41
  115. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies
    n1=en:one patient reported (last curated november 2012) | 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=41
  116. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:complete penetrance with variable expressivity
    n1=en:one patient reported (last curated november 2012) | n2=en:complete penetrance with variable expressivity | rel=r_associated | relid=0 | w=41
  117. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:death from pneumonia
    n1=en:one patient reported (last curated november 2012) | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=41
  118. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:death in childhood is frequent due to respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood is frequent due to respiratory failure | rel=r_associated | relid=0 | w=41
  119. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:early death
    n1=en:one patient reported (last curated november 2012) | n2=en:early death | rel=r_associated | relid=0 | w=41
  120. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:endocrine abnormalities confined to kidney
    n1=en:one patient reported (last curated november 2012) | n2=en:endocrine abnormalities confined to kidney | rel=r_associated | relid=0 | w=41
  121. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:family b had a milder phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:family b had a milder phenotype | rel=r_associated | relid=0 | w=41
  122. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:food intolerance
    n1=en:one patient reported (last curated november 2012) | n2=en:food intolerance | rel=r_associated | relid=0 | w=41
  123. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:frequently death in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:frequently death in infancy | rel=r_associated | relid=0 | w=41
  124. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity (see 214300)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 214300) | rel=r_associated | relid=0 | w=41
  125. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity (see hht1, 187300)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see hht1, 187300) | rel=r_associated | relid=0 | w=41
  126. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:half of cases show retarded head circumference equal to height retardation
    n1=en:one patient reported (last curated november 2012) | n2=en:half of cases show retarded head circumference equal to height retardation | rel=r_associated | relid=0 | w=41
  127. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430)
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | rel=r_associated | relid=0 | w=41
  128. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:incidence in united states of 1 in 55,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence in united states of 1 in 55,000 | rel=r_associated | relid=0 | w=41
  129. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:inflammatory bowel disease may develop in childhood or adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=41
  130. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:male infertility
    n1=en:one patient reported (last curated november 2012) | n2=en:male infertility | rel=r_associated | relid=0 | w=41
  131. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:males may be more affected than females
    n1=en:one patient reported (last curated november 2012) | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=41
  132. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:mean age at onset 23.9 years (range 10 to 55 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 23.9 years (range 10 to 55 years) | rel=r_associated | relid=0 | w=41
  133. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:mean age of diagnosis is 40 years (range 11 to 79 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of diagnosis is 40 years (range 11 to 79 years) | rel=r_associated | relid=0 | w=41
  134. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:mean age of onset about 62 years (45-79 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=41
  135. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:myoclonus is presenting symptom
    n1=en:one patient reported (last curated november 2012) | n2=en:myoclonus is presenting symptom | rel=r_associated | relid=0 | w=41
  136. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=41
  137. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | 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=41
  138. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:onset in childhood (mean 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (mean 6 years) | rel=r_associated | relid=0 | w=41
  139. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:onset in childhood (range 2 to 16 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range 2 to 16 years) | rel=r_associated | relid=0 | w=41
  140. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:onset in childhood of blistering and pigmentary changes
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood of blistering and pigmentary changes | rel=r_associated | relid=0 | w=41
  141. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:onset in second and third decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second and third decades of life | rel=r_associated | relid=0 | w=41
  142. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:patients need support with walking or are wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:patients need support with walking or are wheelchair-bound | rel=r_associated | relid=0 | w=41
  143. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:prevalence 1/10,000-1/15,000 female births
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence 1/10,000-1/15,000 female births | rel=r_associated | relid=0 | w=41
  144. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:prevalence of in 1 in 8,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of in 1 in 8,000 | rel=r_associated | relid=0 | w=41
  145. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:response to zinc supplementation
    n1=en:one patient reported (last curated november 2012) | n2=en:response to zinc supplementation | rel=r_associated | relid=0 | w=41
  146. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:see entry 104300 for general information on alzheimer disease
    n1=en:one patient reported (last curated november 2012) | n2=en:see entry 104300 for general information on alzheimer disease | rel=r_associated | relid=0 | w=41
  147. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:seven patients reported (as of march 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:seven patients reported (as of march 2011) | rel=r_associated | relid=0 | w=41
  148. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:some heterozygous cpt2 mutation carriers may be symptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:some heterozygous cpt2 mutation carriers may be symptomatic | rel=r_associated | relid=0 | w=41
  149. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:some patients respond to acetazolamide
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients respond to acetazolamide | rel=r_associated | relid=0 | w=41
  150. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss
    n1=en:one patient reported (last curated november 2012) | 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=41
  151. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support
    n1=en:one patient reported (last curated november 2012) | n2=en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support | rel=r_associated | relid=0 | w=41
  152. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:treatment with tnf inhibitors may be beneficial
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with tnf inhibitors may be beneficial | rel=r_associated | relid=0 | w=41
  153. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:two families described (last curated july 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families described (last curated july 2013) | rel=r_associated | relid=0 | w=41
  154. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:two families have been reported (september 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (september 2010) | rel=r_associated | relid=0 | w=41
  155. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:two unrelated families have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=41
  156. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:ush3 cases account for 40% of all usher patients in finland
    n1=en:one patient reported (last curated november 2012) | n2=en:ush3 cases account for 40% of all usher patients in finland | rel=r_associated | relid=0 | w=41
  157. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:variable age at onset (birth to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (birth to adult) | rel=r_associated | relid=0 | w=41
  158. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:variable age at onset (range birth to 60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range birth to 60 years) | rel=r_associated | relid=0 | w=41
  159. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:variable age at onset (usually 20 to 30 years of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (usually 20 to 30 years of age) | rel=r_associated | relid=0 | w=41
  160. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:variable age of onset (childhood to adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (childhood to adulthood) | rel=r_associated | relid=0 | w=41
  161. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:vhl type 2b - renal carcinoma and pheochromocytoma
    n1=en:one patient reported (last curated november 2012) | n2=en:vhl type 2b - renal carcinoma and pheochromocytoma | rel=r_associated | relid=0 | w=41
  162. en:one patient reported (last curated november 2012) -- r_associated #0: 41 / 0.953 -> en:young adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:young adult onset | rel=r_associated | relid=0 | w=41
  163. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:affected females may have increased spontaneous abortions
    n1=en:one patient reported (last curated november 2012) | n2=en:affected females may have increased spontaneous abortions | rel=r_associated | relid=0 | w=40
  164. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | rel=r_associated | relid=0 | w=40
  165. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:allelic to senior-loken syndrome 4 (606996)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to senior-loken syndrome 4 (606996) | rel=r_associated | relid=0 | w=40
  166. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:allelic with cone-rod dystrophy 10 (610283)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic with cone-rod dystrophy 10 (610283) | rel=r_associated | relid=0 | w=40
  167. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:both mutations occurred de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=40
  168. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682)
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | rel=r_associated | relid=0 | w=40
  169. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:children rarely develop the disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:children rarely develop the disorder | rel=r_associated | relid=0 | w=40
  170. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad
    n1=en:one patient reported (last curated november 2012) | n2=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | rel=r_associated | relid=0 | w=40
  171. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:cold temeratures exacerbate symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:cold temeratures exacerbate symptoms | rel=r_associated | relid=0 | w=40
  172. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases
    n1=en:one patient reported (last curated november 2012) | 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=40
  173. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)
    n1=en:one patient reported (last curated november 2012) | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=40
  174. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:dramatic improvement with proper treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:dramatic improvement with proper treatment | rel=r_associated | relid=0 | w=40
  175. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:earliest symptom onset in sixth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:earliest symptom onset in sixth decade of life | rel=r_associated | relid=0 | w=40
  176. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:five unrelated patients have been reported (as of december 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:five unrelated patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=40
  177. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:four clinical forms of krabbe disease
    n1=en:one patient reported (last curated november 2012) | n2=en:four clinical forms of krabbe disease | rel=r_associated | relid=0 | w=40
  178. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:fractures and dental caries and premature secondary tooth loss occur in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=40
  179. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity, see spg3a (182600)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see spg3a (182600) | rel=r_associated | relid=0 | w=40
  180. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:hernia occurs in 22% of adults
    n1=en:one patient reported (last curated november 2012) | n2=en:hernia occurs in 22% of adults | rel=r_associated | relid=0 | w=40
  181. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | rel=r_associated | relid=0 | w=40
  182. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:highly variable severity of muscle weakness
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable severity of muscle weakness | rel=r_associated | relid=0 | w=40
  183. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | rel=r_associated | relid=0 | w=40
  184. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:increased prevalence among the finnish
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence among the finnish | rel=r_associated | relid=0 | w=40
  185. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:increased susceptibility to multiple carcinomas
    n1=en:one patient reported (last curated november 2012) | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=40
  186. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:individuals may accumulate more pigment in hair and eyes with age
    n1=en:one patient reported (last curated november 2012) | n2=en:individuals may accumulate more pigment in hair and eyes with age | rel=r_associated | relid=0 | w=40
  187. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:intrafamilial variability in severity of hypothyroidism
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variability in severity of hypothyroidism | rel=r_associated | relid=0 | w=40
  188. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:lesions may become more prominent with sun exposure
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions may become more prominent with sun exposure | rel=r_associated | relid=0 | w=40
  189. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:many cases due to de novo mutation or chromosome aberration
    n1=en:one patient reported (last curated november 2012) | n2=en:many cases due to de novo mutation or chromosome aberration | rel=r_associated | relid=0 | w=40
  190. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | rel=r_associated | relid=0 | w=40
  191. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:normal alleles have 4 to 18 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:normal alleles have 4 to 18 repeats | rel=r_associated | relid=0 | w=40
  192. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:one canadian mennonite family has been reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one canadian mennonite family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  193. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:one family with 5 affected members has been reported (last curated september 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 5 affected members has been reported (last curated september 2012) | rel=r_associated | relid=0 | w=40
  194. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:onset between ages 10 and 25 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between ages 10 and 25 years | rel=r_associated | relid=0 | w=40
  195. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:onset in early adulthood (average 26 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early adulthood (average 26 years) | rel=r_associated | relid=0 | w=40
  196. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:onset in early childhood or adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood or adolescence | rel=r_associated | relid=0 | w=40
  197. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:onset in neonatal period or before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in neonatal period or before age 2 years | rel=r_associated | relid=0 | w=40
  198. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:partial laminin alpha-2 deficiency results in milder phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:partial laminin alpha-2 deficiency results in milder phenotype | rel=r_associated | relid=0 | w=40
  199. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:reduced penetrance (approximately 54%)
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced penetrance (approximately 54%) | rel=r_associated | relid=0 | w=40
  200. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:relatively benign course
    n1=en:one patient reported (last curated november 2012) | n2=en:relatively benign course | rel=r_associated | relid=0 | w=40
  201. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | rel=r_associated | relid=0 | w=40
  202. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:single mitochondrial dna deletions are found in sporadic kss patients
    n1=en:one patient reported (last curated november 2012) | n2=en:single mitochondrial dna deletions are found in sporadic kss patients | rel=r_associated | relid=0 | w=40
  203. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:some features are variably expressed
    n1=en:one patient reported (last curated november 2012) | n2=en:some features are variably expressed | rel=r_associated | relid=0 | w=40
  204. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:static, nonprogressive disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:static, nonprogressive disorder | rel=r_associated | relid=0 | w=40
  205. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:symptoms improve with age, resulting in woolly hair with almost normal hair density
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | rel=r_associated | relid=0 | w=40
  206. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:variable age of onset (6 to 35 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (6 to 35 years) | rel=r_associated | relid=0 | w=40
  207. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:variable expression and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expression and severity | rel=r_associated | relid=0 | w=40
  208. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:variant at may present with dystonia only
    n1=en:one patient reported (last curated november 2012) | n2=en:variant at may present with dystonia only | rel=r_associated | relid=0 | w=40
  209. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:wide phenotypic variation
    n1=en:one patient reported (last curated november 2012) | n2=en:wide phenotypic variation | rel=r_associated | relid=0 | w=40
  210. en:one patient reported (last curated november 2012) -- r_associated #0: 40 / 0.93 -> en:wide spectrum of severity
    n1=en:one patient reported (last curated november 2012) | n2=en:wide spectrum of severity | rel=r_associated | relid=0 | w=40
  211. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=39
  212. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:allelic disorder to spastic paraplegia-3 (spg3, 182600)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | rel=r_associated | relid=0 | w=39
  213. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:one patient reported (last curated november 2012) | 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=39
  214. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:allelic to marshall syndrome (154780)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to marshall syndrome (154780) | rel=r_associated | relid=0 | w=39
  215. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:arthralgia
    n1=en:one patient reported (last curated november 2012) | n2=en:arthralgia | rel=r_associated | relid=0 | w=39
  216. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:diabetes and anemia respond to high doses of thiamine supplementation
    n1=en:one patient reported (last curated november 2012) | n2=en:diabetes and anemia respond to high doses of thiamine supplementation | rel=r_associated | relid=0 | w=39
  217. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:early lethality
    n1=en:one patient reported (last curated november 2012) | n2=en:early lethality | rel=r_associated | relid=0 | w=39
  218. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:episodes typically last 2 to 5 minutes and occur daily or several times per month
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | rel=r_associated | relid=0 | w=39
  219. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:family a had a severe multisystem disorder resulting in death before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=39
  220. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:favorable response to immunotherapy
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to immunotherapy | rel=r_associated | relid=0 | w=39
  221. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:five unrelated patients have been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:five unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=39
  222. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:hypersensitivity to ionizing radiation
    n1=en:one patient reported (last curated november 2012) | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=39
  223. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> 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
  224. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:incidence of 1 in 5,000-8,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=39
  225. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:inflammatory arthritis may develop in 30% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=39
  226. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:later onset may occur (1 to 11 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset may occur (1 to 11 years) | rel=r_associated | relid=0 | w=39
  227. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:mean age at onset 24 years (range 14 to 33 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=39
  228. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:mean age of onset 56 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 56 years | rel=r_associated | relid=0 | w=39
  229. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:most patients have no bleeding abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients have no bleeding abnormalities | rel=r_associated | relid=0 | w=39
  230. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14
    n1=en:one patient reported (last curated november 2012) | 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=39
  231. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:mutations are frequently maternally inherited
    n1=en:one patient reported (last curated november 2012) | n2=en:mutations are frequently maternally inherited | rel=r_associated | relid=0 | w=39
  232. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:occurs during pregnancy, most often in the third trimester
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs during pregnancy, most often in the third trimester | rel=r_associated | relid=0 | w=39
  233. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:one consanguineous algerian family has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous algerian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=39
  234. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:one consanguineous arab family has been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous arab family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=39
  235. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:one consanguineous family has been reported (last curated december 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family has been reported (last curated december 2010) | rel=r_associated | relid=0 | w=39
  236. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=39
  237. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:onset of achalasia in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of achalasia in infancy or early childhood | rel=r_associated | relid=0 | w=39
  238. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:onset of cataracts in late adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of cataracts in late adolescence | rel=r_associated | relid=0 | w=39
  239. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:onset of fractures 4-18 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of fractures 4-18 months of life | rel=r_associated | relid=0 | w=39
  240. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:onset within first 6 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset within first 6 months of life | rel=r_associated | relid=0 | w=39
  241. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:patients develop aortic dissection with little or no aortic enlargement
    n1=en:one patient reported (last curated november 2012) | n2=en:patients develop aortic dissection with little or no aortic enlargement | rel=r_associated | relid=0 | w=39
  242. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:possible gonadal mosaicism in one report
    n1=en:one patient reported (last curated november 2012) | n2=en:possible gonadal mosaicism in one report | rel=r_associated | relid=0 | w=39
  243. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:presentation between 6-18 months
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation between 6-18 months | rel=r_associated | relid=0 | w=39
  244. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:prevalence of 1 in 3,900 in south africa
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 3,900 in south africa | rel=r_associated | relid=0 | w=39
  245. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:prevalence of 1 in 50,000-70,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 50,000-70,000 live births | rel=r_associated | relid=0 | w=39
  246. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:reference lab test identifier:id:xxx:reference lab test:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:reference lab test identifier:id:xxx:reference lab test:nom | rel=r_associated | relid=0 | w=39
  247. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:repeat tracts may expand as patient ages (somatic instability)
    n1=en:one patient reported (last curated november 2012) | n2=en:repeat tracts may expand as patient ages (somatic instability) | rel=r_associated | relid=0 | w=39
  248. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:see also pseudopseudohypoparathyroidism (612463)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pseudopseudohypoparathyroidism (612463) | rel=r_associated | relid=0 | w=39
  249. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:see also x-linked edmd (310300)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also x-linked edmd (310300) | rel=r_associated | relid=0 | w=39
  250. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:short umbilical cord
    n1=en:one patient reported (last curated november 2012) | n2=en:short umbilical cord | rel=r_associated | relid=0 | w=39
  251. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:sib b did not receive mmr vaccination and was asymptomatic in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | rel=r_associated | relid=0 | w=39
  252. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:some laboratory abnormalities may fluctuate or improve with time
    n1=en:one patient reported (last curated november 2012) | n2=en:some laboratory abnormalities may fluctuate or improve with time | rel=r_associated | relid=0 | w=39
  253. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:some patients exhibit features of more than 1 type of cardiomyopathy
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients exhibit features of more than 1 type of cardiomyopathy | rel=r_associated | relid=0 | w=39
  254. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | rel=r_associated | relid=0 | w=39
  255. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:some patients may develop concurrent failure to thrive and dyslipidemia
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may develop concurrent failure to thrive and dyslipidemia | rel=r_associated | relid=0 | w=39
  256. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)
    n1=en:one patient reported (last curated november 2012) | n2=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | rel=r_associated | relid=0 | w=39
  257. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:variable age at diagnosis
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at diagnosis | rel=r_associated | relid=0 | w=39
  258. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:variable age at onset (range 10 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 10 to 50 years) | rel=r_associated | relid=0 | w=39
  259. en:one patient reported (last curated november 2012) -- r_associated #0: 39 / 0.907 -> en:walking delay
    n1=en:one patient reported (last curated november 2012) | n2=en:walking delay | rel=r_associated | relid=0 | w=39
  260. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:21% of hereditary wilms tumor are bilateral
    n1=en:one patient reported (last curated november 2012) | n2=en:21% of hereditary wilms tumor are bilateral | rel=r_associated | relid=0 | w=38
  261. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:adult onset (wide range of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=38
  262. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | rel=r_associated | relid=0 | w=38
  263. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | rel=r_associated | relid=0 | w=38
  264. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:clonidine can alleviate hyperhidrosis
    n1=en:one patient reported (last curated november 2012) | n2=en:clonidine can alleviate hyperhidrosis | rel=r_associated | relid=0 | w=38
  265. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:diurnal fluctuation
    n1=en:one patient reported (last curated november 2012) | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=38
  266. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:estimated frequency 1/2000-1/4000 individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=38
  267. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:favorable response to spironolactone
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to spironolactone | rel=r_associated | relid=0 | w=38
  268. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:female carriers may have asymptomatic proteinuria or hypercalciuria
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have asymptomatic proteinuria or hypercalciuria | rel=r_associated | relid=0 | w=38
  269. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:forty percent of patients die in the first year
    n1=en:one patient reported (last curated november 2012) | n2=en:forty percent of patients die in the first year | rel=r_associated | relid=0 | w=38
  270. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:hepatomegaly improves with age and disappears around puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=38
  271. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level
    n1=en:one patient reported (last curated november 2012) | n2=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | rel=r_associated | relid=0 | w=38
  272. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:high frequency in japan (2 in 20,000, 0.1%)
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in japan (2 in 20,000, 0.1%) | rel=r_associated | relid=0 | w=38
  273. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:highly variable clinical and immunologic phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable clinical and immunologic phenotype | rel=r_associated | relid=0 | w=38
  274. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:hyperthermia in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=38
  275. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness
    n1=en:one patient reported (last curated november 2012) | n2=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | rel=r_associated | relid=0 | w=38
  276. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:increased sensitivity to valproic acid toxicity
    n1=en:one patient reported (last curated november 2012) | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=38
  277. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:later onset in females
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset in females | rel=r_associated | relid=0 | w=38
  278. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:majority of cases are due to de novo mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases are due to de novo mutation | rel=r_associated | relid=0 | w=38
  279. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:neurologic signs last hours to days
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic signs last hours to days | rel=r_associated | relid=0 | w=38
  280. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> 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:one patient reported (last curated november 2012) | 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=38
  281. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:often unilateral involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:often unilateral involvement | rel=r_associated | relid=0 | w=38
  282. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:one 3-generation korean family and one father daughter have been reported (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=38
  283. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:one family has been reported (last curated january 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=38
  284. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:one patient with episodic ataxia and later onset has been reported (as of june 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | rel=r_associated | relid=0 | w=38
  285. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:onset 6 to 18 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 6 to 18 months | rel=r_associated | relid=0 | w=38
  286. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:onset between birth and 3 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between birth and 3 months of age | rel=r_associated | relid=0 | w=38
  287. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:onset first to seventh decade with 30 to 40 year mode
    n1=en:one patient reported (last curated november 2012) | n2=en:onset first to seventh decade with 30 to 40 year mode | rel=r_associated | relid=0 | w=38
  288. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:onset in teenage or young adult years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in teenage or young adult years | rel=r_associated | relid=0 | w=38
  289. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:onset of muscle weakness in late adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of muscle weakness in late adulthood | rel=r_associated | relid=0 | w=38
  290. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:onset usually in first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in first year of life | rel=r_associated | relid=0 | w=38
  291. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:onset usually in second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in second decade | rel=r_associated | relid=0 | w=38
  292. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=38
  293. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:possible favorable response to ketogenic diet
    n1=en:one patient reported (last curated november 2012) | n2=en:possible favorable response to ketogenic diet | rel=r_associated | relid=0 | w=38
  294. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:precipitating factors include viral illness and pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitating factors include viral illness and pregnancy | rel=r_associated | relid=0 | w=38
  295. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:progressive renal disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive renal disorder | rel=r_associated | relid=0 | w=38
  296. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:see also infantile (600649) and late-onset (255110) cpt ii deficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | rel=r_associated | relid=0 | w=38
  297. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:some patients have no clinical symptoms and are detected by routine newborn screening
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have no clinical symptoms and are detected by routine newborn screening | rel=r_associated | relid=0 | w=38
  298. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:symptoms appear in early childhood and are progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms appear in early childhood and are progressive | rel=r_associated | relid=0 | w=38
  299. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:two unrelated chinese families have been reported (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated chinese families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=38
  300. en:one patient reported (last curated november 2012) -- r_associated #0: 38 / 0.884 -> en:variable age of onset, from early childhood to seventh decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset, from early childhood to seventh decade of life | rel=r_associated | relid=0 | w=38
  301. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma
    n1=en:one patient reported (last curated november 2012) | n2=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | rel=r_associated | relid=0 | w=37
  302. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:absence of premature birth, low birthweight, and exposure to oxygen
    n1=en:one patient reported (last curated november 2012) | n2=en:absence of premature birth, low birthweight, and exposure to oxygen | rel=r_associated | relid=0 | w=37
  303. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:accounts for 5-15% of childhood epilepsies
    n1=en:one patient reported (last curated november 2012) | n2=en:accounts for 5-15% of childhood epilepsies | rel=r_associated | relid=0 | w=37
  304. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:adults may lose ability to walk
    n1=en:one patient reported (last curated november 2012) | n2=en:adults may lose ability to walk | rel=r_associated | relid=0 | w=37
  305. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:affected males are infertile, whereas affected females have recurrent pregnancy loss
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | rel=r_associated | relid=0 | w=37
  306. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:age at onset ranges from neonatal to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset ranges from neonatal to adulthood | rel=r_associated | relid=0 | w=37
  307. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:approximately one-third of patients become seizure-free with age
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately one-third of patients become seizure-free with age | rel=r_associated | relid=0 | w=37
  308. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:based on report of 2 sibs in 2008
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=37
  309. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations
    n1=en:one patient reported (last curated november 2012) | n2=en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations | rel=r_associated | relid=0 | w=37
  310. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:carrier frequency 1:200,000 in france
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier frequency 1:200,000 in france | rel=r_associated | relid=0 | w=37
  311. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:death in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy or early childhood | rel=r_associated | relid=0 | w=37
  312. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:distinct disorder from parkinson disease (168600)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from parkinson disease (168600) | rel=r_associated | relid=0 | w=37
  313. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:distinct disorder from reduced zinc in breast milk (608118)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from reduced zinc in breast milk (608118) | rel=r_associated | relid=0 | w=37
  314. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:dysmorphic facial features are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic facial features are variable | rel=r_associated | relid=0 | w=37
  315. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:eight unrelated patients have been reported (as of september 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:eight unrelated patients have been reported (as of september 2011) | rel=r_associated | relid=0 | w=37
  316. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:febrile seizures show onset between 6 months and 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:febrile seizures show onset between 6 months and 3 years | rel=r_associated | relid=0 | w=37
  317. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:four unrelated patients have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=37
  318. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see 166600)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 166600) | rel=r_associated | relid=0 | w=37
  319. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | rel=r_associated | relid=0 | w=37
  320. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:global developmental delay
    n1=en:one patient reported (last curated november 2012) | n2=en:global developmental delay | rel=r_associated | relid=0 | w=37
  321. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:high occurrence of de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:high occurrence of de novo mutations | rel=r_associated | relid=0 | w=37
  322. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:increased susceptibility to infections
    n1=en:one patient reported (last curated november 2012) | n2=en:increased susceptibility to infections | rel=r_associated | relid=0 | w=37
  323. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:infections may precipitate ketotic episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=37
  324. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:left side involvement more frequent than right side involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=37
  325. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:lower limb involvement occurs before upper limb involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=37
  326. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:marked favorable response to l-dopa treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:marked favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=37
  327. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:mean age of onset 31 years (range 5-60)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=37
  328. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:one patient reported (last curated november 2012) | 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=37
  329. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | rel=r_associated | relid=0 | w=37
  330. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:mildly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:mildly progressive | rel=r_associated | relid=0 | w=37
  331. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:more frequent in individuals of asian descent
    n1=en:one patient reported (last curated november 2012) | n2=en:more frequent in individuals of asian descent | rel=r_associated | relid=0 | w=37
  332. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:motor fluctuations
    n1=en:one patient reported (last curated november 2012) | n2=en:motor fluctuations | rel=r_associated | relid=0 | w=37
  333. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | rel=r_associated | relid=0 | w=37
  334. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:neonatal onset
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal onset | rel=r_associated | relid=0 | w=37
  335. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:neurologic symptoms are not always present or may appear late
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic symptoms are not always present or may appear late | rel=r_associated | relid=0 | w=37
  336. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:normal birth (finding)
    n1=en:one patient reported (last curated november 2012) | n2=en:normal birth (finding) | rel=r_associated | relid=0 | w=37
  337. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:one 4-generation chinese family has been reported (as of 04/2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 4-generation chinese family has been reported (as of 04/2010) | rel=r_associated | relid=0 | w=37
  338. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:one consanguineous family of indian descent has been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family of indian descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=37
  339. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:one family from punjab, india has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family from punjab, india has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=37
  340. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:one family has been reported (as of june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of june 2011) | rel=r_associated | relid=0 | w=37
  341. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=37
  342. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:one patient has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported | rel=r_associated | relid=0 | w=37
  343. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:only 13% develop hypertension at 18 years of age or less
    n1=en:one patient reported (last curated november 2012) | n2=en:only 13% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=37
  344. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:onset by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset by age 2 years | rel=r_associated | relid=0 | w=37
  345. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:onset in childhood (usually before age 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (usually before age 5 years) | rel=r_associated | relid=0 | w=37
  346. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:onset of symptoms 2-4 weeks of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms 2-4 weeks of age | rel=r_associated | relid=0 | w=37
  347. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:onset usually in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood | rel=r_associated | relid=0 | w=37
  348. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:poor response to acetylcholinesterase inhibitors or cholinergic agents
    n1=en:one patient reported (last curated november 2012) | n2=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | rel=r_associated | relid=0 | w=37
  349. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:presenting symptoms in the upper body
    n1=en:one patient reported (last curated november 2012) | n2=en:presenting symptoms in the upper body | rel=r_associated | relid=0 | w=37
  350. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:prevalent in arabic, turkish, armenian, and sephardic jewish populations
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | rel=r_associated | relid=0 | w=37
  351. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:radioresistant dna synthesis
    n1=en:one patient reported (last curated november 2012) | n2=en:radioresistant dna synthesis | rel=r_associated | relid=0 | w=37
  352. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:relatively slow progression
    n1=en:one patient reported (last curated november 2012) | n2=en:relatively slow progression | rel=r_associated | relid=0 | w=37
  353. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:secondary hemorrhage
    n1=en:one patient reported (last curated november 2012) | n2=en:secondary hemorrhage | rel=r_associated | relid=0 | w=37
  354. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=37
  355. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:seizure frequency decreases during early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:seizure frequency decreases during early childhood | rel=r_associated | relid=0 | w=37
  356. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:seizures are easily controlled by medications
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are easily controlled by medications | rel=r_associated | relid=0 | w=37
  357. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=37
  358. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae
    n1=en:one patient reported (last curated november 2012) | n2=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | rel=r_associated | relid=0 | w=37
  359. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes
    n1=en:one patient reported (last curated november 2012) | 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=37
  360. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | rel=r_associated | relid=0 | w=37
  361. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:symptoms relieved by progesterone antagonist (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms relieved by progesterone antagonist (in some patients) | rel=r_associated | relid=0 | w=37
  362. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:three unrelated families have been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=37
  363. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:two japanese brothers have been reported (as of september 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two japanese brothers have been reported (as of september 2011) | rel=r_associated | relid=0 | w=37
  364. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:two unrelated patients have been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=37
  365. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)
    n1=en:one patient reported (last curated november 2012) | n2=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | rel=r_associated | relid=0 | w=37
  366. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:variable duration (minutes to hours)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable duration (minutes to hours) | rel=r_associated | relid=0 | w=37
  367. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:variable severity (mild symptoms to severe handicap)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity (mild symptoms to severe handicap) | rel=r_associated | relid=0 | w=37
  368. en:one patient reported (last curated november 2012) -- r_associated #0: 37 / 0.86 -> en:worldwide incidence of 1 in 185,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:worldwide incidence of 1 in 185,000 live births | rel=r_associated | relid=0 | w=37
  369. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:acute attacks rarely occur before puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:acute attacks rarely occur before puberty | rel=r_associated | relid=0 | w=36
  370. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:adult onset (mean age 37 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (mean age 37 years) | rel=r_associated | relid=0 | w=36
  371. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:adult-onset in third to fourth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:adult-onset in third to fourth decade | rel=r_associated | relid=0 | w=36
  372. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:affected fetuses frequently undergo spontaneous abortion
    n1=en:one patient reported (last curated november 2012) | n2=en:affected fetuses frequently undergo spontaneous abortion | rel=r_associated | relid=0 | w=36
  373. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:age at onset in males ranges from 3 to 7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset in males ranges from 3 to 7 years | rel=r_associated | relid=0 | w=36
  374. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:age of onset - birth to 15 months
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset - birth to 15 months | rel=r_associated | relid=0 | w=36
  375. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:allelic disorder to glut1 deficiency syndrome 1 (606777)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | rel=r_associated | relid=0 | w=36
  376. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:allelic disorder to ifap syndrome (308205)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to ifap syndrome (308205) | rel=r_associated | relid=0 | w=36
  377. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:allelic with smith-mccort dysplasia (607326)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic with smith-mccort dysplasia (607326) | rel=r_associated | relid=0 | w=36
  378. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:apparent in newborn at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:apparent in newborn at birth | rel=r_associated | relid=0 | w=36
  379. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands
    n1=en:one patient reported (last curated november 2012) | 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=36
  380. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:based on report of 1 japanese family (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 japanese family (last curated november 2013) | rel=r_associated | relid=0 | w=36
  381. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:blistering frequency may decrease with age
    n1=en:one patient reported (last curated november 2012) | n2=en:blistering frequency may decrease with age | rel=r_associated | relid=0 | w=36
  382. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:blisters are precipitated by minor skin trauma
    n1=en:one patient reported (last curated november 2012) | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=36
  383. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:brain anomalies variable
    n1=en:one patient reported (last curated november 2012) | n2=en:brain anomalies variable | rel=r_associated | relid=0 | w=36
  384. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:chronic disease
    n1=en:one patient reported (last curated november 2012) | n2=en:chronic disease | rel=r_associated | relid=0 | w=36
  385. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:considered a benign disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:considered a benign disorder | rel=r_associated | relid=0 | w=36
  386. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000)
    n1=en:one patient reported (last curated november 2012) | n2=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | rel=r_associated | relid=0 | w=36
  387. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies
    n1=en:one patient reported (last curated november 2012) | 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=36
  388. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:de novo mutation in heterozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutation in heterozygotes | rel=r_associated | relid=0 | w=36
  389. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:death in infancy (1 patient)
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy (1 patient) | rel=r_associated | relid=0 | w=36
  390. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:death in infancy in majority of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy in majority of patients | rel=r_associated | relid=0 | w=36
  391. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:death may occur in childhood due to respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death may occur in childhood due to respiratory failure | rel=r_associated | relid=0 | w=36
  392. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:dopa-unresponsive
    n1=en:one patient reported (last curated november 2012) | n2=en:dopa-unresponsive | rel=r_associated | relid=0 | w=36
  393. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) | rel=r_associated | relid=0 | w=36
  394. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see feb1 121210)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see feb1 121210) | rel=r_associated | relid=0 | w=36
  395. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:group c is relatively benign
    n1=en:one patient reported (last curated november 2012) | n2=en:group c is relatively benign | rel=r_associated | relid=0 | w=36
  396. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:high incidence in sweden and finland
    n1=en:one patient reported (last curated november 2012) | n2=en:high incidence in sweden and finland | rel=r_associated | relid=0 | w=36
  397. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:high mortality in infancy and early childhood (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:high mortality in infancy and early childhood (in some patients) | rel=r_associated | relid=0 | w=36
  398. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)
    n1=en:one patient reported (last curated november 2012) | 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=36
  399. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:late-adult onset (range 50 to 80 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:late-adult onset (range 50 to 80 years) | rel=r_associated | relid=0 | w=36
  400. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:many cases are sporadic, but somatic and germline mosaicism has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:many cases are sporadic, but somatic and germline mosaicism has been reported | rel=r_associated | relid=0 | w=36
  401. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:may be benign condition
    n1=en:one patient reported (last curated november 2012) | n2=en:may be benign condition | rel=r_associated | relid=0 | w=36
  402. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:mean age of onset 14-24 months
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 14-24 months | rel=r_associated | relid=0 | w=36
  403. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=36
  404. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:most have onset in first or second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:most have onset in first or second decade | rel=r_associated | relid=0 | w=36
  405. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:non-progressive and more severe progressive forms
    n1=en:one patient reported (last curated november 2012) | n2=en:non-progressive and more severe progressive forms | rel=r_associated | relid=0 | w=36
  406. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:noted in early childhood in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:noted in early childhood in most patients | rel=r_associated | relid=0 | w=36
  407. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:obligatory heterozygotes are clinically unaffected
    n1=en:one patient reported (last curated november 2012) | n2=en:obligatory heterozygotes are clinically unaffected | rel=r_associated | relid=0 | w=36
  408. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:one family reported (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (last curated january 2014) | rel=r_associated | relid=0 | w=36
  409. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:one patient with normal psychomotor development has been reported (last curated december 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with normal psychomotor development has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=36
  410. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:onset and diagnosis may occur later (after age 20 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset and diagnosis may occur later (after age 20 years) | rel=r_associated | relid=0 | w=36
  411. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:onset between 7 and 18 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 7 and 18 years | rel=r_associated | relid=0 | w=36
  412. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:onset of gait abnormalities at 8 to 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of gait abnormalities at 8 to 40 years | rel=r_associated | relid=0 | w=36
  413. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:onset of linear striations between 5 months and 6 years (only in affected females)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of linear striations between 5 months and 6 years (only in affected females) | rel=r_associated | relid=0 | w=36
  414. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:onset of night blindness varies among patients from early childhood to mid thirties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=36
  415. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:phenotype may be influenced by maternal alcohol consumption during pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | rel=r_associated | relid=0 | w=36
  416. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:poor response to l-dopa
    n1=en:one patient reported (last curated november 2012) | n2=en:poor response to l-dopa | rel=r_associated | relid=0 | w=36
  417. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:predominantly occurs in young males with high rate of atopic disease
    n1=en:one patient reported (last curated november 2012) | n2=en:predominantly occurs in young males with high rate of atopic disease | rel=r_associated | relid=0 | w=36
  418. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:presents at a later age than sporadic wilms tumor
    n1=en:one patient reported (last curated november 2012) | n2=en:presents at a later age than sporadic wilms tumor | rel=r_associated | relid=0 | w=36
  419. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:reference lab test method:type:time reported elsewhere:reference lab test:narrative
    n1=en:one patient reported (last curated november 2012) | n2=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=36
  420. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:some patients do not have thin corpus callosum
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not have thin corpus callosum | rel=r_associated | relid=0 | w=36
  421. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:some patients have later onset of the disorder as young adults
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have later onset of the disorder as young adults | rel=r_associated | relid=0 | w=36
  422. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:some patients survive infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients survive infancy | rel=r_associated | relid=0 | w=36
  423. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:symptoms resolve over weeks to months with usually no residual symptoms between attacks
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | rel=r_associated | relid=0 | w=36
  424. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:symptoms usually appear in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms usually appear in adulthood | rel=r_associated | relid=0 | w=36
  425. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:symptoms vary from asymptomatic patients to patients with metabolic acidosis
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | rel=r_associated | relid=0 | w=36
  426. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:three unrelated families have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=36
  427. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:three unrelated families have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=36
  428. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:two jordanian sibs have been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two jordanian sibs have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=36
  429. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:two related patients have been reported (as of november 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two related patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=36
  430. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:two unrelated families have been reported (last curated may 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated may 2014) | rel=r_associated | relid=0 | w=36
  431. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:two unrelated girls reported (last curated october 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated girls reported (last curated october 2013) | rel=r_associated | relid=0 | w=36
  432. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:two unrelated patients have been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=36
  433. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:typically sporadic occurrence
    n1=en:one patient reported (last curated november 2012) | n2=en:typically sporadic occurrence | rel=r_associated | relid=0 | w=36
  434. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:variable phenotype within families
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype within families | rel=r_associated | relid=0 | w=36
  435. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:variable severity and progression
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity and progression | rel=r_associated | relid=0 | w=36
  436. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:variably expressivity
    n1=en:one patient reported (last curated november 2012) | n2=en:variably expressivity | rel=r_associated | relid=0 | w=36
  437. en:one patient reported (last curated november 2012) -- r_associated #0: 36 / 0.837 -> en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia
    n1=en:one patient reported (last curated november 2012) | n2=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | rel=r_associated | relid=0 | w=36
  438. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74)
    n1=en:one patient reported (last curated november 2012) | n2=en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) | rel=r_associated | relid=0 | w=35
  439. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:(2) juvenile or adolescent nephropathic (219900)
    n1=en:one patient reported (last curated november 2012) | n2=en:(2) juvenile or adolescent nephropathic (219900) | rel=r_associated | relid=0 | w=35
  440. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:1 patient reported (last curated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:1 patient reported (last curated may 2012) | rel=r_associated | relid=0 | w=35
  441. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:2-3% due to imprinting defects
    n1=en:one patient reported (last curated november 2012) | n2=en:2-3% due to imprinting defects | rel=r_associated | relid=0 | w=35
  442. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:2:1 female preponderance
    n1=en:one patient reported (last curated november 2012) | n2=en:2:1 female preponderance | rel=r_associated | relid=0 | w=35
  443. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:35% of patients have facial dysmorphism
    n1=en:one patient reported (last curated november 2012) | n2=en:35% of patients have facial dysmorphism | rel=r_associated | relid=0 | w=35
  444. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:80% cases new mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:80% cases new mutations | rel=r_associated | relid=0 | w=35
  445. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:a milder form has also been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=35
  446. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:a wnt3 mutation has been identified in 1 affected family
    n1=en:one patient reported (last curated november 2012) | n2=en:a wnt3 mutation has been identified in 1 affected family | rel=r_associated | relid=0 | w=35
  447. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:about 5% of patients have a history of febrile seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:about 5% of patients have a history of febrile seizures | rel=r_associated | relid=0 | w=35
  448. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:acetazolamide may benefit attacks of vertigo
    n1=en:one patient reported (last curated november 2012) | n2=en:acetazolamide may benefit attacks of vertigo | rel=r_associated | relid=0 | w=35
  449. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease
    n1=en:one patient reported (last curated november 2012) | n2=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | rel=r_associated | relid=0 | w=35
  450. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:adult onset - 100-1,000 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset - 100-1,000 repeats | rel=r_associated | relid=0 | w=35
  451. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:adult onset (20 to 40 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (20 to 40 years) | rel=r_associated | relid=0 | w=35
  452. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:adult onset (mean 30 years, range 10-65 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (mean 30 years, range 10-65 years) | rel=r_associated | relid=0 | w=35
  453. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:adult onset (range 45 to 70 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 45 to 70 years) | rel=r_associated | relid=0 | w=35
  454. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles
    n1=en:one patient reported (last curated november 2012) | n2=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | rel=r_associated | relid=0 | w=35
  455. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected females have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:affected females have been reported | rel=r_associated | relid=0 | w=35
  456. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
    n1=en:one patient reported (last curated november 2012) | n2=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | rel=r_associated | relid=0 | w=35
  457. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | rel=r_associated | relid=0 | w=35
  458. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected individuals have amnesia for events
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals have amnesia for events | rel=r_associated | relid=0 | w=35
  459. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene | rel=r_associated | relid=0 | w=35
  460. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected individuals may have more than 1 cardiac structural defect, or none at all
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=35
  461. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affected infants appear normal at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:affected infants appear normal at birth | rel=r_associated | relid=0 | w=35
  462. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:affects 1 in 250,000 to 1 million people worldwide
    n1=en:one patient reported (last curated november 2012) | n2=en:affects 1 in 250,000 to 1 million people worldwide | rel=r_associated | relid=0 | w=35
  463. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:age at diagnosis 2-4 months
    n1=en:one patient reported (last curated november 2012) | n2=en:age at diagnosis 2-4 months | rel=r_associated | relid=0 | w=35
  464. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:age at onset 15 to 33 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset 15 to 33 years | rel=r_associated | relid=0 | w=35
  465. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:age of onset of upper limb involvement 10-43 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset of upper limb involvement 10-43 years | rel=r_associated | relid=0 | w=35
  466. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:age of onset ranges from 1 to 47 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=35
  467. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:age-dependent penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:age-dependent penetrance | rel=r_associated | relid=0 | w=35
  468. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:age:time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:age:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=35
  469. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:all affected individuals have been stillborn or died in the neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:all affected individuals have been stillborn or died in the neonatal period | rel=r_associated | relid=0 | w=35
  470. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:all reported cases have de novo mutations (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:all reported cases have de novo mutations (last curated october 2014) | rel=r_associated | relid=0 | w=35
  471. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:all reported cases have occurred sporadically
    n1=en:one patient reported (last curated november 2012) | n2=en:all reported cases have occurred sporadically | rel=r_associated | relid=0 | w=35
  472. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | rel=r_associated | relid=0 | w=35
  473. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to cln8 (600143)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to cln8 (600143) | rel=r_associated | relid=0 | w=35
  474. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | rel=r_associated | relid=0 | w=35
  475. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | rel=r_associated | relid=0 | w=35
  476. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | rel=r_associated | relid=0 | w=35
  477. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | rel=r_associated | relid=0 | w=35
  478. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=35
  479. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | rel=r_associated | relid=0 | w=35
  480. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to parkinson disease-1 (park1, 168601)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to parkinson disease-1 (park1, 168601) | rel=r_associated | relid=0 | w=35
  481. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | rel=r_associated | relid=0 | w=35
  482. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900)
    n1=en:one patient reported (last curated november 2012) | 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=35
  483. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400)
    n1=en:one patient reported (last curated november 2012) | 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=35
  484. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to autosomal recessive pxe (264800)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to autosomal recessive pxe (264800) | rel=r_associated | relid=0 | w=35
  485. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to craniometaphyseal dysplasia (123000)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to craniometaphyseal dysplasia (123000) | rel=r_associated | relid=0 | w=35
  486. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to ellis-van creveld syndrome (225500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to ellis-van creveld syndrome (225500) | rel=r_associated | relid=0 | w=35
  487. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to hawkinsinuria (140350)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to hawkinsinuria (140350) | rel=r_associated | relid=0 | w=35
  488. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | rel=r_associated | relid=0 | w=35
  489. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=35
  490. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)
    n1=en:one patient reported (last curated november 2012) | 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=35
  491. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to mevalonic aciduria (610377)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to mevalonic aciduria (610377) | rel=r_associated | relid=0 | w=35
  492. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
    n1=en:one patient reported (last curated november 2012) | 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=35
  493. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to pachyonychia congenita jackson-lawler type (167210)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to pachyonychia congenita jackson-lawler type (167210) | rel=r_associated | relid=0 | w=35
  494. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)
    n1=en:one patient reported (last curated november 2012) | 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=35
  495. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | rel=r_associated | relid=0 | w=35
  496. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | rel=r_associated | relid=0 | w=35
  497. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820)
    n1=en:one patient reported (last curated november 2012) | 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=35
  498. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:anemia is not responsive to pyridoxine supplementation
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia is not responsive to pyridoxine supplementation | rel=r_associated | relid=0 | w=35
  499. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=35
  500. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:approximately 25% have a severe course and die of respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 25% have a severe course and die of respiratory failure | rel=r_associated | relid=0 | w=35
  501. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:approximately 40% of cases are inherited or new germline mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=35
  502. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:approximately half of patients need ambulatory support after the fifth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately half of patients need ambulatory support after the fifth decade | rel=r_associated | relid=0 | w=35
  503. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  504. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:associated with untreated phenylketonuria (261600)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with untreated phenylketonuria (261600) | rel=r_associated | relid=0 | w=35
  505. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:asymptomatic patients may show changes on sd-oct
    n1=en:one patient reported (last curated november 2012) | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=35
  506. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:attacks more common in women
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=35
  507. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | rel=r_associated | relid=0 | w=35
  508. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:autosomal recessive inheritance has been described in 2 families
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has been described in 2 families | rel=r_associated | relid=0 | w=35
  509. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:autosomal recessive inheritance in one family (see 603342.0010)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance in one family (see 603342.0010) | rel=r_associated | relid=0 | w=35
  510. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:average age at onset 18.6 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset 18.6 years | rel=r_associated | relid=0 | w=35
  511. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:average disease duration of 7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=35
  512. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on 1 family (last curated september 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=35
  513. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  514. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on 2 men from 2 unrelated consanguineous iranian families
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 men from 2 unrelated consanguineous iranian families | rel=r_associated | relid=0 | w=35
  515. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | rel=r_associated | relid=0 | w=35
  516. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on 4 patients in one family
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 4 patients in one family | rel=r_associated | relid=0 | w=35
  517. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on one 4-generation italian family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one 4-generation italian family (last curated august 2015) | rel=r_associated | relid=0 | w=35
  518. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on one patient (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one patient (last curated february 2015) | rel=r_associated | relid=0 | w=35
  519. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on one report of brother and sister
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one report of brother and sister | rel=r_associated | relid=0 | w=35
  520. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on report of 1 family (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 family (last curated october 2014) | rel=r_associated | relid=0 | w=35
  521. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 probands (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 probands (last curated october 2014) | rel=r_associated | relid=0 | w=35
  522. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 sisters (last curated october 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 sisters (last curated october 2012) | rel=r_associated | relid=0 | w=35
  523. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on report of 3 unrelated patients (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 3 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=35
  524. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on the report of 1 consanguineous arab family (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on the report of 1 consanguineous arab family (last curated january 2014) | rel=r_associated | relid=0 | w=35
  525. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:based on the report of one consanguineous pakistani family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on the report of one consanguineous pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=35
  526. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:benign, asymptomatic defect
    n1=en:one patient reported (last curated november 2012) | n2=en:benign, asymptomatic defect | rel=r_associated | relid=0 | w=35
  527. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:bimodal age of onset
    n1=en:one patient reported (last curated november 2012) | n2=en:bimodal age of onset | rel=r_associated | relid=0 | w=35
  528. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:birth date:time stamp -- date and time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=35
  529. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:blood glucose monitor with integrated voice synthesizer
    n1=en:one patient reported (last curated november 2012) | n2=en:blood glucose monitor with integrated voice synthesizer | rel=r_associated | relid=0 | w=35
  530. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:body habitus becomes apparent in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:body habitus becomes apparent in childhood | rel=r_associated | relid=0 | w=35
  531. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:both autosomal dominant and recessive inheritance can occur
    n1=en:one patient reported (last curated november 2012) | n2=en:both autosomal dominant and recessive inheritance can occur | rel=r_associated | relid=0 | w=35
  532. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  533. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri
    n1=en:one patient reported (last curated november 2012) | n2=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | rel=r_associated | relid=0 | w=35
  534. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:broad range in severity of presentation in sibships
    n1=en:one patient reported (last curated november 2012) | n2=en:broad range in severity of presentation in sibships | rel=r_associated | relid=0 | w=35
  535. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | rel=r_associated | relid=0 | w=35
  536. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:can be asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:can be asymptomatic | rel=r_associated | relid=0 | w=35
  537. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:can be categorized into 3 groups
    n1=en:one patient reported (last curated november 2012) | n2=en:can be categorized into 3 groups | rel=r_associated | relid=0 | w=35
  538. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:cardiac manifestations are often fatal
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiac manifestations are often fatal | rel=r_associated | relid=0 | w=35
  539. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:carrier females have arthralgias in middle age
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females have arthralgias in middle age | rel=r_associated | relid=0 | w=35
  540. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:cause of death usually due to respiratory failure before adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:cause of death usually due to respiratory failure before adulthood | rel=r_associated | relid=0 | w=35
  541. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation'
    n1=en:one patient reported (last curated november 2012) | 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=35
  542. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:caused by heterozygous germline mutation and second-hit somatic mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by heterozygous germline mutation and second-hit somatic mutation | rel=r_associated | relid=0 | w=35
  543. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:cheerful disposition
    n1=en:one patient reported (last curated november 2012) | n2=en:cheerful disposition | rel=r_associated | relid=0 | w=35
  544. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:childhood onset (average 4 to 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood onset (average 4 to 6 years) | rel=r_associated | relid=0 | w=35
  545. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product
    n1=en:one patient reported (last curated november 2012) | n2=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | rel=r_associated | relid=0 | w=35
  546. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:clinical features present only if mutation inherited on paternal allele
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical features present only if mutation inherited on paternal allele | rel=r_associated | relid=0 | w=35
  547. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | rel=r_associated | relid=0 | w=35
  548. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | rel=r_associated | relid=0 | w=35
  549. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:clinical severity varies
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical severity varies | rel=r_associated | relid=0 | w=35
  550. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | rel=r_associated | relid=0 | w=35
  551. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:clubfoot is bilateral in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:clubfoot is bilateral in most patients | rel=r_associated | relid=0 | w=35
  552. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | rel=r_associated | relid=0 | w=35
  553. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:common in afrikaan population, south africa
    n1=en:one patient reported (last curated november 2012) | n2=en:common in afrikaan population, south africa | rel=r_associated | relid=0 | w=35
  554. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:congenital disorders
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital disorders | rel=r_associated | relid=0 | w=35
  555. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | rel=r_associated | relid=0 | w=35
  556. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:connatal form (type ii), most severe with death in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:connatal form (type ii), most severe with death in first decade | rel=r_associated | relid=0 | w=35
  557. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:considered to be a manifestation of the caudal regression syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:considered to be a manifestation of the caudal regression syndrome | rel=r_associated | relid=0 | w=35
  558. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:contiguous gene deletion syndrome of 5q31
    n1=en:one patient reported (last curated november 2012) | n2=en:contiguous gene deletion syndrome of 5q31 | rel=r_associated | relid=0 | w=35
  559. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:crisis precipitated by high altitude exposure
    n1=en:one patient reported (last curated november 2012) | n2=en:crisis precipitated by high altitude exposure | rel=r_associated | relid=0 | w=35
  560. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)
    n1=en:one patient reported (last curated november 2012) | 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=35
  561. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death at 13 to 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death at 13 to 30 years | rel=r_associated | relid=0 | w=35
  562. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death by age 15 months
    n1=en:one patient reported (last curated november 2012) | n2=en:death by age 15 months | rel=r_associated | relid=0 | w=35
  563. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death by age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death by age 3 years | rel=r_associated | relid=0 | w=35
  564. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death by age 6-7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death by age 6-7 years | rel=r_associated | relid=0 | w=35
  565. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death can occur in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death can occur in infancy | rel=r_associated | relid=0 | w=35
  566. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death frequent in severe infantile form
    n1=en:one patient reported (last curated november 2012) | n2=en:death frequent in severe infantile form | rel=r_associated | relid=0 | w=35
  567. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death in childhood may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood may occur | rel=r_associated | relid=0 | w=35
  568. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death in childhood may occur due to infection
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood may occur due to infection | rel=r_associated | relid=0 | w=35
  569. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death in early childhood may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:death in early childhood may occur | rel=r_associated | relid=0 | w=35
  570. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death in first weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death in first weeks of life | rel=r_associated | relid=0 | w=35
  571. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death in teens secondary to cardiac failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death in teens secondary to cardiac failure | rel=r_associated | relid=0 | w=35
  572. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death in utero
    n1=en:one patient reported (last curated november 2012) | n2=en:death in utero | rel=r_associated | relid=0 | w=35
  573. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death in utero or as neonate
    n1=en:one patient reported (last curated november 2012) | n2=en:death in utero or as neonate | rel=r_associated | relid=0 | w=35
  574. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death occurs 5 to 10 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:death occurs 5 to 10 years after onset | rel=r_associated | relid=0 | w=35
  575. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death occurs before 12 months of age due to cardiorespiratory arrest
    n1=en:one patient reported (last curated november 2012) | n2=en:death occurs before 12 months of age due to cardiorespiratory arrest | rel=r_associated | relid=0 | w=35
  576. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death often occurs in the first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death often occurs in the first decade | rel=r_associated | relid=0 | w=35
  577. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death usually by age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually by age 3 years | rel=r_associated | relid=0 | w=35
  578. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death usually in first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=35
  579. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death usually in infancy due to respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in infancy due to respiratory failure | rel=r_associated | relid=0 | w=35
  580. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:death within 6 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:death within 6 years after onset | rel=r_associated | relid=0 | w=35
  581. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:delayed psychomotor development apparent in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:delayed psychomotor development apparent in infancy | rel=r_associated | relid=0 | w=35
  582. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:dermatitis resolves in offspring after zinc supplementation and/or weaning
    n1=en:one patient reported (last curated november 2012) | n2=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | rel=r_associated | relid=0 | w=35
  583. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  584. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:die at birth or shortly after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:die at birth or shortly after birth | rel=r_associated | relid=0 | w=35
  585. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:disease course depends on age at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:disease course depends on age at onset | rel=r_associated | relid=0 | w=35
  586. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:disease steadily progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:disease steadily progressive | rel=r_associated | relid=0 | w=35
  587. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | rel=r_associated | relid=0 | w=35
  588. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | rel=r_associated | relid=0 | w=35
  589. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:distinct disorder from myasthenia gravis (mg, 254200)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from myasthenia gravis (mg, 254200) | rel=r_associated | relid=0 | w=35
  590. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:distinctive and stereotyped sequence of events
    n1=en:one patient reported (last curated november 2012) | n2=en:distinctive and stereotyped sequence of events | rel=r_associated | relid=0 | w=35
  591. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:diurnal fluctuation of neurologic symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=35
  592. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:due to lack of epidermal ridging, patients lack fingerprints
    n1=en:one patient reported (last curated november 2012) | n2=en:due to lack of epidermal ridging, patients lack fingerprints | rel=r_associated | relid=0 | w=35
  593. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:dysarthria, dysphonia, or cough precede onset of ataxia
    n1=en:one patient reported (last curated november 2012) | n2=en:dysarthria, dysphonia, or cough precede onset of ataxia | rel=r_associated | relid=0 | w=35
  594. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:dysmorphic facial features are subtle
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic facial features are subtle | rel=r_associated | relid=0 | w=35
  595. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:earlier onset is associated with a more severe disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=35
  596. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:early childhood lethality may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:early childhood lethality may occur | rel=r_associated | relid=0 | w=35
  597. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:early death may occur from cardiogenic shock preceded by arrhythmia
    n1=en:one patient reported (last curated november 2012) | n2=en:early death may occur from cardiogenic shock preceded by arrhythmia | rel=r_associated | relid=0 | w=35
  598. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:early death may occur without bone marrow transplant
    n1=en:one patient reported (last curated november 2012) | n2=en:early death may occur without bone marrow transplant | rel=r_associated | relid=0 | w=35
  599. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:early death, usually before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:early death, usually before age 2 years | rel=r_associated | relid=0 | w=35
  600. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:early diagnosis and treatment prevent many complications
    n1=en:one patient reported (last curated november 2012) | n2=en:early diagnosis and treatment prevent many complications | rel=r_associated | relid=0 | w=35
  601. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:early onset (1 month to 4 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset (1 month to 4 years) | rel=r_associated | relid=0 | w=35
  602. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:elevated body temperatures to 42 degrees celsius
    n1=en:one patient reported (last curated november 2012) | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=35
  603. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported
    n1=en:one patient reported (last curated november 2012) | n2=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | rel=r_associated | relid=0 | w=35
  604. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:enterocolitis tends to remit with age
    n1=en:one patient reported (last curated november 2012) | n2=en:enterocolitis tends to remit with age | rel=r_associated | relid=0 | w=35
  605. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:environmental triggers - cold and wet exposure
    n1=en:one patient reported (last curated november 2012) | n2=en:environmental triggers - cold and wet exposure | rel=r_associated | relid=0 | w=35
  606. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:episode frequency is monthly to yearly, and decreases with age
    n1=en:one patient reported (last curated november 2012) | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=35
  607. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:episodes not triggered by alcohol, caffeine, or stress
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes not triggered by alcohol, caffeine, or stress | rel=r_associated | relid=0 | w=35
  608. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:episodic
    n1=en:one patient reported (last curated november 2012) | n2=en:episodic | rel=r_associated | relid=0 | w=35
  609. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:episodic metabolic decompensation usually associated with illness
    n1=en:one patient reported (last curated november 2012) | n2=en:episodic metabolic decompensation usually associated with illness | rel=r_associated | relid=0 | w=35
  610. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | rel=r_associated | relid=0 | w=35
  611. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:evidence of incomplete penetrance in one family
    n1=en:one patient reported (last curated november 2012) | n2=en:evidence of incomplete penetrance in one family | rel=r_associated | relid=0 | w=35
  612. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:familial form
    n1=en:one patient reported (last curated november 2012) | n2=en:familial form | rel=r_associated | relid=0 | w=35
  613. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:fatal before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=35
  614. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:fatal in first few months of life in most cases
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal in first few months of life in most cases | rel=r_associated | relid=0 | w=35
  615. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:fatal without hematopoietic stem cell transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal without hematopoietic stem cell transplantation | rel=r_associated | relid=0 | w=35
  616. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:fatigue
    n1=en:one patient reported (last curated november 2012) | n2=en:fatigue | rel=r_associated | relid=0 | w=35
  617. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:favorable response to a ketogenic diet
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to a ketogenic diet | rel=r_associated | relid=0 | w=35
  618. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:favorable response to acetylcholinesterase inhibitors
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=35
  619. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:favorable response to antiepileptic medication
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to antiepileptic medication | rel=r_associated | relid=0 | w=35
  620. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:features are highly variable
    n1=en:one patient reported (last curated november 2012) | n2=en:features are highly variable | rel=r_associated | relid=0 | w=35
  621. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients
    n1=en:one patient reported (last curated november 2012) | n2=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | rel=r_associated | relid=0 | w=35
  622. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:features usually appear during adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:features usually appear during adulthood | rel=r_associated | relid=0 | w=35
  623. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:feet are unaffected in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:feet are unaffected in some patients | rel=r_associated | relid=0 | w=35
  624. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:female carriers may have cardiac defects
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have cardiac defects | rel=r_associated | relid=0 | w=35
  625. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:female carriers may show intermittent hematuria
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=35
  626. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:female predominance (4:1)
    n1=en:one patient reported (last curated november 2012) | n2=en:female predominance (4:1) | rel=r_associated | relid=0 | w=35
  627. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:females often show milder phenotype with later onset of cardiac symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=35
  628. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:fever, muscle cramping, and poor feeding remit by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:fever, muscle cramping, and poor feeding remit by age 2 years | rel=r_associated | relid=0 | w=35
  629. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:few patients with mild to moderate mental retardation
    n1=en:one patient reported (last curated november 2012) | n2=en:few patients with mild to moderate mental retardation | rel=r_associated | relid=0 | w=35
  630. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:first described in acadian population of louisiana
    n1=en:one patient reported (last curated november 2012) | n2=en:first described in acadian population of louisiana | rel=r_associated | relid=0 | w=35
  631. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:first described in gypsy group from bulgaria
    n1=en:one patient reported (last curated november 2012) | n2=en:first described in gypsy group from bulgaria | rel=r_associated | relid=0 | w=35
  632. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:first identified in individuals of cypriot origin
    n1=en:one patient reported (last curated november 2012) | n2=en:first identified in individuals of cypriot origin | rel=r_associated | relid=0 | w=35
  633. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:five reported patients, all boys (as of july 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:five reported patients, all boys (as of july 2009) | rel=r_associated | relid=0 | w=35
  634. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:fluoxetine therapy may be effective
    n1=en:one patient reported (last curated november 2012) | n2=en:fluoxetine therapy may be effective | rel=r_associated | relid=0 | w=35
  635. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:four types of cgd with basically identical clinical phenotypes
    n1=en:one patient reported (last curated november 2012) | n2=en:four types of cgd with basically identical clinical phenotypes | rel=r_associated | relid=0 | w=35
  636. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)
    n1=en:one patient reported (last curated november 2012) | n2=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | rel=r_associated | relid=0 | w=35
  637. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:fracture frequency decreased post puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=35
  638. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:frequency of episodes ranges from several per week to several per year
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency of episodes ranges from several per week to several per year | rel=r_associated | relid=0 | w=35
  639. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy
    n1=en:one patient reported (last curated november 2012) | n2=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | rel=r_associated | relid=0 | w=35
  640. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:generally mild phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:generally mild phenotype | rel=r_associated | relid=0 | w=35
  641. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:generally static disease course
    n1=en:one patient reported (last curated november 2012) | n2=en:generally static disease course | rel=r_associated | relid=0 | w=35
  642. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 613254)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 613254) | rel=r_associated | relid=0 | w=35
  643. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | rel=r_associated | relid=0 | w=35
  644. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see cmt2a 118210)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmt2a 118210) | rel=r_associated | relid=0 | w=35
  645. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see cmtdia 606483)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmtdia 606483) | rel=r_associated | relid=0 | w=35
  646. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=35
  647. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see hcfp1, 601471)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see hcfp1, 601471) | rel=r_associated | relid=0 | w=35
  648. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see lqt1 192500)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see lqt1 192500) | rel=r_associated | relid=0 | w=35
  649. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | rel=r_associated | relid=0 | w=35
  650. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see (203300)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see (203300) | rel=r_associated | relid=0 | w=35
  651. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | rel=r_associated | relid=0 | w=35
  652. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see mgr1 (157300)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see mgr1 (157300) | rel=r_associated | relid=0 | w=35
  653. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:gonadal and somatic mosaicism reported in parent
    n1=en:one patient reported (last curated november 2012) | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=35
  654. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:growth retardation onset in utero
    n1=en:one patient reported (last curated november 2012) | n2=en:growth retardation onset in utero | rel=r_associated | relid=0 | w=35
  655. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:hair, nails, and teeth are normal
    n1=en:one patient reported (last curated november 2012) | n2=en:hair, nails, and teeth are normal | rel=r_associated | relid=0 | w=35
  656. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:hand involvement improves with age
    n1=en:one patient reported (last curated november 2012) | n2=en:hand involvement improves with age | rel=r_associated | relid=0 | w=35
  657. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)
    n1=en:one patient reported (last curated november 2012) | n2=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | rel=r_associated | relid=0 | w=35
  658. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:has been described in patients of caucasus jewish origin
    n1=en:one patient reported (last curated november 2012) | n2=en:has been described in patients of caucasus jewish origin | rel=r_associated | relid=0 | w=35
  659. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:hearing loss is variable
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss is variable | rel=r_associated | relid=0 | w=35
  660. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:hearing loss progresses to profound deafness
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss progresses to profound deafness | rel=r_associated | relid=0 | w=35
  661. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:heterozygotes have mild, transient hypothyroidism in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes have mild, transient hypothyroidism in infancy | rel=r_associated | relid=0 | w=35
  662. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=35
  663. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:heterozygous females may exhibit variable degrees of enzyme deficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=35
  664. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:heterozygous females may have situs inversus or other midline defects
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=35
  665. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=35
  666. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:high frequencies affected before low frequencies
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=35
  667. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:high frequency of levodopa-induced dyskinesias
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=35
  668. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:high infant mortality due to malnutrition as well as complications of parenteral nutrition
    n1=en:one patient reported (last curated november 2012) | n2=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | rel=r_associated | relid=0 | w=35
  669. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:high intrafamilial and interfamilial variability
    n1=en:one patient reported (last curated november 2012) | n2=en:high intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=35
  670. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:high prevalence among individuals of middle eastern or african descent
    n1=en:one patient reported (last curated november 2012) | n2=en:high prevalence among individuals of middle eastern or african descent | rel=r_associated | relid=0 | w=35
  671. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:high prevalence in the east asian population
    n1=en:one patient reported (last curated november 2012) | n2=en:high prevalence in the east asian population | rel=r_associated | relid=0 | w=35
  672. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:highest incidence in men of european descent
    n1=en:one patient reported (last curated november 2012) | n2=en:highest incidence in men of european descent | rel=r_associated | relid=0 | w=35
  673. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:highly variable degree of bone fragility, even among patients carrying the same mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable degree of bone fragility, even among patients carrying the same mutation | rel=r_associated | relid=0 | w=35
  674. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:hyperkeratosis often present at birth but may appear later
    n1=en:one patient reported (last curated november 2012) | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=35
  675. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:hypotonia may respond to treatment with pyridostigmine
    n1=en:one patient reported (last curated november 2012) | n2=en:hypotonia may respond to treatment with pyridostigmine | rel=r_associated | relid=0 | w=35
  676. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:immunologic defects are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=35
  677. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:immunosuppressive therapy may be beneficial
    n1=en:one patient reported (last curated november 2012) | n2=en:immunosuppressive therapy may be beneficial | rel=r_associated | relid=0 | w=35
  678. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:in general, men have more severe disease than women
    n1=en:one patient reported (last curated november 2012) | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=35
  679. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:in some patients, qtc interval is prolonged only during exercise testing
    n1=en:one patient reported (last curated november 2012) | n2=en:in some patients, qtc interval is prolonged only during exercise testing | rel=r_associated | relid=0 | w=35
  680. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence - 1/16,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=35
  681. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence 5-50 per million (children) and 10-40 per million (adults)
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 5-50 per million (children) and 10-40 per million (adults) | rel=r_associated | relid=0 | w=35
  682. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 120,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=35
  683. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 150,000 live births in the general population
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 150,000 live births in the general population | rel=r_associated | relid=0 | w=35
  684. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | rel=r_associated | relid=0 | w=35
  685. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 300,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 300,000 | rel=r_associated | relid=0 | w=35
  686. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | rel=r_associated | relid=0 | w=35
  687. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incidence of 4 per million per year
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 4 per million per year | rel=r_associated | relid=0 | w=35
  688. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incomplete penetrance (as low as 30% in some cases)
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance (as low as 30% in some cases) | rel=r_associated | relid=0 | w=35
  689. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | rel=r_associated | relid=0 | w=35
  690. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:increased frequency in finland (prevalence of 1 in 20,000)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in finland (prevalence of 1 in 20,000) | rel=r_associated | relid=0 | w=35
  691. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama
    n1=en:one patient reported (last curated november 2012) | 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=35
  692. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:increased frequency in the state of bahia, brazil
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in the state of bahia, brazil | rel=r_associated | relid=0 | w=35
  693. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:increased male to female ratio (7.5:1)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=35
  694. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:increased risk of developing multiple primary cancers
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of developing multiple primary cancers | rel=r_associated | relid=0 | w=35
  695. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:initial development may appear normal
    n1=en:one patient reported (last curated november 2012) | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=35
  696. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:intermediate expression in females
    n1=en:one patient reported (last curated november 2012) | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=35
  697. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  698. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:intrafamilial phenotypic variation may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=35
  699. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:joint dislocations become less frequent with age
    n1=en:one patient reported (last curated november 2012) | n2=en:joint dislocations become less frequent with age | rel=r_associated | relid=0 | w=35
  700. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:juvenile form has onset between 4 and 19 years
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=35
  701. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:juvenile-onset (before 15 years of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile-onset (before 15 years of age) | rel=r_associated | relid=0 | w=35
  702. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:laboratory comment:txt:pt:report:nar
    n1=en:one patient reported (last curated november 2012) | n2=en:laboratory comment:txt:pt:report:nar | rel=r_associated | relid=0 | w=35
  703. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:laboratory director name:pn:pt:provider:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:laboratory director name:pn:pt:provider:nom | rel=r_associated | relid=0 | w=35
  704. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:later onset can also occur (up to age 17 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=35
  705. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:left side involvement associated with serious cardiac defect
    n1=en:one patient reported (last curated november 2012) | n2=en:left side involvement associated with serious cardiac defect | rel=r_associated | relid=0 | w=35
  706. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:length of time post dose:time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:length of time post dose:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=35
  707. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:lesions occur mainly on the pinnae of the ears or on the face
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions occur mainly on the pinnae of the ears or on the face | rel=r_associated | relid=0 | w=35
  708. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:longer disease duration than creutzfeldt-jakob disease
    n1=en:one patient reported (last curated november 2012) | n2=en:longer disease duration than creutzfeldt-jakob disease | rel=r_associated | relid=0 | w=35
  709. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:low physical performance
    n1=en:one patient reported (last curated november 2012) | n2=en:low physical performance | rel=r_associated | relid=0 | w=35
  710. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:majority are sporadic cases, affected sibs have been described
    n1=en:one patient reported (last curated november 2012) | n2=en:majority are sporadic cases, affected sibs have been described | rel=r_associated | relid=0 | w=35
  711. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:majority of cases have been sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=35
  712. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:majority of cases have bilateral involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases have bilateral involvement | rel=r_associated | relid=0 | w=35
  713. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:majority of cases sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=35
  714. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:male to female ratio is greater than 3:1
    n1=en:one patient reported (last curated november 2012) | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=35
  715. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:male-to-female ratio 3 to 1
    n1=en:one patient reported (last curated november 2012) | n2=en:male-to-female ratio 3 to 1 | rel=r_associated | relid=0 | w=35
  716. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:male-to-female ratio of 3:2 in childhood cases
    n1=en:one patient reported (last curated november 2012) | n2=en:male-to-female ratio of 3:2 in childhood cases | rel=r_associated | relid=0 | w=35
  717. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:males are more commonly affected than females
    n1=en:one patient reported (last curated november 2012) | n2=en:males are more commonly affected than females | rel=r_associated | relid=0 | w=35
  718. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:manifests in infancy (including neonatal lethal) or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=35
  719. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)
    n1=en:one patient reported (last curated november 2012) | n2=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | rel=r_associated | relid=0 | w=35
  720. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:many cases result from de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:many cases result from de novo mutations | rel=r_associated | relid=0 | w=35
  721. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:many patients lose independent mobility after 25 years
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=35
  722. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:massive aortic aneurysm can cause airway compression in affected infants
    n1=en:one patient reported (last curated november 2012) | n2=en:massive aortic aneurysm can cause airway compression in affected infants | rel=r_associated | relid=0 | w=35
  723. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:maternal breast milk is protective
    n1=en:one patient reported (last curated november 2012) | n2=en:maternal breast milk is protective | rel=r_associated | relid=0 | w=35
  724. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:may be exacerbated by febrile illness
    n1=en:one patient reported (last curated november 2012) | n2=en:may be exacerbated by febrile illness | rel=r_associated | relid=0 | w=35
  725. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:may be induced by fever or hot bath
    n1=en:one patient reported (last curated november 2012) | n2=en:may be induced by fever or hot bath | rel=r_associated | relid=0 | w=35
  726. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:may be progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:may be progressive | rel=r_associated | relid=0 | w=35
  727. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mean age at onset 10.6 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=35
  728. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mean age at onset 35 years (range 20-60)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=35
  729. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mean age of diagnosis of uterine leiomyomas is 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of diagnosis of uterine leiomyomas is 30 years | rel=r_associated | relid=0 | w=35
  730. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mean age of onset 18 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 18 years | rel=r_associated | relid=0 | w=35
  731. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mean age of onset 50.2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 50.2 years | rel=r_associated | relid=0 | w=35
  732. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:median age of diagnosis is 28 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=35
  733. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:median life expectancy, 13.4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median life expectancy, 13.4 years | rel=r_associated | relid=0 | w=35
  734. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:median survival is > 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=35
  735. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:medullary thyroid cancer is aggressive and can occur in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=35
  736. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:metabolic decompensation, episodic
    n1=en:one patient reported (last curated november 2012) | n2=en:metabolic decompensation, episodic | rel=r_associated | relid=0 | w=35
  737. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:metabolic encephalomyopathic crises often triggered by infection
    n1=en:one patient reported (last curated november 2012) | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=35
  738. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mild to severe forms of disease
    n1=en:one patient reported (last curated november 2012) | n2=en:mild to severe forms of disease | rel=r_associated | relid=0 | w=35
  739. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
    n1=en:one patient reported (last curated november 2012) | n2=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | rel=r_associated | relid=0 | w=35
  740. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most (80 to 90%) of cases result from deletions of the sts gene
    n1=en:one patient reported (last curated november 2012) | n2=en:most (80 to 90%) of cases result from deletions of the sts gene | rel=r_associated | relid=0 | w=35
  741. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most affected patients die in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:most affected patients die in childhood | rel=r_associated | relid=0 | w=35
  742. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most cases result from de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases result from de novo mutations | rel=r_associated | relid=0 | w=35
  743. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most common cancer in men aged 15-40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:most common cancer in men aged 15-40 years | rel=r_associated | relid=0 | w=35
  744. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most common form of bowel obstruction in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:most common form of bowel obstruction in infancy | rel=r_associated | relid=0 | w=35
  745. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most common form of porphyria
    n1=en:one patient reported (last curated november 2012) | n2=en:most common form of porphyria | rel=r_associated | relid=0 | w=35
  746. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most patients appear unaffected in the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients appear unaffected in the first year of life | rel=r_associated | relid=0 | w=35
  747. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most patients are asymptomatic and are detected by newborn screening
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are asymptomatic and are detected by newborn screening | rel=r_associated | relid=0 | w=35
  748. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most patients become wheelchair-bound in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become wheelchair-bound in adolescence | rel=r_associated | relid=0 | w=35
  749. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most patients die in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die in early childhood | rel=r_associated | relid=0 | w=35
  750. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:most retain independent ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:most retain independent ambulation | rel=r_associated | relid=0 | w=35
  751. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mother who carries the mutation is clinically unaffected
    n1=en:one patient reported (last curated november 2012) | n2=en:mother who carries the mutation is clinically unaffected | rel=r_associated | relid=0 | w=35
  752. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:motor symptoms develop later (about 5 years into illness)
    n1=en:one patient reported (last curated november 2012) | n2=en:motor symptoms develop later (about 5 years into illness) | rel=r_associated | relid=0 | w=35
  753. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees
    n1=en:one patient reported (last curated november 2012) | n2=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | rel=r_associated | relid=0 | w=35
  754. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:multiple prenatal fractures
    n1=en:one patient reported (last curated november 2012) | n2=en:multiple prenatal fractures | rel=r_associated | relid=0 | w=35
  755. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:multiple spontaneous abortions in obligate carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:multiple spontaneous abortions in obligate carriers | rel=r_associated | relid=0 | w=35
  756. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:muscle symptoms precede cardiac symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:muscle symptoms precede cardiac symptoms | rel=r_associated | relid=0 | w=35
  757. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
    n1=en:one patient reported (last curated november 2012) | 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=35
  758. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:mutations have been identified in spanish families
    n1=en:one patient reported (last curated november 2012) | n2=en:mutations have been identified in spanish families | rel=r_associated | relid=0 | w=35
  759. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:myoclonus occurs at rest and with action
    n1=en:one patient reported (last curated november 2012) | n2=en:myoclonus occurs at rest and with action | rel=r_associated | relid=0 | w=35
  760. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:natural aversion to carbohydrates and favoring of protein
    n1=en:one patient reported (last curated november 2012) | n2=en:natural aversion to carbohydrates and favoring of protein | rel=r_associated | relid=0 | w=35
  761. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:nearly 100% penetrance by 60 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:nearly 100% penetrance by 60 years of age | rel=r_associated | relid=0 | w=35
  762. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:neonatal death
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal death | rel=r_associated | relid=0 | w=35
  763. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:neurologic deterioration is severe after age 2 to 2.5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic deterioration is severe after age 2 to 2.5 years | rel=r_associated | relid=0 | w=35
  764. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:neurologic features have been diagnosed in ~30% of cases
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic features have been diagnosed in ~30% of cases | rel=r_associated | relid=0 | w=35
  765. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:nine patients have been reported in detail (as of 14 june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:nine patients have been reported in detail (as of 14 june 2011) | rel=r_associated | relid=0 | w=35
  766. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:no clinical manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:no clinical manifestations | rel=r_associated | relid=0 | w=35
  767. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:no dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:no dysmorphic features | rel=r_associated | relid=0 | w=35
  768. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:no family history, de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:no family history, de novo mutations | rel=r_associated | relid=0 | w=35
  769. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:no laterality defects
    n1=en:one patient reported (last curated november 2012) | n2=en:no laterality defects | rel=r_associated | relid=0 | w=35
  770. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:no opportunistic infections
    n1=en:one patient reported (last curated november 2012) | n2=en:no opportunistic infections | rel=r_associated | relid=0 | w=35
  771. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:no phenotype in heterozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:no phenotype in heterozygotes | rel=r_associated | relid=0 | w=35
  772. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:no skin abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:no skin abnormalities | rel=r_associated | relid=0 | w=35
  773. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)
    n1=en:one patient reported (last curated november 2012) | n2=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | rel=r_associated | relid=0 | w=35
  774. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | rel=r_associated | relid=0 | w=35
  775. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:observed in individuals of bulgarian roma bowlmaker ethnic group
    n1=en:one patient reported (last curated november 2012) | n2=en:observed in individuals of bulgarian roma bowlmaker ethnic group | rel=r_associated | relid=0 | w=35
  776. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:occasionally low-dose insulin required
    n1=en:one patient reported (last curated november 2012) | n2=en:occasionally low-dose insulin required | rel=r_associated | relid=0 | w=35
  777. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:occurs in 1 in 50,000 newborn males
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in 1 in 50,000 newborn males | rel=r_associated | relid=0 | w=35
  778. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:occurs in full-term newborns
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in full-term newborns | rel=r_associated | relid=0 | w=35
  779. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:occurs in the absence of trauma
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in the absence of trauma | rel=r_associated | relid=0 | w=35
  780. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:occurs most often in developing countries in tropical regions
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs most often in developing countries in tropical regions | rel=r_associated | relid=0 | w=35
  781. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:oculomotor apraxia is not always present
    n1=en:one patient reported (last curated november 2012) | n2=en:oculomotor apraxia is not always present | rel=r_associated | relid=0 | w=35
  782. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:older patients become wheelchair-dependent
    n1=en:one patient reported (last curated november 2012) | n2=en:older patients become wheelchair-dependent | rel=r_associated | relid=0 | w=35
  783. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene
    n1=en:one patient reported (last curated november 2012) | n2=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | rel=r_associated | relid=0 | w=35
  784. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | rel=r_associated | relid=0 | w=35
  785. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=35
  786. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one boy and 5 unrelated girls have been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=35
  787. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one compound heterozygous patient reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one compound heterozygous patient reported (last curated february 2015) | rel=r_associated | relid=0 | w=35
  788. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) | rel=r_associated | relid=0 | w=35
  789. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one consanguineous family with a recessive mutation has been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=35
  790. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=35
  791. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one consanguineous pakistani family has been described (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been described (last curated march 2015) | rel=r_associated | relid=0 | w=35
  792. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one consanguineous saudi arabian family has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=35
  793. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one consanguineous turkish family has been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous turkish family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=35
  794. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family and 1 unrelated patient have been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family and 1 unrelated patient have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=35
  795. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family and an unrelated patient have been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family and an unrelated patient have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35
  796. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=35
  797. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family from hong kong has been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family from hong kong has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=35
  798. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family has been described (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=35
  799. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated august 2013) | rel=r_associated | relid=0 | w=35
  800. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated december 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated december 2013) | rel=r_associated | relid=0 | w=35
  801. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=35
  802. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35
  803. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=35
  804. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  805. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | rel=r_associated | relid=0 | w=35
  806. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one french family has been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one french family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35
  807. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)
    n1=en:one patient reported (last curated november 2012) | 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=35
  808. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one large italian kindred has been reported (last curated november 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large italian kindred has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=35
  809. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | rel=r_associated | relid=0 | w=35
  810. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | 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=35
  811. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (as of april 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of april 2011) | rel=r_associated | relid=0 | w=35
  812. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (as of curation date may, 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of curation date may, 2013) | rel=r_associated | relid=0 | w=35
  813. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (as of december 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of december 2011) | rel=r_associated | relid=0 | w=35
  814. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated july 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated july 2013) | rel=r_associated | relid=0 | w=35
  815. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=35
  816. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=35
  817. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=35
  818. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one patient was asymptomatic and detected by neonatal screening
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient was asymptomatic and detected by neonatal screening | rel=r_associated | relid=0 | w=35
  819. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:one-third of cases are sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:one-third of cases are sporadic | rel=r_associated | relid=0 | w=35
  820. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset 14 months to 4 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 14 months to 4 years of age | rel=r_associated | relid=0 | w=35
  821. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset 50 to 65 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 50 to 65 years | rel=r_associated | relid=0 | w=35
  822. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset 6 to 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 6 to 30 years | rel=r_associated | relid=0 | w=35
  823. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset 6-13 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 6-13 years | rel=r_associated | relid=0 | w=35
  824. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset 70-90 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 70-90 years | rel=r_associated | relid=0 | w=35
  825. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset age 14-28 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset age 14-28 years | rel=r_associated | relid=0 | w=35
  826. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset age 15-25 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset age 15-25 years | rel=r_associated | relid=0 | w=35
  827. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset at age 36 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at age 36 years | rel=r_associated | relid=0 | w=35
  828. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset at age 5 to 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at age 5 to 15 years | rel=r_associated | relid=0 | w=35
  829. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset at age 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at age 5 years | rel=r_associated | relid=0 | w=35
  830. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset between 28 and 42 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 28 and 42 years | rel=r_associated | relid=0 | w=35
  831. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset between 28-32 weeks of gestation
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 28-32 weeks of gestation | rel=r_associated | relid=0 | w=35
  832. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset between 3 and 8 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 3 and 8 months of age | rel=r_associated | relid=0 | w=35
  833. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset between 6 and 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 6 and 15 years | rel=r_associated | relid=0 | w=35
  834. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset between age 2 and 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between age 2 and 15 years | rel=r_associated | relid=0 | w=35
  835. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset between ages 5 and 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between ages 5 and 15 years | rel=r_associated | relid=0 | w=35
  836. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset birth to early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset birth to early childhood | rel=r_associated | relid=0 | w=35
  837. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age | rel=r_associated | relid=0 | w=35
  838. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in adolescence or young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in adolescence or young adulthood | rel=r_associated | relid=0 | w=35
  839. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in childhood or adolescence in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or adolescence in most patients | rel=r_associated | relid=0 | w=35
  840. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in early childhood (infancy to age 7 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood (infancy to age 7 years) | rel=r_associated | relid=0 | w=35
  841. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in first decade (birth to age 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade (birth to age 5 years) | rel=r_associated | relid=0 | w=35
  842. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in first decade (range 1 to 7 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade (range 1 to 7 years) | rel=r_associated | relid=0 | w=35
  843. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first months of life | rel=r_associated | relid=0 | w=35
  844. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in first months or years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first months or years of life | rel=r_associated | relid=0 | w=35
  845. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in first weeks or months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first weeks or months of life | rel=r_associated | relid=0 | w=35
  846. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in infancy (3 to 7 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy (3 to 7 months) | rel=r_associated | relid=0 | w=35
  847. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in infancy after weaning
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy after weaning | rel=r_associated | relid=0 | w=35
  848. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in infancy or at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or at birth | rel=r_associated | relid=0 | w=35
  849. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in infancy or childhood (range 1 to 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or childhood (range 1 to 6 years) | rel=r_associated | relid=0 | w=35
  850. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in infancy or in the first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or in the first months of life | rel=r_associated | relid=0 | w=35
  851. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in late childhood (after age 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late childhood (after age 10 years) | rel=r_associated | relid=0 | w=35
  852. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in late twenties to thirties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late twenties to thirties | rel=r_associated | relid=0 | w=35
  853. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in mid to late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in mid to late childhood | rel=r_associated | relid=0 | w=35
  854. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in second to fourth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second to fourth decade | rel=r_associated | relid=0 | w=35
  855. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in the first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the first 2 years of life | rel=r_associated | relid=0 | w=35
  856. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in the first or second decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the first or second decades of life | rel=r_associated | relid=0 | w=35
  857. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset in utero or at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in utero or at birth | rel=r_associated | relid=0 | w=35
  858. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of abnormal eye movements in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of abnormal eye movements in early childhood | rel=r_associated | relid=0 | w=35
  859. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of acne in adolescence, persists into adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of acne in adolescence, persists into adulthood | rel=r_associated | relid=0 | w=35
  860. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of bone fragility in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of bone fragility in childhood | rel=r_associated | relid=0 | w=35
  861. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of crises in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of crises in early childhood | rel=r_associated | relid=0 | w=35
  862. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of diabetes in neonatal period/ early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of diabetes in neonatal period/ early infancy | rel=r_associated | relid=0 | w=35
  863. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of disease 3-30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease 3-30 years | rel=r_associated | relid=0 | w=35
  864. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  865. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | rel=r_associated | relid=0 | w=35
  866. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in childhood | rel=r_associated | relid=0 | w=35
  867. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss in childhood (range 7 to 13 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in childhood (range 7 to 13 years) | rel=r_associated | relid=0 | w=35
  868. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss ranges from childhood to young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=35
  869. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade | rel=r_associated | relid=0 | w=35
  870. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of major clinical features in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of major clinical features in young adulthood | rel=r_associated | relid=0 | w=35
  871. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of mild symptoms in first or second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of mild symptoms in first or second decade | rel=r_associated | relid=0 | w=35
  872. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of motor disturbances in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of motor disturbances in childhood | rel=r_associated | relid=0 | w=35
  873. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of optic atrophy in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of optic atrophy in childhood | rel=r_associated | relid=0 | w=35
  874. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | rel=r_associated | relid=0 | w=35
  875. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of seizures around 7 to 12 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures around 7 to 12 years | rel=r_associated | relid=0 | w=35
  876. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset of seizures in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures in infancy or early childhood | rel=r_associated | relid=0 | w=35
  877. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset prenatally or at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset prenatally or at birth | rel=r_associated | relid=0 | w=35
  878. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually after viral-like infection
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually after viral-like infection | rel=r_associated | relid=0 | w=35
  879. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually at 2 to 6 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually at 2 to 6 months of age | rel=r_associated | relid=0 | w=35
  880. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually between 30 and 50 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually between 30 and 50 years of age | rel=r_associated | relid=0 | w=35
  881. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in adulthood | rel=r_associated | relid=0 | w=35
  882. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually in childhood (range 17 months to 39 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood (range 17 months to 39 years) | rel=r_associated | relid=0 | w=35
  883. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually in first or second decade (mean 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in first or second decade (mean 10 years) | rel=r_associated | relid=0 | w=35
  884. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually in infancy although later onset may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in infancy although later onset may occur | rel=r_associated | relid=0 | w=35
  885. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually in infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in infancy or childhood | rel=r_associated | relid=0 | w=35
  886. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually in second or third decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in second or third decades | rel=r_associated | relid=0 | w=35
  887. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:onset usually in the first 4 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in the first 4 years of life | rel=r_associated | relid=0 | w=35
  888. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  889. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:other muscle become involved about 5 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:other muscle become involved about 5 years after onset | rel=r_associated | relid=0 | w=35
  890. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  891. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:overlapping clinical spectrum and allelic to masa syndrome (303350)
    n1=en:one patient reported (last curated november 2012) | n2=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | rel=r_associated | relid=0 | w=35
  892. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients
    n1=en:one patient reported (last curated november 2012) | n2=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | rel=r_associated | relid=0 | w=35
  893. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:pathogenic alleles contain 75-11,000 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:pathogenic alleles contain 75-11,000 repeats | rel=r_associated | relid=0 | w=35
  894. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=35
  895. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems
    n1=en:one patient reported (last curated november 2012) | n2=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | rel=r_associated | relid=0 | w=35
  896. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients may become wheelchair-bound as adults
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may become wheelchair-bound as adults | rel=r_associated | relid=0 | w=35
  897. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | rel=r_associated | relid=0 | w=35
  898. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients may show normal development
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may show normal development | rel=r_associated | relid=0 | w=35
  899. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients remain ambulatory
    n1=en:one patient reported (last curated november 2012) | n2=en:patients remain ambulatory | rel=r_associated | relid=0 | w=35
  900. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients retain ambulation even after long disease course
    n1=en:one patient reported (last curated november 2012) | n2=en:patients retain ambulation even after long disease course | rel=r_associated | relid=0 | w=35
  901. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:one patient reported (last curated november 2012) | 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=35
  902. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | rel=r_associated | relid=0 | w=35
  903. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients with adult onset present with psychiatric features
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with adult onset present with psychiatric features | rel=r_associated | relid=0 | w=35
  904. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  905. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:patients with recessive mutations have a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with recessive mutations have a more severe phenotype | rel=r_associated | relid=0 | w=35
  906. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome
    n1=en:one patient reported (last curated november 2012) | 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=35
  907. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:performing laboratory:addr:pt:facility:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:performing laboratory:addr:pt:facility:nom | rel=r_associated | relid=0 | w=35
  908. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  909. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | rel=r_associated | relid=0 | w=35
  910. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | rel=r_associated | relid=0 | w=35
  911. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:phenotypic similarities to noonan syndrome (163950)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic similarities to noonan syndrome (163950) | rel=r_associated | relid=0 | w=35
  912. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:phenotypic variability, intrafamilial
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic variability, intrafamilial | rel=r_associated | relid=0 | w=35
  913. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:plasma cholinesterase measurement
    n1=en:one patient reported (last curated november 2012) | n2=en:plasma cholinesterase measurement | rel=r_associated | relid=0 | w=35
  914. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:poland syndrome can be associated with moebius syndrome (157900)
    n1=en:one patient reported (last curated november 2012) | n2=en:poland syndrome can be associated with moebius syndrome (157900) | rel=r_associated | relid=0 | w=35
  915. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:poor outcome
    n1=en:one patient reported (last curated november 2012) | n2=en:poor outcome | rel=r_associated | relid=0 | w=35
  916. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:poor response to acetylcholinesterase inhibitors
    n1=en:one patient reported (last curated november 2012) | n2=en:poor response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=35
  917. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:possible defect of a specific lipase in the pathway of free fatty acid oxidation
    n1=en:one patient reported (last curated november 2012) | n2=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | rel=r_associated | relid=0 | w=35
  918. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:possible x-linked dominant inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:possible x-linked dominant inheritance | rel=r_associated | relid=0 | w=35
  919. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:postlingual onset
    n1=en:one patient reported (last curated november 2012) | n2=en:postlingual onset | rel=r_associated | relid=0 | w=35
  920. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:precipitated by mechanical compression or pressure on nerve
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitated by mechanical compression or pressure on nerve | rel=r_associated | relid=0 | w=35
  921. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:predisposition to neoplasia
    n1=en:one patient reported (last curated november 2012) | n2=en:predisposition to neoplasia | rel=r_associated | relid=0 | w=35
  922. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:presence of additional features is variable
    n1=en:one patient reported (last curated november 2012) | n2=en:presence of additional features is variable | rel=r_associated | relid=0 | w=35
  923. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:present at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:present at birth | rel=r_associated | relid=0 | w=35
  924. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:presentation after 18 months
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation after 18 months | rel=r_associated | relid=0 | w=35
  925. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:presentation at 3-6 weeks of age
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation at 3-6 weeks of age | rel=r_associated | relid=0 | w=35
  926. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency
    n1=en:one patient reported (last curated november 2012) | 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=35
  927. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence approximately 1 in 4,000 males
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence approximately 1 in 4,000 males | rel=r_associated | relid=0 | w=35
  928. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence in caucasians is 1 in 1,000,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in caucasians is 1 in 1,000,000 | rel=r_associated | relid=0 | w=35
  929. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence in sardinia is 1 in 14,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in sardinia is 1 in 14,000 | rel=r_associated | relid=0 | w=35
  930. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 10,000 african-americans
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 10,000 african-americans | rel=r_associated | relid=0 | w=35
  931. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 227 hopi indians
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 227 hopi indians | rel=r_associated | relid=0 | w=35
  932. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 28,000 african-americans
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 28,000 african-americans | rel=r_associated | relid=0 | w=35
  933. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 28,000 caucasians
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 28,000 caucasians | rel=r_associated | relid=0 | w=35
  934. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalence of true hypoprothrombinemia is 1 in 2 million
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of true hypoprothrombinemia is 1 in 2 million | rel=r_associated | relid=0 | w=35
  935. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalent among individuals of east asian descent
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent among individuals of east asian descent | rel=r_associated | relid=0 | w=35
  936. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:prevalent in newfoundland
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in newfoundland | rel=r_associated | relid=0 | w=35
  937. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:progression more frequent in men than women
    n1=en:one patient reported (last curated november 2012) | n2=en:progression more frequent in men than women | rel=r_associated | relid=0 | w=35
  938. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | rel=r_associated | relid=0 | w=35
  939. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:progressive disorder regarding both neurologic and renal symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disorder regarding both neurologic and renal symptoms | rel=r_associated | relid=0 | w=35
  940. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:progressive sclerosis with age
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive sclerosis with age | rel=r_associated | relid=0 | w=35
  941. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:rapid progression to disability
    n1=en:one patient reported (last curated november 2012) | n2=en:rapid progression to disability | rel=r_associated | relid=0 | w=35
  942. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:rapidly progressive deterioration (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive deterioration (in some patients) | rel=r_associated | relid=0 | w=35
  943. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:rare adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:rare adult onset | rel=r_associated | relid=0 | w=35
  944. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:recurrent bacterial infections with onset in the first or second year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent bacterial infections with onset in the first or second year of life | rel=r_associated | relid=0 | w=35
  945. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | rel=r_associated | relid=0 | w=35
  946. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | rel=r_associated | relid=0 | w=35
  947. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=35
  948. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:relapsing-remitting course
    n1=en:one patient reported (last curated november 2012) | n2=en:relapsing-remitting course | rel=r_associated | relid=0 | w=35
  949. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:relatively mild cutis laxa, associated with severe vascular abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:relatively mild cutis laxa, associated with severe vascular abnormalities | rel=r_associated | relid=0 | w=35
  950. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:relief is achieved by cooling or by elevating the extremities
    n1=en:one patient reported (last curated november 2012) | n2=en:relief is achieved by cooling or by elevating the extremities | rel=r_associated | relid=0 | w=35
  951. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:reported in individuals of sephardic jewish ancestry
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in individuals of sephardic jewish ancestry | rel=r_associated | relid=0 | w=35
  952. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:respiratory distress may be precipitated by viral respiratory infection
    n1=en:one patient reported (last curated november 2012) | n2=en:respiratory distress may be precipitated by viral respiratory infection | rel=r_associated | relid=0 | w=35
  953. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:response to acetazolamide
    n1=en:one patient reported (last curated november 2012) | n2=en:response to acetazolamide | rel=r_associated | relid=0 | w=35
  954. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:responsive to high-dose biotin or biotin/thiamine treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:responsive to high-dose biotin or biotin/thiamine treatment | rel=r_associated | relid=0 | w=35
  955. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:responsive to thiazide diuretics
    n1=en:one patient reported (last curated november 2012) | n2=en:responsive to thiazide diuretics | rel=r_associated | relid=0 | w=35
  956. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see (277600) for a phenotypically similar autosomal recessive form
    n1=en:one patient reported (last curated november 2012) | n2=en:see (277600) for a phenotypically similar autosomal recessive form | rel=r_associated | relid=0 | w=35
  957. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)
    n1=en:one patient reported (last curated november 2012) | n2=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | rel=r_associated | relid=0 | w=35
  958. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see 607731 for an autosomal recessive form
    n1=en:one patient reported (last curated november 2012) | n2=en:see 607731 for an autosomal recessive form | rel=r_associated | relid=0 | w=35
  959. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also an adult-onset form (213600)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also an adult-onset form (213600) | rel=r_associated | relid=0 | w=35
  960. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | rel=r_associated | relid=0 | w=35
  961. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also autosomal form, 146450, and another x-linked form, 300633
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal form, 146450, and another x-linked form, 300633 | rel=r_associated | relid=0 | w=35
  962. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also autosomal recessive familial mediterranean fever (fmf, 249100)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | rel=r_associated | relid=0 | w=35
  963. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also autosomal recessive peob (258450)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal recessive peob (258450) | rel=r_associated | relid=0 | w=35
  964. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also autosomal recessive sick sinus syndrome (sss1, 608567)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | rel=r_associated | relid=0 | w=35
  965. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also distal hmn2a (158590)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also distal hmn2a (158590) | rel=r_associated | relid=0 | w=35
  966. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also dominant deb (131750), an allelic disorder with a less severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=35
  967. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features
    n1=en:one patient reported (last curated november 2012) | n2=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=35
  968. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also hmn2b (608634)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also hmn2b (608634) | rel=r_associated | relid=0 | w=35
  969. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also lethal neonatal (608836) and adult forms (255110)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also lethal neonatal (608836) and adult forms (255110) | rel=r_associated | relid=0 | w=35
  970. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also perinatal lethal variant (608013), which is more severe
    n1=en:one patient reported (last curated november 2012) | n2=en:see also perinatal lethal variant (608013), which is more severe | rel=r_associated | relid=0 | w=35
  971. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also pgl1 (168000)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pgl1 (168000) | rel=r_associated | relid=0 | w=35
  972. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | rel=r_associated | relid=0 | w=35
  973. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also the x-linked form (300291)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also the x-linked form (300291) | rel=r_associated | relid=0 | w=35
  974. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:see also x-linked leigh syndrome (312170)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also x-linked leigh syndrome (312170) | rel=r_associated | relid=0 | w=35
  975. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:seizure onset between 3 and 11 years
    n1=en:one patient reported (last curated november 2012) | n2=en:seizure onset between 3 and 11 years | rel=r_associated | relid=0 | w=35
  976. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:seizures and cognitive involvement are variable findings
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures and cognitive involvement are variable findings | rel=r_associated | relid=0 | w=35
  977. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:seizures may persist into adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may persist into adulthood | rel=r_associated | relid=0 | w=35
  978. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35
  979. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  980. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  981. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  982. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  983. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  984. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  985. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  986. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=35
  987. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  988. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:severe disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:severe disorder | rel=r_associated | relid=0 | w=35
  989. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:severe hypertension develops in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:severe hypertension develops in childhood | rel=r_associated | relid=0 | w=35
  990. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:severe neurodegenerative course resulting in a comatose state or death
    n1=en:one patient reported (last curated november 2012) | n2=en:severe neurodegenerative course resulting in a comatose state or death | rel=r_associated | relid=0 | w=35
  991. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay
    n1=en:one patient reported (last curated november 2012) | 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=35
  992. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:signs and symptoms depend on tumor location and activity
    n1=en:one patient reported (last curated november 2012) | n2=en:signs and symptoms depend on tumor location and activity | rel=r_associated | relid=0 | w=35
  993. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)
    n1=en:one patient reported (last curated november 2012) | n2=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | rel=r_associated | relid=0 | w=35
  994. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:similar to infantile neuroaxonal dystrophy (inad, 256600)
    n1=en:one patient reported (last curated november 2012) | n2=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | rel=r_associated | relid=0 | w=35
  995. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:simple febrile seizures usually remit by age 6 years
    n1=en:one patient reported (last curated november 2012) | n2=en:simple febrile seizures usually remit by age 6 years | rel=r_associated | relid=0 | w=35
  996. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:slc25a4 mutations account for approximately 4% of all peo cases
    n1=en:one patient reported (last curated november 2012) | n2=en:slc25a4 mutations account for approximately 4% of all peo cases | rel=r_associated | relid=0 | w=35
  997. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:slowly or non-progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:slowly or non-progressive | rel=r_associated | relid=0 | w=35
  998. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:smaller repeat lengths in younger generations (reverse anticipation)
    n1=en:one patient reported (last curated november 2012) | n2=en:smaller repeat lengths in younger generations (reverse anticipation) | rel=r_associated | relid=0 | w=35
  999. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some features are variably present
    n1=en:one patient reported (last curated november 2012) | n2=en:some features are variably present | rel=r_associated | relid=0 | w=35
  1000. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some features may be progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:some features may be progressive | rel=r_associated | relid=0 | w=35
  1001. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some more severely affected patients may die in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:some more severely affected patients may die in infancy | rel=r_associated | relid=0 | w=35
  1002. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents
    n1=en:one patient reported (last curated november 2012) | 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=35
  1003. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients become wheelchair-bound | rel=r_associated | relid=0 | w=35
  1004. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients can hold menial jobs
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients can hold menial jobs | rel=r_associated | relid=0 | w=35
  1005. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients experience respiratory infections in association with episodes of jaundice in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | rel=r_associated | relid=0 | w=35
  1006. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients have a crouzon-like appearance
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have a crouzon-like appearance | rel=r_associated | relid=0 | w=35
  1007. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients have a secreted but biologically inactive mutant leptin
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have a secreted but biologically inactive mutant leptin | rel=r_associated | relid=0 | w=35
  1008. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients may live to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may live to adulthood | rel=r_associated | relid=0 | w=35
  1009. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients may lose independent ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may lose independent ambulation | rel=r_associated | relid=0 | w=35
  1010. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients may present with myopathic features
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may present with myopathic features | rel=r_associated | relid=0 | w=35
  1011. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients may show neurologic improvement late in life
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may show neurologic improvement late in life | rel=r_associated | relid=0 | w=35
  1012. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients never achieve walking or running
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients never achieve walking or running | rel=r_associated | relid=0 | w=35
  1013. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients report cyclical changes in severity of symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients report cyclical changes in severity of symptoms | rel=r_associated | relid=0 | w=35
  1014. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients report increased tolerance to heat
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients report increased tolerance to heat | rel=r_associated | relid=0 | w=35
  1015. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients show a favorable response to sulfonylurea treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show a favorable response to sulfonylurea treatment | rel=r_associated | relid=0 | w=35
  1016. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients show infantile onset
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show infantile onset | rel=r_associated | relid=0 | w=35
  1017. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients show onset in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show onset in childhood | rel=r_associated | relid=0 | w=35
  1018. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients show rapid disease progression
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show rapid disease progression | rel=r_associated | relid=0 | w=35
  1019. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients show significant clinical improvement with riboflavin supplementation
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show significant clinical improvement with riboflavin supplementation | rel=r_associated | relid=0 | w=35
  1020. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients with advanced loss of vision have normal eog
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients with advanced loss of vision have normal eog | rel=r_associated | relid=0 | w=35
  1021. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some patients with heterozygous mutations may be symptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients with heterozygous mutations may be symptomatic | rel=r_associated | relid=0 | w=35
  1022. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  1023. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:some people with a cnnm2 mutation are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:some people with a cnnm2 mutation are asymptomatic | rel=r_associated | relid=0 | w=35
  1024. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | rel=r_associated | relid=0 | w=35
  1025. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:splenectomy increases thrombotic risk in these patients
    n1=en:one patient reported (last curated november 2012) | n2=en:splenectomy increases thrombotic risk in these patients | rel=r_associated | relid=0 | w=35
  1026. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:spontaneous bleeding is rare
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous bleeding is rare | rel=r_associated | relid=0 | w=35
  1027. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:spontaneous tumor regression may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous tumor regression may occur | rel=r_associated | relid=0 | w=35
  1028. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:stable or slowly progressive course
    n1=en:one patient reported (last curated november 2012) | n2=en:stable or slowly progressive course | rel=r_associated | relid=0 | w=35
  1029. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:stillborn or infantile death usual in prenatal form
    n1=en:one patient reported (last curated november 2012) | n2=en:stillborn or infantile death usual in prenatal form | rel=r_associated | relid=0 | w=35
  1030. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:subset of patients have leigh syndrome (256000)
    n1=en:one patient reported (last curated november 2012) | n2=en:subset of patients have leigh syndrome (256000) | rel=r_associated | relid=0 | w=35
  1031. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:sudden infantile death may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden infantile death may occur | rel=r_associated | relid=0 | w=35
  1032. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:survival to 10 years
    n1=en:one patient reported (last curated november 2012) | n2=en:survival to 10 years | rel=r_associated | relid=0 | w=35
  1033. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:survival to 20s-60s in iib
    n1=en:one patient reported (last curated november 2012) | n2=en:survival to 20s-60s in iib | rel=r_associated | relid=0 | w=35
  1034. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:survival to advanced age
    n1=en:one patient reported (last curated november 2012) | n2=en:survival to advanced age | rel=r_associated | relid=0 | w=35
  1035. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)
    n1=en:one patient reported (last curated november 2012) | n2=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | rel=r_associated | relid=0 | w=35
  1036. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:symptoms ameliorate with age
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms ameliorate with age | rel=r_associated | relid=0 | w=35
  1037. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:symptoms are not relieved by alcohol
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms are not relieved by alcohol | rel=r_associated | relid=0 | w=35
  1038. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | rel=r_associated | relid=0 | w=35
  1039. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:symptoms tend to improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms tend to improve with age | rel=r_associated | relid=0 | w=35
  1040. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:syncope
    n1=en:one patient reported (last curated november 2012) | n2=en:syncope | rel=r_associated | relid=0 | w=35
  1041. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:tendency to lighter pigmentation than unaffected relatives
    n1=en:one patient reported (last curated november 2012) | n2=en:tendency to lighter pigmentation than unaffected relatives | rel=r_associated | relid=0 | w=35
  1042. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> 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:one patient reported (last curated november 2012) | 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=35
  1043. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:three families have been reported (as of december 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (as of december 2011) | rel=r_associated | relid=0 | w=35
  1044. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:three families have been reported (last curated november 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (last curated november 2010) | rel=r_associated | relid=0 | w=35
  1045. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:three fetuses from 1 family have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35
  1046. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:three patients from 1 french canadian family have been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients from 1 french canadian family have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=35
  1047. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:three patients have been reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=35
  1048. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:time of analysis:tmstp:pt:xxx:qn
    n1=en:one patient reported (last curated november 2012) | n2=en:time of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=35
  1049. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:tooth agenesis ranges from 1 missing tooth to marked oligodontia
    n1=en:one patient reported (last curated november 2012) | n2=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | rel=r_associated | relid=0 | w=35
  1050. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:treatment with enzyme replacement therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with enzyme replacement therapy | rel=r_associated | relid=0 | w=35
  1051. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form
    n1=en:one patient reported (last curated november 2012) | n2=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | rel=r_associated | relid=0 | w=35
  1052. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two consanguineous families with two affected sibs each have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  1053. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two consanguineous turkish families have been reported (as of august 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two consanguineous turkish families have been reported (as of august 2011) | rel=r_associated | relid=0 | w=35
  1054. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two families have been reported (last curated december 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=35
  1055. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two families with different phenotypes have been reported (as of september 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families with different phenotypes have been reported (as of september 2010) | rel=r_associated | relid=0 | w=35
  1056. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout
    n1=en:one patient reported (last curated november 2012) | n2=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | rel=r_associated | relid=0 | w=35
  1057. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two patients have been reported (as of august 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=35
  1058. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two patients required liver transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients required liver transplantation | rel=r_associated | relid=0 | w=35
  1059. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1060. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two patients with point mutations in rad21 have been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=35
  1061. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two sibs have been reported (last curated july 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=35
  1062. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two sibs have been reported (last curated november 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=35
  1063. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two subtypes noninflammatory type a and inflammatory type b
    n1=en:one patient reported (last curated november 2012) | n2=en:two subtypes noninflammatory type a and inflammatory type b | rel=r_associated | relid=0 | w=35
  1064. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  1065. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=35
  1066. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35
  1067. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated june 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=35
  1068. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=35
  1069. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=35
  1070. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
  1071. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported to have hpca mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported to have hpca mutations | rel=r_associated | relid=0 | w=35
  1072. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | 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=35
  1073. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=35
  1074. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported (last curated march 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated march 2014) | rel=r_associated | relid=0 | w=35
  1075. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:type 2n is characterized by decreased binding affinity for factor viii
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2n is characterized by decreased binding affinity for factor viii | rel=r_associated | relid=0 | w=35
  1076. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:type ii is progressive and leads to shortened lifespan
    n1=en:one patient reported (last curated november 2012) | n2=en:type ii is progressive and leads to shortened lifespan | rel=r_associated | relid=0 | w=35
  1077. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:type ii patients are usually japanese and have significant aprt activity (10-25%)
    n1=en:one patient reported (last curated november 2012) | n2=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | rel=r_associated | relid=0 | w=35
  1078. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci
    n1=en:one patient reported (last curated november 2012) | 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=35
  1079. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:usual onset under age 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:usual onset under age 30 years | rel=r_associated | relid=0 | w=35
  1080. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:usually clinically asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:usually clinically asymptomatic | rel=r_associated | relid=0 | w=35
  1081. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:usually fatal
    n1=en:one patient reported (last curated november 2012) | n2=en:usually fatal | rel=r_associated | relid=0 | w=35
  1082. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:usually occurs in young adults
    n1=en:one patient reported (last curated november 2012) | n2=en:usually occurs in young adults | rel=r_associated | relid=0 | w=35
  1083. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)
    n1=en:one patient reported (last curated november 2012) | n2=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | rel=r_associated | relid=0 | w=35
  1084. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (childhood to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (childhood to adult) | rel=r_associated | relid=0 | w=35
  1085. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (infant to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (infant to adult) | rel=r_associated | relid=0 | w=35
  1086. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range 6 to 54 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 6 to 54 years) | rel=r_associated | relid=0 | w=35
  1087. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range 9 to 78 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 9 to 78 years) | rel=r_associated | relid=0 | w=35
  1088. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range first to fourth decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range first to fourth decade) | rel=r_associated | relid=0 | w=35
  1089. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, but most often in the first 2 decades
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, but most often in the first 2 decades | rel=r_associated | relid=0 | w=35
  1090. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, but usually in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, but usually in childhood | rel=r_associated | relid=0 | w=35
  1091. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, mostly in third decade (range teenage years to fourth decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | rel=r_associated | relid=0 | w=35
  1092. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age of onset (20 to 35 years old)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (20 to 35 years old) | rel=r_associated | relid=0 | w=35
  1093. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age of onset (range 1-40 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (range 1-40 years) | rel=r_associated | relid=0 | w=35
  1094. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable age of onset (range 4 to 47 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (range 4 to 47 years) | rel=r_associated | relid=0 | w=35
  1095. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable clinical phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:variable clinical phenotype | rel=r_associated | relid=0 | w=35
  1096. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable clinical severity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable clinical severity | rel=r_associated | relid=0 | w=35
  1097. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable frequency (2 per day up to 1 per month)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable frequency (2 per day up to 1 per month) | rel=r_associated | relid=0 | w=35
  1098. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable infectious phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:variable infectious phenotype | rel=r_associated | relid=0 | w=35
  1099. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable involvement of hematologic parameters
    n1=en:one patient reported (last curated november 2012) | n2=en:variable involvement of hematologic parameters | rel=r_associated | relid=0 | w=35
  1100. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable neurologic phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:variable neurologic phenotype | rel=r_associated | relid=0 | w=35
  1101. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable neuroradiologic findings
    n1=en:one patient reported (last curated november 2012) | n2=en:variable neuroradiologic findings | rel=r_associated | relid=0 | w=35
  1102. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable onset of seizures from neonatal to first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:variable onset of seizures from neonatal to first year of life | rel=r_associated | relid=0 | w=35
  1103. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable onset, from infancy to young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:variable onset, from infancy to young adulthood | rel=r_associated | relid=0 | w=35
  1104. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable phenotype within and between oi5 families
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype within and between oi5 families | rel=r_associated | relid=0 | w=35
  1105. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable presentation and manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:variable presentation and manifestations | rel=r_associated | relid=0 | w=35
  1106. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:variable progression
    n1=en:one patient reported (last curated november 2012) | n2=en:variable progression | rel=r_associated | relid=0 | w=35
  1107. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:venous malformations previously referred to as angiomas or hemangiomas
    n1=en:one patient reported (last curated november 2012) | n2=en:venous malformations previously referred to as angiomas or hemangiomas | rel=r_associated | relid=0 | w=35
  1108. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:virtually all patients with this condition are female
    n1=en:one patient reported (last curated november 2012) | n2=en:virtually all patients with this condition are female | rel=r_associated | relid=0 | w=35
  1109. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:visual impairment is present at birth and is progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:visual impairment is present at birth and is progressive | rel=r_associated | relid=0 | w=35
  1110. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:waddling gait, often presenting sign in second year
    n1=en:one patient reported (last curated november 2012) | n2=en:waddling gait, often presenting sign in second year | rel=r_associated | relid=0 | w=35
  1111. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:wasting of the hands is the first and most prominent manifestation
    n1=en:one patient reported (last curated november 2012) | n2=en:wasting of the hands is the first and most prominent manifestation | rel=r_associated | relid=0 | w=35
  1112. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:wheelchair-bound average 12 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:wheelchair-bound average 12 years after onset | rel=r_associated | relid=0 | w=35
  1113. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:women are more often affected
    n1=en:one patient reported (last curated november 2012) | n2=en:women are more often affected | rel=r_associated | relid=0 | w=35
  1114. en:one patient reported (last curated november 2012) -- r_associated #0: 35 / 0.814 -> en:worldwide frequency of 1 in 2,000,000
    n1=en:one patient reported (last curated november 2012) | n2=en:worldwide frequency of 1 in 2,000,000 | rel=r_associated | relid=0 | w=35
  1115. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:'variant' form of x-linked cgd retains residual cytochrome b(-245)
    n1=en:one patient reported (last curated november 2012) | n2=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | rel=r_associated | relid=0 | w=34
  1116. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:1 in 19,000 in japan
    n1=en:one patient reported (last curated november 2012) | n2=en:1 in 19,000 in japan | rel=r_associated | relid=0 | w=34
  1117. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:14 patients in 8 recessive kindreds reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:14 patients in 8 recessive kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=34
  1118. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:21 patients from 17 kindreds reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:21 patients from 17 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=34
  1119. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> 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:one patient reported (last curated november 2012) | 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=34
  1120. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)
    n1=en:one patient reported (last curated november 2012) | n2=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | rel=r_associated | relid=0 | w=34
  1121. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:50% of cases are de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:50% of cases are de novo | rel=r_associated | relid=0 | w=34
  1122. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis
    n1=en:one patient reported (last curated november 2012) | n2=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | rel=r_associated | relid=0 | w=34
  1123. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:about 50% of patients have intellectual disability and/or hydrocephalus
    n1=en:one patient reported (last curated november 2012) | n2=en:about 50% of patients have intellectual disability and/or hydrocephalus | rel=r_associated | relid=0 | w=34
  1124. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia
    n1=en:one patient reported (last curated november 2012) | n2=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | rel=r_associated | relid=0 | w=34
  1125. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1126. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:additional developmental abnormalities may be seen in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:additional developmental abnormalities may be seen in some patients | rel=r_associated | relid=0 | w=34
  1127. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:adult onset (before 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (before 50 years) | rel=r_associated | relid=0 | w=34
  1128. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:adult onset (mid-forties)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (mid-forties) | rel=r_associated | relid=0 | w=34
  1129. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:adult onset has been reported (age 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset has been reported (age 50 years) | rel=r_associated | relid=0 | w=34
  1130. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:adult onset may also occur
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset may also occur | rel=r_associated | relid=0 | w=34
  1131. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:adult onset of neurologic symptoms (range 30 to 46 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset of neurologic symptoms (range 30 to 46 years) | rel=r_associated | relid=0 | w=34
  1132. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:adult onset of neurologic symptoms has been reported in 1 family
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset of neurologic symptoms has been reported in 1 family | rel=r_associated | relid=0 | w=34
  1133. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:affected females are infertile
    n1=en:one patient reported (last curated november 2012) | n2=en:affected females are infertile | rel=r_associated | relid=0 | w=34
  1134. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:affected individuals are negative for dermatographism
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals are negative for dermatographism | rel=r_associated | relid=0 | w=34
  1135. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:affected individuals die soon after birth due to respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals die soon after birth due to respiratory failure | rel=r_associated | relid=0 | w=34
  1136. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:affected males have serotonin-related disorders such as migraine headaches and diabetes
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | rel=r_associated | relid=0 | w=34
  1137. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:age at first pregnancy:time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:age at first pregnancy:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=34
  1138. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:age at menopause:time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:age at menopause:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=34
  1139. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:age of onset 5 to 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 5 to 40 years | rel=r_associated | relid=0 | w=34
  1140. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:age of onset between 6 and 45 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset between 6 and 45 years of age | rel=r_associated | relid=0 | w=34
  1141. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:age of onset varies ranging from 3 weeks to 22 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=34
  1142. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:age-related clinical course
    n1=en:one patient reported (last curated november 2012) | n2=en:age-related clinical course | rel=r_associated | relid=0 | w=34
  1143. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:all cases from a remote village, sabinas, in northern mexico
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases from a remote village, sabinas, in northern mexico | rel=r_associated | relid=0 | w=34
  1144. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:all cases occur in a jewish religious isolate originally from cochin, india
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases occur in a jewish religious isolate originally from cochin, india | rel=r_associated | relid=0 | w=34
  1145. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement
    n1=en:one patient reported (last curated november 2012) | 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=34
  1146. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to cmt4a (214400)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to cmt4a (214400) | rel=r_associated | relid=0 | w=34
  1147. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | rel=r_associated | relid=0 | w=34
  1148. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to nf1
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to nf1 | rel=r_associated | relid=0 | w=34
  1149. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=34
  1150. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to paramyotonia congenita (168300)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to paramyotonia congenita (168300) | rel=r_associated | relid=0 | w=34
  1151. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to primary erythermalgia (133020)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to primary erythermalgia (133020) | rel=r_associated | relid=0 | w=34
  1152. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic disorders with clinical overlap include dss and cmt1b (118200)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | rel=r_associated | relid=0 | w=34
  1153. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> 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:one patient reported (last curated november 2012) | 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=34
  1154. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> 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:one patient reported (last curated november 2012) | 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=34
  1155. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to leopard syndrome (151100)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to leopard syndrome (151100) | rel=r_associated | relid=0 | w=34
  1156. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | rel=r_associated | relid=0 | w=34
  1157. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)
    n1=en:one patient reported (last curated november 2012) | 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=34
  1158. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to mucolipidosis ii (252500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to mucolipidosis ii (252500) | rel=r_associated | relid=0 | w=34
  1159. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to nephronophthisis 4 (606966)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to nephronophthisis 4 (606966) | rel=r_associated | relid=0 | w=34
  1160. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | rel=r_associated | relid=0 | w=34
  1161. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to rett syndrome (312750)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to rett syndrome (312750) | rel=r_associated | relid=0 | w=34
  1162. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to sialuria, finnish type (604369)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to sialuria, finnish type (604369) | rel=r_associated | relid=0 | w=34
  1163. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic to tyrosinemia, type iii (276720)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to tyrosinemia, type iii (276720) | rel=r_associated | relid=0 | w=34
  1164. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | rel=r_associated | relid=0 | w=34
  1165. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:anemia, diabetes, and deafness often show onset at different ages
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia, diabetes, and deafness often show onset at different ages | rel=r_associated | relid=0 | w=34
  1166. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:approximately 10% of als cases are familial
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 10% of als cases are familial | rel=r_associated | relid=0 | w=34
  1167. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:approximately 35% of patients die during the first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 35% of patients die during the first 2 years of life | rel=r_associated | relid=0 | w=34
  1168. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:approximately 80% of cs patients have pten mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 80% of cs patients have pten mutations | rel=r_associated | relid=0 | w=34
  1169. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:associated with increased frequency of autoimmune diseases
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=34
  1170. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1171. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> 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:one patient reported (last curated november 2012) | 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=34
  1172. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:asymptomatic skin lesions begin on neck in third decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:asymptomatic skin lesions begin on neck in third decade of life | rel=r_associated | relid=0 | w=34
  1173. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:attacks are not responsive to acetazolamide
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks are not responsive to acetazolamide | rel=r_associated | relid=0 | w=34
  1174. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:atypical hemolytic-uremic syndrome shows onset in first 12 months
    n1=en:one patient reported (last curated november 2012) | n2=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | rel=r_associated | relid=0 | w=34
  1175. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:autosomal dominant with complete penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant with complete penetrance | rel=r_associated | relid=0 | w=34
  1176. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive disorder tends to be more severe
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=34
  1177. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive form (240220)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive form (240220) | rel=r_associated | relid=0 | w=34
  1178. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance has been reported in 1 case
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has been reported in 1 case | rel=r_associated | relid=0 | w=34
  1179. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance has been suggested
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has been suggested | rel=r_associated | relid=0 | w=34
  1180. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | rel=r_associated | relid=0 | w=34
  1181. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on 2 cousins in a consanguineous family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 cousins in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=34
  1182. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on 3 patients from 2 families (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 3 patients from 2 families (last curated january 2015) | rel=r_associated | relid=0 | w=34
  1183. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on detailed clinical description of 1 family
    n1=en:one patient reported (last curated november 2012) | n2=en:based on detailed clinical description of 1 family | rel=r_associated | relid=0 | w=34
  1184. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on four patients in a four generation family
    n1=en:one patient reported (last curated november 2012) | n2=en:based on four patients in a four generation family | rel=r_associated | relid=0 | w=34
  1185. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1186. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 siblings and 1 patient (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 siblings and 1 patient (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1187. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 unrelated patients (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 unrelated patients (last curated may 2015) | rel=r_associated | relid=0 | w=34
  1188. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on report of 3 patients from 2 families (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 3 patients from 2 families (last curated march 2016) | rel=r_associated | relid=0 | w=34
  1189. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:based on reports of one family and one patient (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on reports of one family and one patient (last curated december 2015) | rel=r_associated | relid=0 | w=34
  1190. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:because fetal chrng (100730) exhibits phenotypic rescue
    n1=en:one patient reported (last curated november 2012) | n2=en:because fetal chrng (100730) exhibits phenotypic rescue | rel=r_associated | relid=0 | w=34
  1191. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:begins as focal dystonia, later becomes segmental or generalized
    n1=en:one patient reported (last curated november 2012) | n2=en:begins as focal dystonia, later becomes segmental or generalized | rel=r_associated | relid=0 | w=34
  1192. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:bilateral involvement in 10% of cases
    n1=en:one patient reported (last curated november 2012) | n2=en:bilateral involvement in 10% of cases | rel=r_associated | relid=0 | w=34
  1193. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:bleeding is usually delayed-onset after challenge
    n1=en:one patient reported (last curated november 2012) | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=34
  1194. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:blistering may worsen during the summer
    n1=en:one patient reported (last curated november 2012) | n2=en:blistering may worsen during the summer | rel=r_associated | relid=0 | w=34
  1195. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:blood glucose monitor with integrated lancing/blood sample
    n1=en:one patient reported (last curated november 2012) | n2=en:blood glucose monitor with integrated lancing/blood sample | rel=r_associated | relid=0 | w=34
  1196. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:both homozygous and heterozygous edn3 mutations have been found
    n1=en:one patient reported (last curated november 2012) | n2=en:both homozygous and heterozygous edn3 mutations have been found | rel=r_associated | relid=0 | w=34
  1197. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:both homozygous and heterozygous ednrb mutations have been found
    n1=en:one patient reported (last curated november 2012) | n2=en:both homozygous and heterozygous ednrb mutations have been found | rel=r_associated | relid=0 | w=34
  1198. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:boys are more often affected than girls (3:2)
    n1=en:one patient reported (last curated november 2012) | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=34
  1199. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:cancer onset usually in mid-adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:cancer onset usually in mid-adulthood | rel=r_associated | relid=0 | w=34
  1200. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:candidiasis is restricted to nails of hands and feet
    n1=en:one patient reported (last curated november 2012) | n2=en:candidiasis is restricted to nails of hands and feet | rel=r_associated | relid=0 | w=34
  1201. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:cardiac arrest and sudden death may occur, even in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiac arrest and sudden death may occur, even in early childhood | rel=r_associated | relid=0 | w=34
  1202. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:carrier females show no clinical phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females show no clinical phenotype | rel=r_associated | relid=0 | w=34
  1203. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:carrier mothers have urine biochemistry profiles identical to those of their sons
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier mothers have urine biochemistry profiles identical to those of their sons | rel=r_associated | relid=0 | w=34
  1204. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:caused by constitutive activation of the avpr2 receptor
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by constitutive activation of the avpr2 receptor | rel=r_associated | relid=0 | w=34
  1205. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:childhood onset
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood onset | rel=r_associated | relid=0 | w=34
  1206. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:childhood onset rarely occurs
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood onset rarely occurs | rel=r_associated | relid=0 | w=34
  1207. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:childhood or adolescent onset (usually less than 25 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=34
  1208. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:chromosomal hypersensitivity to ionizing radiation and alkylating agents
    n1=en:one patient reported (last curated november 2012) | n2=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | rel=r_associated | relid=0 | w=34
  1209. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:clinical features other than liver findings may vary
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical features other than liver findings may vary | rel=r_associated | relid=0 | w=34
  1210. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)
    n1=en:one patient reported (last curated november 2012) | 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=34
  1211. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | rel=r_associated | relid=0 | w=34
  1212. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype
    n1=en:one patient reported (last curated november 2012) | 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=34
  1213. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:clinical variability seen in waardenburg syndrome type 1
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical variability seen in waardenburg syndrome type 1 | rel=r_associated | relid=0 | w=34
  1214. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1215. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:complementation group b (represented by single atypical patient)
    n1=en:one patient reported (last curated november 2012) | n2=en:complementation group b (represented by single atypical patient) | rel=r_associated | relid=0 | w=34
  1216. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:complete manifestation in males
    n1=en:one patient reported (last curated november 2012) | n2=en:complete manifestation in males | rel=r_associated | relid=0 | w=34
  1217. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:complete recovery during intervals
    n1=en:one patient reported (last curated november 2012) | n2=en:complete recovery during intervals | rel=r_associated | relid=0 | w=34
  1218. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:comprises several subtypes, including
    n1=en:one patient reported (last curated november 2012) | n2=en:comprises several subtypes, including | rel=r_associated | relid=0 | w=34
  1219. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:considered a myeloproliferative disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:considered a myeloproliferative disorder | rel=r_associated | relid=0 | w=34
  1220. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> 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:one patient reported (last curated november 2012) | 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=34
  1221. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:de novo mutation identified in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutation identified in some patients | rel=r_associated | relid=0 | w=34
  1222. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death about 20 years after symptom onset
    n1=en:one patient reported (last curated november 2012) | n2=en:death about 20 years after symptom onset | rel=r_associated | relid=0 | w=34
  1223. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death at 10 to 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death at 10 to 15 years | rel=r_associated | relid=0 | w=34
  1224. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death before age 15 in iia
    n1=en:one patient reported (last curated november 2012) | n2=en:death before age 15 in iia | rel=r_associated | relid=0 | w=34
  1225. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death due to respiratory insufficiency within minutes to hours after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:death due to respiratory insufficiency within minutes to hours after birth | rel=r_associated | relid=0 | w=34
  1226. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in fourth to fifth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=34
  1227. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in infancy common for patients with the classic neonatal form
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy common for patients with the classic neonatal form | rel=r_associated | relid=0 | w=34
  1228. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in infancy, usually from sepsis, dehydration, or acidosis
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy, usually from sepsis, dehydration, or acidosis | rel=r_associated | relid=0 | w=34
  1229. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in the fifth or sixth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death in the fifth or sixth decade | rel=r_associated | relid=0 | w=34
  1230. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in the first decade, usually from liver failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death in the first decade, usually from liver failure | rel=r_associated | relid=0 | w=34
  1231. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in the mid-twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:death in the mid-twenties | rel=r_associated | relid=0 | w=34
  1232. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in utero or early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death in utero or early infancy | rel=r_associated | relid=0 | w=34
  1233. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death in utero or in early infancy is common
    n1=en:one patient reported (last curated november 2012) | n2=en:death in utero or in early infancy is common | rel=r_associated | relid=0 | w=34
  1234. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death may occur in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=34
  1235. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death may occur in the first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death may occur in the first decade | rel=r_associated | relid=0 | w=34
  1236. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death occurs early in neonatal period due to respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death occurs early in neonatal period due to respiratory failure | rel=r_associated | relid=0 | w=34
  1237. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death often occurs in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=34
  1238. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death often secondary to pneumonia or congestive heart failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death often secondary to pneumonia or congestive heart failure | rel=r_associated | relid=0 | w=34
  1239. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death usually due to renal failure by average age 3
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually due to renal failure by average age 3 | rel=r_associated | relid=0 | w=34
  1240. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death usually due to respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually due to respiratory failure | rel=r_associated | relid=0 | w=34
  1241. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death usually in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=34
  1242. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death usually in the perinatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in the perinatal period | rel=r_associated | relid=0 | w=34
  1243. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death usually occurs in infancy or childhood if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs in infancy or childhood if untreated | rel=r_associated | relid=0 | w=34
  1244. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death usually within first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually within first 2 years of life | rel=r_associated | relid=0 | w=34
  1245. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death usually within first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually within first year of life | rel=r_associated | relid=0 | w=34
  1246. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death within 3 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death within 3 months of life | rel=r_associated | relid=0 | w=34
  1247. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:death within several months if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:death within several months if untreated | rel=r_associated | relid=0 | w=34
  1248. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:decreased bilirubin concentration with phenobarbital administration
    n1=en:one patient reported (last curated november 2012) | n2=en:decreased bilirubin concentration with phenobarbital administration | rel=r_associated | relid=0 | w=34
  1249. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:decreased fertility
    n1=en:one patient reported (last curated november 2012) | n2=en:decreased fertility | rel=r_associated | relid=0 | w=34
  1250. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:deletions in naip gene (600355) found in 18% of sma2 patients
    n1=en:one patient reported (last curated november 2012) | n2=en:deletions in naip gene (600355) found in 18% of sma2 patients | rel=r_associated | relid=0 | w=34
  1251. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:described in 6 japanese families
    n1=en:one patient reported (last curated november 2012) | n2=en:described in 6 japanese families | rel=r_associated | relid=0 | w=34
  1252. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:described in families from galicia, spain
    n1=en:one patient reported (last curated november 2012) | n2=en:described in families from galicia, spain | rel=r_associated | relid=0 | w=34
  1253. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:despite voluminous steatorrhea, patients' growth and overall state of health is good
    n1=en:one patient reported (last curated november 2012) | n2=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | rel=r_associated | relid=0 | w=34
  1254. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:diabetes diagnosed in second or third decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:diabetes diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=34
  1255. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:diabetes mellitus develops in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:diabetes mellitus develops in adolescence | rel=r_associated | relid=0 | w=34
  1256. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:disease exacerbation during summer due to heat
    n1=en:one patient reported (last curated november 2012) | n2=en:disease exacerbation during summer due to heat | rel=r_associated | relid=0 | w=34
  1257. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)
    n1=en:one patient reported (last curated november 2012) | n2=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | rel=r_associated | relid=0 | w=34
  1258. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:distinct disorder from autosomal dominant hyper ige syndrome (147060)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | rel=r_associated | relid=0 | w=34
  1259. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:distinct from pseudopili annulati (613241)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=34
  1260. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:diurnal fluctuation of symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:diurnal fluctuation of symptoms | rel=r_associated | relid=0 | w=34
  1261. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:diurnal fluctuation, more apparent in earlier years, later subsides
    n1=en:one patient reported (last curated november 2012) | n2=en:diurnal fluctuation, more apparent in earlier years, later subsides | rel=r_associated | relid=0 | w=34
  1262. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:does not result in renal failure
    n1=en:one patient reported (last curated november 2012) | n2=en:does not result in renal failure | rel=r_associated | relid=0 | w=34
  1263. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:duane anomaly is not always present
    n1=en:one patient reported (last curated november 2012) | n2=en:duane anomaly is not always present | rel=r_associated | relid=0 | w=34
  1264. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:dyskinesia may be precipitated by alcohol, stress, or fatigue
    n1=en:one patient reported (last curated november 2012) | n2=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | rel=r_associated | relid=0 | w=34
  1265. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | rel=r_associated | relid=0 | w=34
  1266. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:dysmorphic features are mild or variable
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic features are mild or variable | rel=r_associated | relid=0 | w=34
  1267. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:earlier onset is associated with more aggressive disease course
    n1=en:one patient reported (last curated november 2012) | n2=en:earlier onset is associated with more aggressive disease course | rel=r_associated | relid=0 | w=34
  1268. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early death (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:early death (in some patients) | rel=r_associated | relid=0 | w=34
  1269. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early death (usually by 3 years of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=34
  1270. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early death due to infection
    n1=en:one patient reported (last curated november 2012) | n2=en:early death due to infection | rel=r_associated | relid=0 | w=34
  1271. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early death from respiratory failure may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:early death from respiratory failure may occur | rel=r_associated | relid=0 | w=34
  1272. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early death in the first few weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:early death in the first few weeks of life | rel=r_associated | relid=0 | w=34
  1273. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early death often due to respiratory complications
    n1=en:one patient reported (last curated november 2012) | n2=en:early death often due to respiratory complications | rel=r_associated | relid=0 | w=34
  1274. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | rel=r_associated | relid=0 | w=34
  1275. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:early-onset
    n1=en:one patient reported (last curated november 2012) | n2=en:early-onset | rel=r_associated | relid=0 | w=34
  1276. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:echocardiogram and ophthalmologic examination normal
    n1=en:one patient reported (last curated november 2012) | n2=en:echocardiogram and ophthalmologic examination normal | rel=r_associated | relid=0 | w=34
  1277. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:endocrine and neurologic defects may become apparent later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:endocrine and neurologic defects may become apparent later in life | rel=r_associated | relid=0 | w=34
  1278. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:endocrine defects evolve over time
    n1=en:one patient reported (last curated november 2012) | n2=en:endocrine defects evolve over time | rel=r_associated | relid=0 | w=34
  1279. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:episode, syncopal
    n1=en:one patient reported (last curated november 2012) | n2=en:episode, syncopal | rel=r_associated | relid=0 | w=34
  1280. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:episodes last about 1.5 hours
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes last about 1.5 hours | rel=r_associated | relid=0 | w=34
  1281. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:estimated carrier frequency 1/100
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated carrier frequency 1/100 | rel=r_associated | relid=0 | w=34
  1282. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:estimated mutation carrier rate of 1 in 350
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated mutation carrier rate of 1 in 350 | rel=r_associated | relid=0 | w=34
  1283. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:extreme clinical heterogeneity
    n1=en:one patient reported (last curated november 2012) | n2=en:extreme clinical heterogeneity | rel=r_associated | relid=0 | w=34
  1284. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:extreme sensitivity to chemotherapy
    n1=en:one patient reported (last curated november 2012) | n2=en:extreme sensitivity to chemotherapy | rel=r_associated | relid=0 | w=34
  1285. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:extreme variability in severity of features
    n1=en:one patient reported (last curated november 2012) | n2=en:extreme variability in severity of features | rel=r_associated | relid=0 | w=34
  1286. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:familial (10%) and isolated cases
    n1=en:one patient reported (last curated november 2012) | n2=en:familial (10%) and isolated cases | rel=r_associated | relid=0 | w=34
  1287. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=34
  1288. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:favorable response to clonazepam
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to clonazepam | rel=r_associated | relid=0 | w=34
  1289. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:favorable response to hydroxychloroquine treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to hydroxychloroquine treatment | rel=r_associated | relid=0 | w=34
  1290. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:favorable response to lenalidomide treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to lenalidomide treatment | rel=r_associated | relid=0 | w=34
  1291. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:features intermediate between demyelinating cmt and axonal cmt
    n1=en:one patient reported (last curated november 2012) | n2=en:features intermediate between demyelinating cmt and axonal cmt | rel=r_associated | relid=0 | w=34
  1292. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:feeding difficulties, including aspiration, ameliorate with age
    n1=en:one patient reported (last curated november 2012) | n2=en:feeding difficulties, including aspiration, ameliorate with age | rel=r_associated | relid=0 | w=34
  1293. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=34
  1294. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:female carriers may have short stature and premature ovarian failure
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have short stature and premature ovarian failure | rel=r_associated | relid=0 | w=34
  1295. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:female to male ratio 5:1
    n1=en:one patient reported (last curated november 2012) | n2=en:female to male ratio 5:1 | rel=r_associated | relid=0 | w=34
  1296. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:fifty-percent of individuals responsive to pyridoxine (vitamin b6)
    n1=en:one patient reported (last curated november 2012) | n2=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | rel=r_associated | relid=0 | w=34
  1297. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:fishy body odor
    n1=en:one patient reported (last curated november 2012) | n2=en:fishy body odor | rel=r_associated | relid=0 | w=34
  1298. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:for similar autosomal dominant form, see 162350
    n1=en:one patient reported (last curated november 2012) | n2=en:for similar autosomal dominant form, see 162350 | rel=r_associated | relid=0 | w=34
  1299. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:founder effect in turkish families
    n1=en:one patient reported (last curated november 2012) | n2=en:founder effect in turkish families | rel=r_associated | relid=0 | w=34
  1300. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)
    n1=en:one patient reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | rel=r_associated | relid=0 | w=34
  1301. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:four families have been reported (last curated june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:four families have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=34
  1302. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:four patients from 3 families have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1303. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:four unrelated families of caucasian european descent have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1304. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | rel=r_associated | relid=0 | w=34
  1305. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:four unrelated patients have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=34
  1306. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | rel=r_associated | relid=0 | w=34
  1307. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:frequency between 1 in 58,000 to 1 in 1,000,000
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency between 1 in 58,000 to 1 in 1,000,000 | rel=r_associated | relid=0 | w=34
  1308. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:frequency increases with advancing age
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency increases with advancing age | rel=r_associated | relid=0 | w=34
  1309. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:frequently occurs in navajo children, especially in western reservations
    n1=en:one patient reported (last curated november 2012) | n2=en:frequently occurs in navajo children, especially in western reservations | rel=r_associated | relid=0 | w=34
  1310. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | rel=r_associated | relid=0 | w=34
  1311. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:gene frequency in northwest puerto rico 1 in 18
    n1=en:one patient reported (last curated november 2012) | n2=en:gene frequency in northwest puerto rico 1 in 18 | rel=r_associated | relid=0 | w=34
  1312. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364)
    n1=en:one patient reported (last curated november 2012) | n2=en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) | rel=r_associated | relid=0 | w=34
  1313. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic anticipation occurs
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic anticipation occurs | rel=r_associated | relid=0 | w=34
  1314. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 191100)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 191100) | rel=r_associated | relid=0 | w=34
  1315. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 209850)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 209850) | rel=r_associated | relid=0 | w=34
  1316. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 609192)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=34
  1317. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see bfic2, 605751)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see bfic2, 605751) | rel=r_associated | relid=0 | w=34
  1318. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see cftd1, 255310)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cftd1, 255310) | rel=r_associated | relid=0 | w=34
  1319. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | rel=r_associated | relid=0 | w=34
  1320. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see pfic1, 211600)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see pfic1, 211600) | rel=r_associated | relid=0 | w=34
  1321. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see pfm1, 168500)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see pfm1, 168500) | rel=r_associated | relid=0 | w=34
  1322. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see, e.g., 600795, 105550)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., 600795, 105550) | rel=r_associated | relid=0 | w=34
  1323. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see, e.g., atfb3, 607554)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., atfb3, 607554) | rel=r_associated | relid=0 | w=34
  1324. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity of waardenburg syndrome type 2
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity of waardenburg syndrome type 2 | rel=r_associated | relid=0 | w=34
  1325. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see lgmd2a (253600)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see lgmd2a (253600) | rel=r_associated | relid=0 | w=34
  1326. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | rel=r_associated | relid=0 | w=34
  1327. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:glucocorticoid deficiency occurs in mid-childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:glucocorticoid deficiency occurs in mid-childhood | rel=r_associated | relid=0 | w=34
  1328. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:gms is goniodysgenesis, mental deficiency, and short stature
    n1=en:one patient reported (last curated november 2012) | n2=en:gms is goniodysgenesis, mental deficiency, and short stature | rel=r_associated | relid=0 | w=34
  1329. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:good response to fibrinolytic inhibitors
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to fibrinolytic inhibitors | rel=r_associated | relid=0 | w=34
  1330. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | rel=r_associated | relid=0 | w=34
  1331. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=34
  1332. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:group b patients die by 3 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:group b patients die by 3 months of age | rel=r_associated | relid=0 | w=34
  1333. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)
    n1=en:one patient reported (last curated november 2012) | n2=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | rel=r_associated | relid=0 | w=34
  1334. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | rel=r_associated | relid=0 | w=34
  1335. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:headache duration 4-72 hours
    n1=en:one patient reported (last curated november 2012) | n2=en:headache duration 4-72 hours | rel=r_associated | relid=0 | w=34
  1336. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:hearing loss is usually severe by age 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss is usually severe by age 20 years | rel=r_associated | relid=0 | w=34
  1337. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:hearing loss occurs later if at all
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=34
  1338. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:hearing loss was diagnosed between 3 months to 1 year of age
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss was diagnosed between 3 months to 1 year of age | rel=r_associated | relid=0 | w=34
  1339. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=34
  1340. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=34
  1341. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygotes exhibit blue sclerae and soft velvety skin
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes exhibit blue sclerae and soft velvety skin | rel=r_associated | relid=0 | w=34
  1342. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygotes have half-normal levels of apob-containing lipoproteins
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes have half-normal levels of apob-containing lipoproteins | rel=r_associated | relid=0 | w=34
  1343. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400)
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | rel=r_associated | relid=0 | w=34
  1344. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygous carriers have decreased blood pressure compared to the general population
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous carriers have decreased blood pressure compared to the general population | rel=r_associated | relid=0 | w=34
  1345. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | rel=r_associated | relid=0 | w=34
  1346. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygous mutation carriers may have late-onset cardiac arrhythmias
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | rel=r_associated | relid=0 | w=34
  1347. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygous mutation carriers may have late-onset of mild symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=34
  1348. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygous mutation carriers may show mild symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous mutation carriers may show mild symptoms | rel=r_associated | relid=0 | w=34
  1349. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:heterozygous mutations reported, see 606609.0006 and 606609.0007
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | rel=r_associated | relid=0 | w=34
  1350. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:high disease prevalence among french-canadians
    n1=en:one patient reported (last curated november 2012) | n2=en:high disease prevalence among french-canadians | rel=r_associated | relid=0 | w=34
  1351. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:high frequency hearing loss progresses to include all frequencies
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=34
  1352. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:high frequency in tibetan individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in tibetan individuals | rel=r_associated | relid=0 | w=34
  1353. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:high incidence among ashkenazi jews
    n1=en:one patient reported (last curated november 2012) | n2=en:high incidence among ashkenazi jews | rel=r_associated | relid=0 | w=34
  1354. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe
    n1=en:one patient reported (last curated november 2012) | 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=34
  1355. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:highly variable dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable dysmorphic features | rel=r_associated | relid=0 | w=34
  1356. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:highly variable phenotype with respect to facial dysmorphism and neurologic features
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=34
  1357. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination
    n1=en:one patient reported (last curated november 2012) | n2=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | rel=r_associated | relid=0 | w=34
  1358. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:hyperkeratosis triggered by chronic mechanical irritation
    n1=en:one patient reported (last curated november 2012) | n2=en:hyperkeratosis triggered by chronic mechanical irritation | rel=r_associated | relid=0 | w=34
  1359. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:hyponatremia usually associated with gastroenteritis
    n1=en:one patient reported (last curated november 2012) | n2=en:hyponatremia usually associated with gastroenteritis | rel=r_associated | relid=0 | w=34
  1360. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400)
    n1=en:one patient reported (last curated november 2012) | n2=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | rel=r_associated | relid=0 | w=34
  1361. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns
    n1=en:one patient reported (last curated november 2012) | n2=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | rel=r_associated | relid=0 | w=34
  1362. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence 1 in 8,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=34
  1363. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence 1-1.5/1,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=34
  1364. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence 2-5% of north american children
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 2-5% of north american children | rel=r_associated | relid=0 | w=34
  1365. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence approximately 2-3/10,000 newborns
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence approximately 2-3/10,000 newborns | rel=r_associated | relid=0 | w=34
  1366. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 100 in some local nordic areas
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 100 in some local nordic areas | rel=r_associated | relid=0 | w=34
  1367. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 100,000 to 125,000 at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=34
  1368. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 25,000 livebirths
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 25,000 livebirths | rel=r_associated | relid=0 | w=34
  1369. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 3,500 boys
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=34
  1370. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 3,900 births among jewish persons
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 3,900 births among jewish persons | rel=r_associated | relid=0 | w=34
  1371. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 39,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=34
  1372. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 480 among old order amish
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 480 among old order amish | rel=r_associated | relid=0 | w=34
  1373. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 per 10,000 births in japan
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 per 10,000 births in japan | rel=r_associated | relid=0 | w=34
  1374. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence of 1% in yarmouth county, nova scotia
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=34
  1375. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence ranges from 1 in 40,000 to 1 in 350,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=34
  1376. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incidence, 1 in 650-1000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence, 1 in 650-1000 live births | rel=r_associated | relid=0 | w=34
  1377. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance (50%)
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=34
  1378. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance in carrier females
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=34
  1379. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:increased aneuploidy in offspring
    n1=en:one patient reported (last curated november 2012) | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=34
  1380. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:increased frequency among individuals of ashkenazi jewish descent
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency among individuals of ashkenazi jewish descent | rel=r_associated | relid=0 | w=34
  1381. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:increased frequency in ashkenazi jewish population and in finland
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in ashkenazi jewish population and in finland | rel=r_associated | relid=0 | w=34
  1382. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:increased prevalence in northern finland (7.3/100,000)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence in northern finland (7.3/100,000) | rel=r_associated | relid=0 | w=34
  1383. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:increased prevalence in the french-canadian population
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence in the french-canadian population | rel=r_associated | relid=0 | w=34
  1384. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:increased risk of bilateral breast cancer
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of bilateral breast cancer | rel=r_associated | relid=0 | w=34
  1385. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:increased susceptibility to neisseria infections
    n1=en:one patient reported (last curated november 2012) | n2=en:increased susceptibility to neisseria infections | rel=r_associated | relid=0 | w=34
  1386. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:individuals with the pcs trait are phenotypically normal
    n1=en:one patient reported (last curated november 2012) | n2=en:individuals with the pcs trait are phenotypically normal | rel=r_associated | relid=0 | w=34
  1387. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:infantile form usually leads to death by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:infantile form usually leads to death by age 2 years | rel=r_associated | relid=0 | w=34
  1388. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression
    n1=en:one patient reported (last curated november 2012) | n2=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | rel=r_associated | relid=0 | w=34
  1389. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:intracellular accumulation of material can occur in neuronal and nonneuronal cells
    n1=en:one patient reported (last curated november 2012) | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=34
  1390. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | rel=r_associated | relid=0 | w=34
  1391. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:juvenile rigid early-onset form more often paternally inherited
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=34
  1392. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france
    n1=en:one patient reported (last curated november 2012) | 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=34
  1393. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:late-adult onset (age 50 or later)
    n1=en:one patient reported (last curated november 2012) | n2=en:late-adult onset (age 50 or later) | rel=r_associated | relid=0 | w=34
  1394. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:late-adult onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=34
  1395. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:later onset may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset may occur | rel=r_associated | relid=0 | w=34
  1396. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:later onset of neurologic features
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=34
  1397. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:left sided involvement occurs more frequently
    n1=en:one patient reported (last curated november 2012) | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=34
  1398. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:lesions appear in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions appear in infancy or early childhood | rel=r_associated | relid=0 | w=34
  1399. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:lesions continue to grow until epiphyseal plate closure
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=34
  1400. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:lifelong occurrence
    n1=en:one patient reported (last curated november 2012) | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=34
  1401. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
    n1=en:one patient reported (last curated november 2012) | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=34
  1402. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:limited clinical information provided
    n1=en:one patient reported (last curated november 2012) | n2=en:limited clinical information provided | rel=r_associated | relid=0 | w=34
  1403. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:linked to 10q24 trisomy
    n1=en:one patient reported (last curated november 2012) | n2=en:linked to 10q24 trisomy | rel=r_associated | relid=0 | w=34
  1404. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:liver size returns to normal after 3 months to 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=34
  1405. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:lymphedema resolves by age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:lymphedema resolves by age 3 years | rel=r_associated | relid=0 | w=34
  1406. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:macular degeneration only occurs in some patients at very late age (over 70)
    n1=en:one patient reported (last curated november 2012) | n2=en:macular degeneration only occurs in some patients at very late age (over 70) | rel=r_associated | relid=0 | w=34
  1407. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:majority of cases occur in brazilian population
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases occur in brazilian population | rel=r_associated | relid=0 | w=34
  1408. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:majority of individuals are healthy
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of individuals are healthy | rel=r_associated | relid=0 | w=34
  1409. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:majority of wws patients die within the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of wws patients die within the first year of life | rel=r_associated | relid=0 | w=34
  1410. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:male to female ratio 7:1
    n1=en:one patient reported (last curated november 2012) | n2=en:male to female ratio 7:1 | rel=r_associated | relid=0 | w=34
  1411. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:males more affected than females (2 to 2.5:1)
    n1=en:one patient reported (last curated november 2012) | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=34
  1412. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:many patients become wheelchair-bound later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients become wheelchair-bound later in life | rel=r_associated | relid=0 | w=34
  1413. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:marked intrafamilial variability of clinical features
    n1=en:one patient reported (last curated november 2012) | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=34
  1414. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:marked variability in severity of the skin lesions
    n1=en:one patient reported (last curated november 2012) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34
  1415. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:maternal imprinting
    n1=en:one patient reported (last curated november 2012) | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=34
  1416. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:may be lethal in infancy if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:may be lethal in infancy if untreated | rel=r_associated | relid=0 | w=34
  1417. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders
    n1=en:one patient reported (last curated november 2012) | n2=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | rel=r_associated | relid=0 | w=34
  1418. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777)
    n1=en:one patient reported (last curated november 2012) | 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=34
  1419. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:may be seen with other forms of cancer in a family
    n1=en:one patient reported (last curated november 2012) | n2=en:may be seen with other forms of cancer in a family | rel=r_associated | relid=0 | w=34
  1420. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:may be x-linked
    n1=en:one patient reported (last curated november 2012) | n2=en:may be x-linked | rel=r_associated | relid=0 | w=34
  1421. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:may present in infancy with episodes of severe metabolic decompensation
    n1=en:one patient reported (last curated november 2012) | n2=en:may present in infancy with episodes of severe metabolic decompensation | rel=r_associated | relid=0 | w=34
  1422. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:may show good response to levodopa
    n1=en:one patient reported (last curated november 2012) | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=34
  1423. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mean age at onset 27 years (range 9 to 42)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 27 years (range 9 to 42) | rel=r_associated | relid=0 | w=34
  1424. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mean age at onset of bone disease is 40 years (range 23-65)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset of bone disease is 40 years (range 23-65) | rel=r_associated | relid=0 | w=34
  1425. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mean age at onset of proximal muscle weakness, 31 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=34
  1426. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mean age of diagnosis 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=34
  1427. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mean age of onset 21 years (range 14-35 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 21 years (range 14-35 years) | rel=r_associated | relid=0 | w=34
  1428. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:median age at diagnosis 7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median age at diagnosis 7 years | rel=r_associated | relid=0 | w=34
  1429. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:melnick-needles syndrome (mns, 309350) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | rel=r_associated | relid=0 | w=34
  1430. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis
    n1=en:one patient reported (last curated november 2012) | 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=34
  1431. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mild disease course
    n1=en:one patient reported (last curated november 2012) | n2=en:mild disease course | rel=r_associated | relid=0 | w=34
  1432. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mild expression in heterozygous carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:mild expression in heterozygous carriers | rel=r_associated | relid=0 | w=34
  1433. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mild features such as digital clubbing may be apparent in older heterozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:mild features such as digital clubbing may be apparent in older heterozygotes | rel=r_associated | relid=0 | w=34
  1434. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mild involvement of face and arms
    n1=en:one patient reported (last curated november 2012) | n2=en:mild involvement of face and arms | rel=r_associated | relid=0 | w=34
  1435. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mild manifestations in carrier females (cleft lip, cleft tongue)
    n1=en:one patient reported (last curated november 2012) | n2=en:mild manifestations in carrier females (cleft lip, cleft tongue) | rel=r_associated | relid=0 | w=34
  1436. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mild symptoms may occur in teenage years
    n1=en:one patient reported (last curated november 2012) | n2=en:mild symptoms may occur in teenage years | rel=r_associated | relid=0 | w=34
  1437. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:milder form with onset in childhood, absence seizures, and learning difficulties
    n1=en:one patient reported (last curated november 2012) | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=34
  1438. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mode of inheritance is unclear
    n1=en:one patient reported (last curated november 2012) | n2=en:mode of inheritance is unclear | rel=r_associated | relid=0 | w=34
  1439. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:more commonly observed in women
    n1=en:one patient reported (last curated november 2012) | n2=en:more commonly observed in women | rel=r_associated | relid=0 | w=34
  1440. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:moroccan jewish and ashkenazi jewish families have been described
    n1=en:one patient reported (last curated november 2012) | n2=en:moroccan jewish and ashkenazi jewish families have been described | rel=r_associated | relid=0 | w=34
  1441. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most affected males die of respiratory failure within the first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most affected males die of respiratory failure within the first months of life | rel=r_associated | relid=0 | w=34
  1442. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004)
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | rel=r_associated | relid=0 | w=34
  1443. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most common episodic ataxia syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:most common episodic ataxia syndrome | rel=r_associated | relid=0 | w=34
  1444. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most common subtype of frontotemporal dementia (600274)
    n1=en:one patient reported (last curated november 2012) | n2=en:most common subtype of frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=34
  1445. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most patients die from heart failure
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die from heart failure | rel=r_associated | relid=0 | w=34
  1446. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most patients die in the first days of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die in the first days of life | rel=r_associated | relid=0 | w=34
  1447. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most patients die in the first months or years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die in the first months or years of life | rel=r_associated | relid=0 | w=34
  1448. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most patients die of hepatic failure by 9 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die of hepatic failure by 9 months of age | rel=r_associated | relid=0 | w=34
  1449. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes
    n1=en:one patient reported (last curated november 2012) | 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=34
  1450. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules
    n1=en:one patient reported (last curated november 2012) | 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=34
  1451. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:most patients have severe streptococcus pneumoniae infections
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients have severe streptococcus pneumoniae infections | rel=r_associated | relid=0 | w=34
  1452. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:motor delay
    n1=en:one patient reported (last curated november 2012) | n2=en:motor delay | rel=r_associated | relid=0 | w=34
  1453. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:motor symptoms are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:motor symptoms are variable | rel=r_associated | relid=0 | w=34
  1454. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:multiorgan failure may result from hs
    n1=en:one patient reported (last curated november 2012) | n2=en:multiorgan failure may result from hs | rel=r_associated | relid=0 | w=34
  1455. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:mutations result in inactivation of nkx3-2 (602183)
    n1=en:one patient reported (last curated november 2012) | n2=en:mutations result in inactivation of nkx3-2 (602183) | rel=r_associated | relid=0 | w=34
  1456. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:myoclonic seizures occur on awakening or within 2 hours of awakening
    n1=en:one patient reported (last curated november 2012) | n2=en:myoclonic seizures occur on awakening or within 2 hours of awakening | rel=r_associated | relid=0 | w=34
  1457. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:narcolepsy and deafness are the first symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:narcolepsy and deafness are the first symptoms | rel=r_associated | relid=0 | w=34
  1458. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:neonatal and late-infantile onset
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal and late-infantile onset | rel=r_associated | relid=0 | w=34
  1459. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:neurologic findings closely resemble those of huntington disease (hd, 143100)
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | rel=r_associated | relid=0 | w=34
  1460. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:neurologic involvement may occur in the absence of visceral involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic involvement may occur in the absence of visceral involvement | rel=r_associated | relid=0 | w=34
  1461. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:neurologic symptoms may develop decades later
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic symptoms may develop decades later | rel=r_associated | relid=0 | w=34
  1462. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:neuromuscular forms can present as perinate, infant, child, or adult
    n1=en:one patient reported (last curated november 2012) | n2=en:neuromuscular forms can present as perinate, infant, child, or adult | rel=r_associated | relid=0 | w=34
  1463. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:neuromuscular, cardiovascular, and infectious symptoms improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | rel=r_associated | relid=0 | w=34
  1464. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:ninety percent of cases are female
    n1=en:one patient reported (last curated november 2012) | n2=en:ninety percent of cases are female | rel=r_associated | relid=0 | w=34
  1465. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:no abdominal symptoms or neurologic symptoms in harderoporphyria
    n1=en:one patient reported (last curated november 2012) | n2=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | rel=r_associated | relid=0 | w=34
  1466. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:no cardiac or immune defects in patients from the 2 reported families
    n1=en:one patient reported (last curated november 2012) | n2=en:no cardiac or immune defects in patients from the 2 reported families | rel=r_associated | relid=0 | w=34
  1467. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:no congenital form
    n1=en:one patient reported (last curated november 2012) | n2=en:no congenital form | rel=r_associated | relid=0 | w=34
  1468. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:nonpenetrance has been observed
    n1=en:one patient reported (last curated november 2012) | n2=en:nonpenetrance has been observed | rel=r_associated | relid=0 | w=34
  1469. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:nonprogressive
    n1=en:one patient reported (last curated november 2012) | n2=en:nonprogressive | rel=r_associated | relid=0 | w=34
  1470. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome
    n1=en:one patient reported (last curated november 2012) | 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=34
  1471. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377)
    n1=en:one patient reported (last curated november 2012) | n2=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | rel=r_associated | relid=0 | w=34
  1472. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:normal alleles contain 15 to 50 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:normal alleles contain 15 to 50 repeats | rel=r_associated | relid=0 | w=34
  1473. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:normal alleles contain up to 44 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:normal alleles contain up to 44 repeats | rel=r_associated | relid=0 | w=34
  1474. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:normal range of expanded repeats 9-29, hd range 36-121
    n1=en:one patient reported (last curated november 2012) | n2=en:normal range of expanded repeats 9-29, hd range 36-121 | rel=r_associated | relid=0 | w=34
  1475. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:nyctalopia is a later feature of the disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:nyctalopia is a later feature of the disorder | rel=r_associated | relid=0 | w=34
  1476. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)
    n1=en:one patient reported (last curated november 2012) | n2=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | rel=r_associated | relid=0 | w=34
  1477. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:occurs in about 1 in 10,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in about 1 in 10,000 births | rel=r_associated | relid=0 | w=34
  1478. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)
    n1=en:one patient reported (last curated november 2012) | 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=34
  1479. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:occurs much more commonly in women
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs much more commonly in women | rel=r_associated | relid=0 | w=34
  1480. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:ocular abnormalities may be very mild
    n1=en:one patient reported (last curated november 2012) | n2=en:ocular abnormalities may be very mild | rel=r_associated | relid=0 | w=34
  1481. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:often confused with tuberous sclerosis (191000)
    n1=en:one patient reported (last curated november 2012) | n2=en:often confused with tuberous sclerosis (191000) | rel=r_associated | relid=0 | w=34
  1482. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:often lethal in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:often lethal in infancy | rel=r_associated | relid=0 | w=34
  1483. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:often presents with cranial or cervical involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:often presents with cranial or cervical involvement | rel=r_associated | relid=0 | w=34
  1484. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one chinese family has been reported (last curated october 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one chinese family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=34
  1485. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | rel=r_associated | relid=0 | w=34
  1486. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | rel=r_associated | relid=0 | w=34
  1487. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one consanguineous saudi family has been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous saudi family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1488. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one consanguineous senegalese family has been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous senegalese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1489. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one consanguineous turkish family has been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous turkish family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34
  1490. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family and 1 unrelated patient have been reported (last curated july 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family and 1 unrelated patient have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=34
  1491. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family described (last curated october 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family described (last curated october 2013) | rel=r_associated | relid=0 | w=34
  1492. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (as of august 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of august 2010) | rel=r_associated | relid=0 | w=34
  1493. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (as of july 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of july 2011) | rel=r_associated | relid=0 | w=34
  1494. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=34
  1495. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  1496. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=34
  1497. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family of french-canadian origin has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of french-canadian origin has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1498. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family of french-canadian origin has been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of french-canadian origin has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=34
  1499. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family reported (last curated may 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (last curated may 2013) | rel=r_associated | relid=0 | w=34
  1500. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one family with 2 affected fetuses has been reported (as of august 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 2 affected fetuses has been reported (as of august 2011) | rel=r_associated | relid=0 | w=34
  1501. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one german family has been reported (as of september 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:one german family has been reported (as of september 2009) | rel=r_associated | relid=0 | w=34
  1502. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one indian family has been reported (as of october 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one indian family has been reported (as of october 2011) | rel=r_associated | relid=0 | w=34
  1503. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one japanese patient has been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one japanese patient has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34
  1504. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (as of march 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of march 2011) | rel=r_associated | relid=0 | w=34
  1505. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (as of sept 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of sept 2011) | rel=r_associated | relid=0 | w=34
  1506. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=34
  1507. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1508. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | rel=r_associated | relid=0 | w=34
  1509. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one patient was less severely affected
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient was less severely affected | rel=r_associated | relid=0 | w=34
  1510. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one report of brother and sister from nonconsanguineous parents
    n1=en:one patient reported (last curated november 2012) | n2=en:one report of brother and sister from nonconsanguineous parents | rel=r_associated | relid=0 | w=34
  1511. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one report of mother and son (last curated august 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one report of mother and son (last curated august 2012) | rel=r_associated | relid=0 | w=34
  1512. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one spanish family has been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one spanish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=34
  1513. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one swedish patient has been reported (last curated november 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one swedish patient has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=34
  1514. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one swiss family with 19 affected individuals has been described (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=34
  1515. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:one-third of cases are familial
    n1=en:one patient reported (last curated november 2012) | n2=en:one-third of cases are familial | rel=r_associated | relid=0 | w=34
  1516. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:only some patients showed neurologic involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:only some patients showed neurologic involvement | rel=r_associated | relid=0 | w=34
  1517. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset 0-12 hours after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 0-12 hours after birth | rel=r_associated | relid=0 | w=34
  1518. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset 6 months to 2.5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 6 months to 2.5 years | rel=r_associated | relid=0 | w=34
  1519. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset around adolescence in males
    n1=en:one patient reported (last curated november 2012) | n2=en:onset around adolescence in males | rel=r_associated | relid=0 | w=34
  1520. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset around puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset around puberty | rel=r_associated | relid=0 | w=34
  1521. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset before age 20
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before age 20 | rel=r_associated | relid=0 | w=34
  1522. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset between 6 and 12 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 6 and 12 months of age | rel=r_associated | relid=0 | w=34
  1523. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset between ages 1 to 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between ages 1 to 3 years | rel=r_associated | relid=0 | w=34
  1524. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset between ages 12 and 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between ages 12 and 20 years | rel=r_associated | relid=0 | w=34
  1525. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset day of life 1-10 in infants fed lactose-containing milk
    n1=en:one patient reported (last curated november 2012) | n2=en:onset day of life 1-10 in infants fed lactose-containing milk | rel=r_associated | relid=0 | w=34
  1526. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in adolescence or adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in adolescence or adulthood | rel=r_associated | relid=0 | w=34
  1527. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in adulthood (third to fourth decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in adulthood (third to fourth decade) | rel=r_associated | relid=0 | w=34
  1528. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in childhood (range 1 to 9 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range 1 to 9 years) | rel=r_associated | relid=0 | w=34
  1529. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in childhood, adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood, adolescence | rel=r_associated | relid=0 | w=34
  1530. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in childhood, adolescence, and adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood, adolescence, and adulthood | rel=r_associated | relid=0 | w=34
  1531. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in early childhood (infancy to 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood (infancy to 5 years) | rel=r_associated | relid=0 | w=34
  1532. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in early childhood to puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood to puberty | rel=r_associated | relid=0 | w=34
  1533. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in early first decade, although some patients have onset at birth or early in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early first decade, although some patients have onset at birth or early in infancy | rel=r_associated | relid=0 | w=34
  1534. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in early infancy, between 2 weeks and 3 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early infancy, between 2 weeks and 3 months | rel=r_associated | relid=0 | w=34
  1535. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in first 2 decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first 2 decades of life | rel=r_associated | relid=0 | w=34
  1536. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in first decade (birth to 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade (birth to 6 years) | rel=r_associated | relid=0 | w=34
  1537. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in first decades (males)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decades (males) | rel=r_associated | relid=0 | w=34
  1538. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in first month of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first month of life | rel=r_associated | relid=0 | w=34
  1539. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in first or second decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first or second decades | rel=r_associated | relid=0 | w=34
  1540. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in late childhood or early teens
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late childhood or early teens | rel=r_associated | relid=0 | w=34
  1541. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in late twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late twenties | rel=r_associated | relid=0 | w=34
  1542. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in mid-forties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in mid-forties | rel=r_associated | relid=0 | w=34
  1543. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in second decade, but sometimes earlier
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second decade, but sometimes earlier | rel=r_associated | relid=0 | w=34
  1544. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in the neonatal period (0-38 days)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the neonatal period (0-38 days) | rel=r_associated | relid=0 | w=34
  1545. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in the perinatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the perinatal period | rel=r_associated | relid=0 | w=34
  1546. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in utero in severely affected patients
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in utero in severely affected patients | rel=r_associated | relid=0 | w=34
  1547. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in utero or in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in utero or in infancy | rel=r_associated | relid=0 | w=34
  1548. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset in young adulthood (range 18 to 23 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in young adulthood (range 18 to 23 years) | rel=r_associated | relid=0 | w=34
  1549. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset may also occur in early infancy, adolescence, or adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset may also occur in early infancy, adolescence, or adulthood | rel=r_associated | relid=0 | w=34
  1550. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of ataxia in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of ataxia in early childhood | rel=r_associated | relid=0 | w=34
  1551. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of blistering skin in infancy with improvement over time
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of blistering skin in infancy with improvement over time | rel=r_associated | relid=0 | w=34
  1552. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of bone disease in second decade (range 18-44 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of bone disease in second decade (range 18-44 years) | rel=r_associated | relid=0 | w=34
  1553. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of contractures in utero
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of contractures in utero | rel=r_associated | relid=0 | w=34
  1554. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of disease 3-8 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease 3-8 years | rel=r_associated | relid=0 | w=34
  1555. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of disease in late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease in late childhood | rel=r_associated | relid=0 | w=34
  1556. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of encephalopathy between ages 2 and 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of encephalopathy between ages 2 and 3 years | rel=r_associated | relid=0 | w=34
  1557. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of essential tremor between 16 and 44 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of essential tremor between 16 and 44 years | rel=r_associated | relid=0 | w=34
  1558. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of hearing loss in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in adolescence | rel=r_associated | relid=0 | w=34
  1559. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of hearing loss in first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in first decade of life | rel=r_associated | relid=0 | w=34
  1560. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of hearing loss in second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in second decade | rel=r_associated | relid=0 | w=34
  1561. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of hematologic or cns tumors in the first or second decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hematologic or cns tumors in the first or second decades of life | rel=r_associated | relid=0 | w=34
  1562. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of joint contractures later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of joint contractures later in life | rel=r_associated | relid=0 | w=34
  1563. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of liver involvement in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of liver involvement in infancy | rel=r_associated | relid=0 | w=34
  1564. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of myoclonus later in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of myoclonus later in childhood | rel=r_associated | relid=0 | w=34
  1565. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of optic atrophy in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of optic atrophy in first decade | rel=r_associated | relid=0 | w=34
  1566. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of proteinuria in the third to fourth decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of proteinuria in the third to fourth decades | rel=r_associated | relid=0 | w=34
  1567. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of scoliosis as early as 2 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of scoliosis as early as 2 years of age | rel=r_associated | relid=0 | w=34
  1568. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of seizures before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures before age 2 years | rel=r_associated | relid=0 | w=34
  1569. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of seizures between 8 and 11 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures between 8 and 11 months of age | rel=r_associated | relid=0 | w=34
  1570. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of seizures in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures in infancy | rel=r_associated | relid=0 | w=34
  1571. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of seizures ranges from 2 to 11 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures ranges from 2 to 11 years | rel=r_associated | relid=0 | w=34
  1572. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of spastic paraplegia in first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of spastic paraplegia in first year of life | rel=r_associated | relid=0 | w=34
  1573. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms after age 5
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms after age 5 | rel=r_associated | relid=0 | w=34
  1574. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in adolescence or early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=34
  1575. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in early childhood | rel=r_associated | relid=0 | w=34
  1576. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in fifth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in fifth decade | rel=r_associated | relid=0 | w=34
  1577. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in first decade of life | rel=r_associated | relid=0 | w=34
  1578. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in second or third decade (mean 25 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in second or third decade (mean 25 years) | rel=r_associated | relid=0 | w=34
  1579. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in third to fourth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in third to fourth decade of life | rel=r_associated | relid=0 | w=34
  1580. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset of visual loss in the first or second decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of visual loss in the first or second decades | rel=r_associated | relid=0 | w=34
  1581. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset often begins in childhood or adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset often begins in childhood or adolescence | rel=r_associated | relid=0 | w=34
  1582. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset soon after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset soon after birth | rel=r_associated | relid=0 | w=34
  1583. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset usually at birth, but may occur later
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually at birth, but may occur later | rel=r_associated | relid=0 | w=34
  1584. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset usually in childhood (range infancy to late childhood)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood (range infancy to late childhood) | rel=r_associated | relid=0 | w=34
  1585. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset usually in early childhood (but can range from infancy to adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in early childhood (but can range from infancy to adulthood) | rel=r_associated | relid=0 | w=34
  1586. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset usually in early childhood, although ranges from birth to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in early childhood, although ranges from birth to adulthood | rel=r_associated | relid=0 | w=34
  1587. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')
    n1=en:one patient reported (last curated november 2012) | 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=34
  1588. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:onset usually in the neonatal period although later onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in the neonatal period although later onset has been reported | rel=r_associated | relid=0 | w=34
  1589. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:overlapping features with barber-say syndrome (209885)
    n1=en:one patient reported (last curated november 2012) | n2=en:overlapping features with barber-say syndrome (209885) | rel=r_associated | relid=0 | w=34
  1590. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:pathogenic cag repeat length is 51 to 78 triplets
    n1=en:one patient reported (last curated november 2012) | n2=en:pathogenic cag repeat length is 51 to 78 triplets | rel=r_associated | relid=0 | w=34
  1591. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients are often of mediterranean origin
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are often of mediterranean origin | rel=r_associated | relid=0 | w=34
  1592. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients are prone to impaired thermoregulation
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are prone to impaired thermoregulation | rel=r_associated | relid=0 | w=34
  1593. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients can have multiple seizure types
    n1=en:one patient reported (last curated november 2012) | n2=en:patients can have multiple seizure types | rel=r_associated | relid=0 | w=34
  1594. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients do not exhibit ophthalmoplegia
    n1=en:one patient reported (last curated november 2012) | n2=en:patients do not exhibit ophthalmoplegia | rel=r_associated | relid=0 | w=34
  1595. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients exhibit no signs of ocular or cutaneous albinism
    n1=en:one patient reported (last curated november 2012) | n2=en:patients exhibit no signs of ocular or cutaneous albinism | rel=r_associated | relid=0 | w=34
  1596. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients have severe anemia requiring regular transfusions for normal activity
    n1=en:one patient reported (last curated november 2012) | n2=en:patients have severe anemia requiring regular transfusions for normal activity | rel=r_associated | relid=0 | w=34
  1597. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients look as if they have protein deficiency or malnutrition
    n1=en:one patient reported (last curated november 2012) | n2=en:patients look as if they have protein deficiency or malnutrition | rel=r_associated | relid=0 | w=34
  1598. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients may become ventilator-dependent
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may become ventilator-dependent | rel=r_associated | relid=0 | w=34
  1599. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients may become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may become wheelchair-bound | rel=r_associated | relid=0 | w=34
  1600. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients may die in infancy or childhood due to respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=34
  1601. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients may have benign course until late adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may have benign course until late adulthood | rel=r_associated | relid=0 | w=34
  1602. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients of brazilian origin have a pure cerebellar atrophy
    n1=en:one patient reported (last curated november 2012) | n2=en:patients of brazilian origin have a pure cerebellar atrophy | rel=r_associated | relid=0 | w=34
  1603. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | rel=r_associated | relid=0 | w=34
  1604. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:patients with t2 deficiency and urinary abnormalities may be asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | rel=r_associated | relid=0 | w=34
  1605. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:peak age of onset in second decade (range childhood to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:peak age of onset in second decade (range childhood to 50 years) | rel=r_associated | relid=0 | w=34
  1606. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described
    n1=en:one patient reported (last curated november 2012) | n2=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | rel=r_associated | relid=0 | w=34
  1607. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:penetrance is usually complete by age 65 years
    n1=en:one patient reported (last curated november 2012) | n2=en:penetrance is usually complete by age 65 years | rel=r_associated | relid=0 | w=34
  1608. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:perinatal lethality
    n1=en:one patient reported (last curated november 2012) | n2=en:perinatal lethality | rel=r_associated | relid=0 | w=34
  1609. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:peripheral neuropathy occurs in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:peripheral neuropathy occurs in adulthood | rel=r_associated | relid=0 | w=34
  1610. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | rel=r_associated | relid=0 | w=34
  1611. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with fhm1 (141500) and sca6 (183086)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | rel=r_associated | relid=0 | w=34
  1612. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with revesz syndrome (268130)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with revesz syndrome (268130) | rel=r_associated | relid=0 | w=34
  1613. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:phenotypic similarities to costello syndrome (218040)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic similarities to costello syndrome (218040) | rel=r_associated | relid=0 | w=34
  1614. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:pigmentation not always butterfly-shaped
    n1=en:one patient reported (last curated november 2012) | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=34
  1615. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:pigmented spots appear in infancy through childhood and fade in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:pigmented spots appear in infancy through childhood and fade in adulthood | rel=r_associated | relid=0 | w=34
  1616. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070
    n1=en:one patient reported (last curated november 2012) | n2=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | rel=r_associated | relid=0 | w=34
  1617. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:possible increase of aneuploidy in offspring
    n1=en:one patient reported (last curated november 2012) | n2=en:possible increase of aneuploidy in offspring | rel=r_associated | relid=0 | w=34
  1618. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:precipitated by fever
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitated by fever | rel=r_associated | relid=0 | w=34
  1619. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:precipitated by infection, fasting, or intercurrent illness
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitated by infection, fasting, or intercurrent illness | rel=r_associated | relid=0 | w=34
  1620. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:prevalence in poland is 1 in 129,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in poland is 1 in 129,000 | rel=r_associated | relid=0 | w=34
  1621. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:prevalence is estimated to be 1 in 150,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence is estimated to be 1 in 150,000 | rel=r_associated | relid=0 | w=34
  1622. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 40,000 among caucasians
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 40,000 among caucasians | rel=r_associated | relid=0 | w=34
  1623. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:prevalent in ashkenazi jews
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in ashkenazi jews | rel=r_associated | relid=0 | w=34
  1624. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:progression in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:progression in adulthood | rel=r_associated | relid=0 | w=34
  1625. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:progressive deafness
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive deafness | rel=r_associated | relid=0 | w=34
  1626. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:progressive disorder, usually with rapid, relentless course
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disorder, usually with rapid, relentless course | rel=r_associated | relid=0 | w=34
  1627. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:progressive disorder, with older patients exhibiting more severe symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disorder, with older patients exhibiting more severe symptoms | rel=r_associated | relid=0 | w=34
  1628. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:rash, edema, and arthralgia may occur during crisis
    n1=en:one patient reported (last curated november 2012) | n2=en:rash, edema, and arthralgia may occur during crisis | rel=r_associated | relid=0 | w=34
  1629. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:recurrent bacterial, viral, and fungal infections
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent bacterial, viral, and fungal infections | rel=r_associated | relid=0 | w=34
  1630. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:reduced life expectancy
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced life expectancy | rel=r_associated | relid=0 | w=34
  1631. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:reduced penetrance has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced penetrance has been reported | rel=r_associated | relid=0 | w=34
  1632. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:reduced penetrance in females
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced penetrance in females | rel=r_associated | relid=0 | w=34
  1633. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:renal dysfunction normalizes in the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:renal dysfunction normalizes in the first year of life | rel=r_associated | relid=0 | w=34
  1634. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:renal failure in second or third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:renal failure in second or third decade | rel=r_associated | relid=0 | w=34
  1635. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:residual neurologic deficits are slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:residual neurologic deficits are slowly progressive | rel=r_associated | relid=0 | w=34
  1636. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:response to benadryl (diphenhydramine)
    n1=en:one patient reported (last curated november 2012) | n2=en:response to benadryl (diphenhydramine) | rel=r_associated | relid=0 | w=34
  1637. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:responsive to oral mannose therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:responsive to oral mannose therapy | rel=r_associated | relid=0 | w=34
  1638. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:risk of affected offspring in maternal translocation carrier - 4-10%
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of affected offspring in maternal translocation carrier - 4-10% | rel=r_associated | relid=0 | w=34
  1639. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)
    n1=en:one patient reported (last curated november 2012) | 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=34
  1640. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:secondary prevention, avoid smoking, alcohol, and oxidants
    n1=en:one patient reported (last curated november 2012) | n2=en:secondary prevention, avoid smoking, alcohol, and oxidants | rel=r_associated | relid=0 | w=34
  1641. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:see 255160 for an autosomal recessive form
    n1=en:one patient reported (last curated november 2012) | n2=en:see 255160 for an autosomal recessive form | rel=r_associated | relid=0 | w=34
  1642. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:see also chromosome 2q32-q33 deletion syndrome (612313)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also chromosome 2q32-q33 deletion syndrome (612313) | rel=r_associated | relid=0 | w=34
  1643. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740)
    n1=en:one patient reported (last curated november 2012) | 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=34
  1644. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:see also dominant deb (131750), an allelic disorder with a similar phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | rel=r_associated | relid=0 | w=34
  1645. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome
    n1=en:one patient reported (last curated november 2012) | 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=34
  1646. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:see also the autosomal recessive form (243000)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also the autosomal recessive form (243000) | rel=r_associated | relid=0 | w=34
  1647. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:see cmt4a (214400) for autosomal recessive demyelinating forms
    n1=en:one patient reported (last curated november 2012) | n2=en:see cmt4a (214400) for autosomal recessive demyelinating forms | rel=r_associated | relid=0 | w=34
  1648. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> 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:one patient reported (last curated november 2012) | 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=34
  1649. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:seen more frequently in infants of diabetic mothers
    n1=en:one patient reported (last curated november 2012) | n2=en:seen more frequently in infants of diabetic mothers | rel=r_associated | relid=0 | w=34
  1650. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:seizures may improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may improve with age | rel=r_associated | relid=0 | w=34
  1651. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:seizures may occur upon awakening or at any time during the day
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may occur upon awakening or at any time during the day | rel=r_associated | relid=0 | w=34
  1652. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:seizures may remit in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may remit in adolescence | rel=r_associated | relid=0 | w=34
  1653. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:seizures may remit with age (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may remit with age (in some patients) | rel=r_associated | relid=0 | w=34
  1654. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:seizures precipitated by fatigue or alcohol
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=34
  1655. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:seizures usually remit in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures usually remit in adolescence | rel=r_associated | relid=0 | w=34
  1656. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1657. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  1658. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=34
  1659. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=34
  1660. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1661. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=34
  1662. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=34
  1663. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  1664. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=34
  1665. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=34
  1666. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=34
  1667. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:several forms of autosomal recessive spastic paraplegia (see 270800)
    n1=en:one patient reported (last curated november 2012) | n2=en:several forms of autosomal recessive spastic paraplegia (see 270800) | rel=r_associated | relid=0 | w=34
  1668. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:severe ambulatory restriction
    n1=en:one patient reported (last curated november 2012) | n2=en:severe ambulatory restriction | rel=r_associated | relid=0 | w=34
  1669. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:severe form with onset at 3 to 4 months of age and severe developmental delay
    n1=en:one patient reported (last curated november 2012) | n2=en:severe form with onset at 3 to 4 months of age and severe developmental delay | rel=r_associated | relid=0 | w=34
  1670. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:severe infections in untreated patients with neutropenia
    n1=en:one patient reported (last curated november 2012) | n2=en:severe infections in untreated patients with neutropenia | rel=r_associated | relid=0 | w=34
  1671. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
    n1=en:one patient reported (last curated november 2012) | n2=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | rel=r_associated | relid=0 | w=34
  1672. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:severity of hematologic disorder decreases with advancing age
    n1=en:one patient reported (last curated november 2012) | n2=en:severity of hematologic disorder decreases with advancing age | rel=r_associated | relid=0 | w=34
  1673. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:significant clinical overlap with sotos syndrome (117550)
    n1=en:one patient reported (last curated november 2012) | n2=en:significant clinical overlap with sotos syndrome (117550) | rel=r_associated | relid=0 | w=34
  1674. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:single umbilical artery
    n1=en:one patient reported (last curated november 2012) | n2=en:single umbilical artery | rel=r_associated | relid=0 | w=34
  1675. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:sister of affected male siblings had mild learning disabilities and obesity
    n1=en:one patient reported (last curated november 2012) | n2=en:sister of affected male siblings had mild learning disabilities and obesity | rel=r_associated | relid=0 | w=34
  1676. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:six genetically confirmed patients have been reported (as of december 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:six genetically confirmed patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=34
  1677. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:six patients have been reported (as of october 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:six patients have been reported (as of october 2011) | rel=r_associated | relid=0 | w=34
  1678. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skeletal features are variably present
    n1=en:one patient reported (last curated november 2012) | n2=en:skeletal features are variably present | rel=r_associated | relid=0 | w=34
  1679. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skin changes are progressive in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:skin changes are progressive in childhood | rel=r_associated | relid=0 | w=34
  1680. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skin lesions are fully penetrant by second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions are fully penetrant by second decade | rel=r_associated | relid=0 | w=34
  1681. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skin lesions are primarily trauma-induced but occasionally appear spontaneously
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | rel=r_associated | relid=0 | w=34
  1682. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skin lesions exacerbated by heat, exercise (sweating), and sunlight
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | rel=r_associated | relid=0 | w=34
  1683. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skin lesions resolve between 6 months and 2 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions resolve between 6 months and 2 years of age | rel=r_associated | relid=0 | w=34
  1684. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life
    n1=en:one patient reported (last curated november 2012) | 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=34
  1685. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:skin peeling exacerbated by heat, friction, and humidity
    n1=en:one patient reported (last curated november 2012) | n2=en:skin peeling exacerbated by heat, friction, and humidity | rel=r_associated | relid=0 | w=34
  1686. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:sleep terrors usually remit during adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:sleep terrors usually remit during adolescence | rel=r_associated | relid=0 | w=34
  1687. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:slow, progressive growth, then stable
    n1=en:one patient reported (last curated november 2012) | n2=en:slow, progressive growth, then stable | rel=r_associated | relid=0 | w=34
  1688. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:somatic mosaicism has been observed in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:somatic mosaicism has been observed in some patients | rel=r_associated | relid=0 | w=34
  1689. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:somatic mutations occur in adrenal tumor tissue (601639.0001)
    n1=en:one patient reported (last curated november 2012) | n2=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | rel=r_associated | relid=0 | w=34
  1690. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some carrier females have mild features
    n1=en:one patient reported (last curated november 2012) | n2=en:some carrier females have mild features | rel=r_associated | relid=0 | w=34
  1691. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some features are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:some features are variable | rel=r_associated | relid=0 | w=34
  1692. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some features may be variable
    n1=en:one patient reported (last curated november 2012) | n2=en:some features may be variable | rel=r_associated | relid=0 | w=34
  1693. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders
    n1=en:one patient reported (last curated november 2012) | n2=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | rel=r_associated | relid=0 | w=34
  1694. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some female patients can conceive after administration of gonadotropins
    n1=en:one patient reported (last curated november 2012) | n2=en:some female patients can conceive after administration of gonadotropins | rel=r_associated | relid=0 | w=34
  1695. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some heterozygotes may have increased urinary excretion of cystine and may develop stones
    n1=en:one patient reported (last curated november 2012) | n2=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | rel=r_associated | relid=0 | w=34
  1696. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some patients do not have bone disease
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not have bone disease | rel=r_associated | relid=0 | w=34
  1697. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | rel=r_associated | relid=0 | w=34
  1698. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some patients have lethal fetal akinesia with death in utero
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have lethal fetal akinesia with death in utero | rel=r_associated | relid=0 | w=34
  1699. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some patients have persistence of seizures to adulthood, but then show remission
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have persistence of seizures to adulthood, but then show remission | rel=r_associated | relid=0 | w=34
  1700. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some patients may not present until adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may not present until adulthood | rel=r_associated | relid=0 | w=34
  1701. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some patients require insulin for treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients require insulin for treatment | rel=r_associated | relid=0 | w=34
  1702. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:some patients show improvement in muscle power in the teenage years
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show improvement in muscle power in the teenage years | rel=r_associated | relid=0 | w=34
  1703. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:spasticity is slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:spasticity is slowly progressive | rel=r_associated | relid=0 | w=34
  1704. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features
    n1=en:one patient reported (last curated november 2012) | n2=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | rel=r_associated | relid=0 | w=34
  1705. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:stillbirth
    n1=en:one patient reported (last curated november 2012) | n2=en:stillbirth | rel=r_associated | relid=0 | w=34
  1706. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:subset of patients have cytochrome c oxidase deficiency (see 220110)
    n1=en:one patient reported (last curated november 2012) | n2=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | rel=r_associated | relid=0 | w=34
  1707. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:sudden death within first days of life
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death within first days of life | rel=r_associated | relid=0 | w=34
  1708. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:survival to 5-15 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:survival to 5-15 years of age | rel=r_associated | relid=0 | w=34
  1709. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:survivors develop dysautonomia-like symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:survivors develop dysautonomia-like symptoms | rel=r_associated | relid=0 | w=34
  1710. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350))
    n1=en:one patient reported (last curated november 2012) | n2=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | rel=r_associated | relid=0 | w=34
  1711. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:survivors may develop renal insufficiency and hepatic dysfunction
    n1=en:one patient reported (last curated november 2012) | n2=en:survivors may develop renal insufficiency and hepatic dysfunction | rel=r_associated | relid=0 | w=34
  1712. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms develop immediately after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms develop immediately after birth | rel=r_associated | relid=0 | w=34
  1713. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms may be precipitated by infection
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms may be precipitated by infection | rel=r_associated | relid=0 | w=34
  1714. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms may decrease after age 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms may decrease after age 30 years | rel=r_associated | relid=0 | w=34
  1715. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | rel=r_associated | relid=0 | w=34
  1716. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms progress with worsening myopathy
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms progress with worsening myopathy | rel=r_associated | relid=0 | w=34
  1717. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms remain focal
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms remain focal | rel=r_associated | relid=0 | w=34
  1718. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms show insidious onset in the late first through third decades
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms show insidious onset in the late first through third decades | rel=r_associated | relid=0 | w=34
  1719. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms usually induced only by strenuous exercise
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms usually induced only by strenuous exercise | rel=r_associated | relid=0 | w=34
  1720. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms usually last 30-60 minutes
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms usually last 30-60 minutes | rel=r_associated | relid=0 | w=34
  1721. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:symptoms usually resolve without treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms usually resolve without treatment | rel=r_associated | relid=0 | w=34
  1722. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:temperature instability
    n1=en:one patient reported (last curated november 2012) | n2=en:temperature instability | rel=r_associated | relid=0 | w=34
  1723. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance)
    n1=en:one patient reported (last curated november 2012) | n2=en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) | rel=r_associated | relid=0 | w=34
  1724. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia
    n1=en:one patient reported (last curated november 2012) | 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=34
  1725. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:three families have been reported (last curated august 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=34
  1726. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:three patients from 2 families have been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients from 2 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1727. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:three patients from 2 unrelated families have been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients from 2 unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=34
  1728. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)
    n1=en:one patient reported (last curated november 2012) | n2=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | rel=r_associated | relid=0 | w=34
  1729. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood
    n1=en:one patient reported (last curated november 2012) | 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=34
  1730. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:three unrelated families have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1731. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:three unrelated families have been reported (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=34
  1732. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:thromboembolism is the most common cause of death
    n1=en:one patient reported (last curated november 2012) | n2=en:thromboembolism is the most common cause of death | rel=r_associated | relid=0 | w=34
  1733. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery
    n1=en:one patient reported (last curated november 2012) | n2=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | rel=r_associated | relid=0 | w=34
  1734. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:thyroid carcinoma
    n1=en:one patient reported (last curated november 2012) | n2=en:thyroid carcinoma | rel=r_associated | relid=0 | w=34
  1735. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:treatment with betaine, especially for pyridoxine nonresponders
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with betaine, especially for pyridoxine nonresponders | rel=r_associated | relid=0 | w=34
  1736. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | rel=r_associated | relid=0 | w=34
  1737. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:tremors develop after seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:tremors develop after seizures | rel=r_associated | relid=0 | w=34
  1738. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes
    n1=en:one patient reported (last curated november 2012) | 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=34
  1739. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two consanguineous lebanese families have been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two consanguineous lebanese families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=34
  1740. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two families of canadian origin have been reported (last curated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families of canadian origin have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=34
  1741. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two pakistani families have been reported (last curated december 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two pakistani families have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=34
  1742. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | rel=r_associated | relid=0 | w=34
  1743. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two sibs have been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1744. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two sibs, a boy and a girl, have been reported (as of july 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs, a boy and a girl, have been reported (as of july 2009) | rel=r_associated | relid=0 | w=34
  1745. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two subtypes - seminoma and nonseminoma
    n1=en:one patient reported (last curated november 2012) | n2=en:two subtypes - seminoma and nonseminoma | rel=r_associated | relid=0 | w=34
  1746. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two subtypes, episodic (85% of patients) and chronic (15%)
    n1=en:one patient reported (last curated november 2012) | n2=en:two subtypes, episodic (85% of patients) and chronic (15%) | rel=r_associated | relid=0 | w=34
  1747. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two types - lethal neonatal and less severe, late onset
    n1=en:one patient reported (last curated november 2012) | n2=en:two types - lethal neonatal and less severe, late onset | rel=r_associated | relid=0 | w=34
  1748. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> 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:one patient reported (last curated november 2012) | 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=34
  1749. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)
    n1=en:one patient reported (last curated november 2012) | 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=34
  1750. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1751. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=34
  1752. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1753. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated september 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated september 2012) | rel=r_associated | relid=0 | w=34
  1754. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two unrelated japanese families have been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated japanese families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34
  1755. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=34
  1756. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients with confirmed mutations have been reported (as of january 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | rel=r_associated | relid=0 | w=34
  1757. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | rel=r_associated | relid=0 | w=34
  1758. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | rel=r_associated | relid=0 | w=34
  1759. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:type 2cb is characterized by defective binding affinity for collagen types i and iii
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | rel=r_associated | relid=0 | w=34
  1760. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:type i is infantile-onset, severe
    n1=en:one patient reported (last curated november 2012) | n2=en:type i is infantile-onset, severe | rel=r_associated | relid=0 | w=34
  1761. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:type iiib liver involvement only (15% of all cases)
    n1=en:one patient reported (last curated november 2012) | n2=en:type iiib liver involvement only (15% of all cases) | rel=r_associated | relid=0 | w=34
  1762. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:types of psoriasis include - plaque, guttate, erythrodermic, pustular
    n1=en:one patient reported (last curated november 2012) | n2=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | rel=r_associated | relid=0 | w=34
  1763. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:upper limb involvement occur later
    n1=en:one patient reported (last curated november 2012) | n2=en:upper limb involvement occur later | rel=r_associated | relid=0 | w=34
  1764. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:usual age of onset in the 20s and 30s
    n1=en:one patient reported (last curated november 2012) | n2=en:usual age of onset in the 20s and 30s | rel=r_associated | relid=0 | w=34
  1765. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:usually follows a static course or is slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:usually follows a static course or is slowly progressive | rel=r_associated | relid=0 | w=34
  1766. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:usually occurs in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:usually occurs in young adulthood | rel=r_associated | relid=0 | w=34
  1767. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (late childhood to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (late childhood to adult) | rel=r_associated | relid=0 | w=34
  1768. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 8 to 60 years, mean 32)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 8 to 60 years, mean 32) | rel=r_associated | relid=0 | w=34
  1769. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range birth to teenage years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range birth to teenage years) | rel=r_associated | relid=0 | w=34
  1770. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range from early childhood to mid-adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range from early childhood to mid-adult) | rel=r_associated | relid=0 | w=34
  1771. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range infancy to 30 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range infancy to 30 years) | rel=r_associated | relid=0 | w=34
  1772. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset of symptoms (from childhood to the sixth decade of life)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | rel=r_associated | relid=0 | w=34
  1773. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset, infancy to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, infancy to adulthood | rel=r_associated | relid=0 | w=34
  1774. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset, most often in second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, most often in second decade | rel=r_associated | relid=0 | w=34
  1775. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age at onset, range infancy to adult
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, range infancy to adult | rel=r_associated | relid=0 | w=34
  1776. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable age of onset, from 6 to 50 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset, from 6 to 50 years of age | rel=r_associated | relid=0 | w=34
  1777. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable cardiac phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:variable cardiac phenotype | rel=r_associated | relid=0 | w=34
  1778. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable disease severity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable disease severity | rel=r_associated | relid=0 | w=34
  1779. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable expressivity, even within families
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expressivity, even within families | rel=r_associated | relid=0 | w=34
  1780. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable expressivity, some patients may be clinically asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expressivity, some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=34
  1781. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable extraneurologic features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable extraneurologic features | rel=r_associated | relid=0 | w=34
  1782. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable phenotype and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype and severity | rel=r_associated | relid=0 | w=34
  1783. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable presentation and evolution of symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:variable presentation and evolution of symptoms | rel=r_associated | relid=0 | w=34
  1784. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable response to vitamin b12 therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:variable response to vitamin b12 therapy | rel=r_associated | relid=0 | w=34
  1785. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable severity between patients and between eyes (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity between patients and between eyes (in some patients) | rel=r_associated | relid=0 | w=34
  1786. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable severity of scaling and palmoplantar keratoderma
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity of scaling and palmoplantar keratoderma | rel=r_associated | relid=0 | w=34
  1787. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable severity, even within families
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity, even within families | rel=r_associated | relid=0 | w=34
  1788. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variable severity, ranging from central severe to peripheral to transient
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity, ranging from central severe to peripheral to transient | rel=r_associated | relid=0 | w=34
  1789. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:variation in slc24a5 has also been associated with variation in skin color (shep4)
    n1=en:one patient reported (last curated november 2012) | n2=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | rel=r_associated | relid=0 | w=34
  1790. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:very slow progression
    n1=en:one patient reported (last curated november 2012) | n2=en:very slow progression | rel=r_associated | relid=0 | w=34
  1791. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:virtually all patients are female
    n1=en:one patient reported (last curated november 2012) | n2=en:virtually all patients are female | rel=r_associated | relid=0 | w=34
  1792. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:visual acuity varies from 20/20 to no light perception
    n1=en:one patient reported (last curated november 2012) | n2=en:visual acuity varies from 20/20 to no light perception | rel=r_associated | relid=0 | w=34
  1793. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:visual symptoms present by late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:visual symptoms present by late childhood | rel=r_associated | relid=0 | w=34
  1794. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:wide clinical variability
    n1=en:one patient reported (last curated november 2012) | n2=en:wide clinical variability | rel=r_associated | relid=0 | w=34
  1795. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:wide variability in severity of limb defects
    n1=en:one patient reported (last curated november 2012) | n2=en:wide variability in severity of limb defects | rel=r_associated | relid=0 | w=34
  1796. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:worldwide frequency of 1 in 100,000 infants
    n1=en:one patient reported (last curated november 2012) | n2=en:worldwide frequency of 1 in 100,000 infants | rel=r_associated | relid=0 | w=34
  1797. en:one patient reported (last curated november 2012) -- r_associated #0: 34 / 0.791 -> en:young-adult onset (18-30 years) of sensory ataxia
    n1=en:one patient reported (last curated november 2012) | n2=en:young-adult onset (18-30 years) of sensory ataxia | rel=r_associated | relid=0 | w=34
  1798. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:(1) classic severe (onset of symptoms 4 to 7 days of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | rel=r_associated | relid=0 | w=32
  1799. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:(1) infantile nephropathic (219800)
    n1=en:one patient reported (last curated november 2012) | n2=en:(1) infantile nephropathic (219800) | rel=r_associated | relid=0 | w=32
  1800. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:2 patients described
    n1=en:one patient reported (last curated november 2012) | n2=en:2 patients described | rel=r_associated | relid=0 | w=32
  1801. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:40 patients in 16 dominant kindreds reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:40 patients in 16 dominant kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=32
  1802. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:46,xy carriers are unaffected
    n1=en:one patient reported (last curated november 2012) | n2=en:46,xy carriers are unaffected | rel=r_associated | relid=0 | w=32
  1803. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:5-10% of all wilms tumor are bilateral
    n1=en:one patient reported (last curated november 2012) | n2=en:5-10% of all wilms tumor are bilateral | rel=r_associated | relid=0 | w=32
  1804. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:78% due to chromosome 14 maternal uniparental disomy
    n1=en:one patient reported (last curated november 2012) | n2=en:78% due to chromosome 14 maternal uniparental disomy | rel=r_associated | relid=0 | w=32
  1805. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:94% develop hypertension at 18 years of age or less
    n1=en:one patient reported (last curated november 2012) | n2=en:94% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=32
  1806. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:95% of cases are sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:95% of cases are sporadic | rel=r_associated | relid=0 | w=32
  1807. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:99+% of the mutations are fgfr3, g380r (134934.0001)
    n1=en:one patient reported (last curated november 2012) | n2=en:99+% of the mutations are fgfr3, g380r (134934.0001) | rel=r_associated | relid=0 | w=32
  1808. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:a second family had mild intellectual disability
    n1=en:one patient reported (last curated november 2012) | n2=en:a second family had mild intellectual disability | rel=r_associated | relid=0 | w=32
  1809. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:about 50% of patients become wheelchair-bound at an average age of 37 years
    n1=en:one patient reported (last curated november 2012) | n2=en:about 50% of patients become wheelchair-bound at an average age of 37 years | rel=r_associated | relid=0 | w=32
  1810. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:accounts for <2% of patients with alzheimer's disease
    n1=en:one patient reported (last curated november 2012) | n2=en:accounts for <2% of patients with alzheimer's disease | rel=r_associated | relid=0 | w=32
  1811. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:accounts for 30-50% of lymphomas in children
    n1=en:one patient reported (last curated november 2012) | n2=en:accounts for 30-50% of lymphomas in children | rel=r_associated | relid=0 | w=32
  1812. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult form is asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:adult form is asymptomatic | rel=r_associated | relid=0 | w=32
  1813. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult onset (25-45 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (25-45 years) | rel=r_associated | relid=0 | w=32
  1814. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult onset (range 14 to 70 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 14 to 70 years) | rel=r_associated | relid=0 | w=32
  1815. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult onset (second to sixth decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (second to sixth decade) | rel=r_associated | relid=0 | w=32
  1816. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult onset (third decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (third decade) | rel=r_associated | relid=0 | w=32
  1817. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult onset after puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset after puberty | rel=r_associated | relid=0 | w=32
  1818. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult onset from second to seventh decade
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset from second to seventh decade | rel=r_associated | relid=0 | w=32
  1819. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:adult onset rarely reported
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset rarely reported | rel=r_associated | relid=0 | w=32
  1820. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:affected infants often die in utero or in the postnatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:affected infants often die in utero or in the postnatal period | rel=r_associated | relid=0 | w=32
  1821. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:affected males show onset of hematuria in first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males show onset of hematuria in first year of life | rel=r_associated | relid=0 | w=32
  1822. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:affects up to 10% of women in their reproductive years
    n1=en:one patient reported (last curated november 2012) | n2=en:affects up to 10% of women in their reproductive years | rel=r_associated | relid=0 | w=32
  1823. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age at diagnosis 24 +/- 18 years for dominant disease
    n1=en:one patient reported (last curated november 2012) | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=32
  1824. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age at diagnosis 36 +/- 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at diagnosis 36 +/- 20 years | rel=r_associated | relid=0 | w=32
  1825. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age of onset 17 to 68 years (mean 39)
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 17 to 68 years (mean 39) | rel=r_associated | relid=0 | w=32
  1826. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age of onset of distal lower limb weakness 8-16 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=32
  1827. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age of onset third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset third decade | rel=r_associated | relid=0 | w=32
  1828. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age of onset within the first years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset within the first years of life | rel=r_associated | relid=0 | w=32
  1829. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age of onset, 6-20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset, 6-20 years | rel=r_associated | relid=0 | w=32
  1830. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:age:time:pt:^egg donor:qn
    n1=en:one patient reported (last curated november 2012) | n2=en:age:time:pt:^egg donor:qn | rel=r_associated | relid=0 | w=32
  1831. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:all reported cases have occurred de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:all reported cases have occurred de novo | rel=r_associated | relid=0 | w=32
  1832. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder is long qt syndrome-3 (lqt3, 603830)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | rel=r_associated | relid=0 | w=32
  1833. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to charcot-marie-tooth disease type 1a (118220)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | rel=r_associated | relid=0 | w=32
  1834. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | rel=r_associated | relid=0 | w=32
  1835. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | rel=r_associated | relid=0 | w=32
  1836. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to infantile neuroaxonal dystrophy (256600)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | rel=r_associated | relid=0 | w=32
  1837. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | rel=r_associated | relid=0 | w=32
  1838. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to northern epilepsy (610003)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to northern epilepsy (610003) | rel=r_associated | relid=0 | w=32
  1839. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | rel=r_associated | relid=0 | w=32
  1840. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to rippling muscle disease (rmd, 606072)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to rippling muscle disease (rmd, 606072) | rel=r_associated | relid=0 | w=32
  1841. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | rel=r_associated | relid=0 | w=32
  1842. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | rel=r_associated | relid=0 | w=32
  1843. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to brachydactyly, type a2 (112600)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to brachydactyly, type a2 (112600) | rel=r_associated | relid=0 | w=32
  1844. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to cartilage-hair hypoplasia (250250)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to cartilage-hair hypoplasia (250250) | rel=r_associated | relid=0 | w=32
  1845. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to cowden disease (158350), which has a later age at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to cowden disease (158350), which has a later age at onset | rel=r_associated | relid=0 | w=32
  1846. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to dentinogenesis imperfecta 1 (125490)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to dentinogenesis imperfecta 1 (125490) | rel=r_associated | relid=0 | w=32
  1847. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to early-onset familial alzheimer disease (ad1, 104300)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | rel=r_associated | relid=0 | w=32
  1848. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to enhanced s-cone syndrome (268100)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to enhanced s-cone syndrome (268100) | rel=r_associated | relid=0 | w=32
  1849. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | rel=r_associated | relid=0 | w=32
  1850. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | rel=r_associated | relid=0 | w=32
  1851. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | rel=r_associated | relid=0 | w=32
  1852. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=32
  1853. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | rel=r_associated | relid=0 | w=32
  1854. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
    n1=en:one patient reported (last curated november 2012) | 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=32
  1855. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:allelic to waardenburg syndrome, type iia (193510)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to waardenburg syndrome, type iia (193510) | rel=r_associated | relid=0 | w=32
  1856. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:an autosomal recessive form has been reported (269720)
    n1=en:one patient reported (last curated november 2012) | n2=en:an autosomal recessive form has been reported (269720) | rel=r_associated | relid=0 | w=32
  1857. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | rel=r_associated | relid=0 | w=32
  1858. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia
    n1=en:one patient reported (last curated november 2012) | n2=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | rel=r_associated | relid=0 | w=32
  1859. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:approximately 60% of cases are due to somatic mutations and are unilateral
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 60% of cases are due to somatic mutations and are unilateral | rel=r_associated | relid=0 | w=32
  1860. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:approximately 70-80% of cases are de novo and sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=32
  1861. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:as of 2009, one family has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:as of 2009, one family has been reported | rel=r_associated | relid=0 | w=32
  1862. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> 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:one patient reported (last curated november 2012) | 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=32
  1863. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | rel=r_associated | relid=0 | w=32
  1864. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:associated with tuberous sclerosis (191100)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with tuberous sclerosis (191100) | rel=r_associated | relid=0 | w=32
  1865. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:at birth, there is generalized red scaly skin
    n1=en:one patient reported (last curated november 2012) | n2=en:at birth, there is generalized red scaly skin | rel=r_associated | relid=0 | w=32
  1866. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:ataxia becomes evident at the end of the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:ataxia becomes evident at the end of the first year of life | rel=r_associated | relid=0 | w=32
  1867. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:autosomal dominant and autosomal recessive forms
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant and autosomal recessive forms | rel=r_associated | relid=0 | w=32
  1868. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:autosomal dominant omodysplasia has also been described (164745)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant omodysplasia has also been described (164745) | rel=r_associated | relid=0 | w=32
  1869. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:autosomal recessive cytochrome b-negative cgd (233690)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive cytochrome b-negative cgd (233690) | rel=r_associated | relid=0 | w=32
  1870. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:autosomal recessive cytochrome b-positive cgd, type ii
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive cytochrome b-positive cgd, type ii | rel=r_associated | relid=0 | w=32
  1871. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:autosomal recessive form (277720) has also been described
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=32
  1872. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:average age at death is 37 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at death is 37 years | rel=r_associated | relid=0 | w=32
  1873. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:average age at onset 38 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset 38 years | rel=r_associated | relid=0 | w=32
  1874. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on 1 5-generation family (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 5-generation family (last curated january 2015) | rel=r_associated | relid=0 | w=32
  1875. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on 1 large swiss german kindred (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 large swiss german kindred (last curated august 2015) | rel=r_associated | relid=0 | w=32
  1876. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on 1 report of monozygotic twins (last curated may 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 report of monozygotic twins (last curated may 2014) | rel=r_associated | relid=0 | w=32
  1877. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on 1 reported family (last curated december 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 reported family (last curated december 2013) | rel=r_associated | relid=0 | w=32
  1878. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on 1 reported patient (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 reported patient (last curated november 2013) | rel=r_associated | relid=0 | w=32
  1879. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on 2 siblings in 1 family (last curated september 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 siblings in 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=32
  1880. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on one report of 4 unrelated sporadic patients
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one report of 4 unrelated sporadic patients | rel=r_associated | relid=0 | w=32
  1881. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on one report of a 4-generation family with 4 affected males and 6 affected females
    n1=en:one patient reported (last curated november 2012) | 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=32
  1882. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | rel=r_associated | relid=0 | w=32
  1883. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 unrelated patients
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 unrelated patients | rel=r_associated | relid=0 | w=32
  1884. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 unrelated patients (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 unrelated patients (last curated february 2016) | rel=r_associated | relid=0 | w=32
  1885. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on report of 4 patients from 1 family (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=32
  1886. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | rel=r_associated | relid=0 | w=32
  1887. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on report of a hispanic mother and son (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of a hispanic mother and son (last curated february 2016) | rel=r_associated | relid=0 | w=32
  1888. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on report of one indian family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of one indian family (last curated august 2015) | rel=r_associated | relid=0 | w=32
  1889. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | rel=r_associated | relid=0 | w=32
  1890. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720)
    n1=en:one patient reported (last curated november 2012) | n2=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | rel=r_associated | relid=0 | w=32
  1891. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | rel=r_associated | relid=0 | w=32
  1892. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:birth rate of 7.6 per 1,000,000
    n1=en:one patient reported (last curated november 2012) | n2=en:birth rate of 7.6 per 1,000,000 | rel=r_associated | relid=0 | w=32
  1893. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:blistering tends to improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:blistering tends to improve with age | rel=r_associated | relid=0 | w=32
  1894. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:bone anomalies may be seen on prenatal ultrasound (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | rel=r_associated | relid=0 | w=32
  1895. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:brain mri abnormalities show improvement with time
    n1=en:one patient reported (last curated november 2012) | n2=en:brain mri abnormalities show improvement with time | rel=r_associated | relid=0 | w=32
  1896. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:carrier females may show mild mental retardation or learning disabilities
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females may show mild mental retardation or learning disabilities | rel=r_associated | relid=0 | w=32
  1897. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:carrier females may show neuropsychologic impairment
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females may show neuropsychologic impairment | rel=r_associated | relid=0 | w=32
  1898. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:cases reported in the old order amish and one japanese family (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:cases reported in the old order amish and one japanese family (last curated april 2014) | rel=r_associated | relid=0 | w=32
  1899. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss
    n1=en:one patient reported (last curated november 2012) | n2=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | rel=r_associated | relid=0 | w=32
  1900. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | rel=r_associated | relid=0 | w=32
  1901. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:caused by inheritance of the mutation on the maternal allele (imprinting)
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by inheritance of the mutation on the maternal allele (imprinting) | rel=r_associated | relid=0 | w=32
  1902. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:central hypoventilation occurs late in the disease and is often fatal
    n1=en:one patient reported (last curated november 2012) | n2=en:central hypoventilation occurs late in the disease and is often fatal | rel=r_associated | relid=0 | w=32
  1903. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)
    n1=en:one patient reported (last curated november 2012) | 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=32
  1904. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:citation:bib:pt:reference lab test:nar
    n1=en:one patient reported (last curated november 2012) | n2=en:citation:bib:pt:reference lab test:nar | rel=r_associated | relid=0 | w=32
  1905. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:clinical and pathologic features of both demyelinating and axonal cmt
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical and pathologic features of both demyelinating and axonal cmt | rel=r_associated | relid=0 | w=32
  1906. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:clinical features may vary
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical features may vary | rel=r_associated | relid=0 | w=32
  1907. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1908. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:clinical presentation varies
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical presentation varies | rel=r_associated | relid=0 | w=32
  1909. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:clinical variability
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical variability | rel=r_associated | relid=0 | w=32
  1910. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:clinical variability, both pure and complicated forms
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=32
  1911. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | rel=r_associated | relid=0 | w=32
  1912. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:complete absence of melanin synthesis
    n1=en:one patient reported (last curated november 2012) | n2=en:complete absence of melanin synthesis | rel=r_associated | relid=0 | w=32
  1913. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:cone-shaped epiphyses usually not present before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:cone-shaped epiphyses usually not present before age 2 years | rel=r_associated | relid=0 | w=32
  1914. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:congenital abnormality
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital abnormality | rel=r_associated | relid=0 | w=32
  1915. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | rel=r_associated | relid=0 | w=32
  1916. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:contiguous gene deletion syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=32
  1917. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:contiguous gene syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:contiguous gene syndrome | rel=r_associated | relid=0 | w=32
  1918. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:one patient reported (last curated november 2012) | 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=32
  1919. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death in early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death in early infancy | rel=r_associated | relid=0 | w=32
  1920. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death in first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death in first months of life | rel=r_associated | relid=0 | w=32
  1921. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death in first-second decade of life secondary to cardio-respiratory compromise
    n1=en:one patient reported (last curated november 2012) | n2=en:death in first-second decade of life secondary to cardio-respiratory compromise | rel=r_associated | relid=0 | w=32
  1922. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death in infancy without bone marrow transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy without bone marrow transplantation | rel=r_associated | relid=0 | w=32
  1923. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death in utero (30%)
    n1=en:one patient reported (last curated november 2012) | n2=en:death in utero (30%) | rel=r_associated | relid=0 | w=32
  1924. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death usually in sixth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in sixth decade | rel=r_associated | relid=0 | w=32
  1925. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death usually occurs in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs in childhood | rel=r_associated | relid=0 | w=32
  1926. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:death usually within first weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually within first weeks of life | rel=r_associated | relid=0 | w=32
  1927. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:decreased penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:decreased penetrance | rel=r_associated | relid=0 | w=32
  1928. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:defect in tetrahydrobiopterin (bh4) synthesis
    n1=en:one patient reported (last curated november 2012) | n2=en:defect in tetrahydrobiopterin (bh4) synthesis | rel=r_associated | relid=0 | w=32
  1929. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:described in individuals of roma gypsy origin (founder mutation)
    n1=en:one patient reported (last curated november 2012) | n2=en:described in individuals of roma gypsy origin (founder mutation) | rel=r_associated | relid=0 | w=32
  1930. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:diagnosis in seventh decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis in seventh decade of life | rel=r_associated | relid=0 | w=32
  1931. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297)
    n1=en:one patient reported (last curated november 2012) | n2=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | rel=r_associated | relid=0 | w=32
  1932. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes
    n1=en:one patient reported (last curated november 2012) | n2=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | rel=r_associated | relid=0 | w=32
  1933. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:disability by end of first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:disability by end of first decade | rel=r_associated | relid=0 | w=32
  1934. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:disease is nonprogressive in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:disease is nonprogressive in most patients | rel=r_associated | relid=0 | w=32
  1935. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:disproportionately short limbs often noted at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:disproportionately short limbs often noted at birth | rel=r_associated | relid=0 | w=32
  1936. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:early death from infection may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:early death from infection may occur | rel=r_associated | relid=0 | w=32
  1937. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:early death in patients with cloverleaf skull
    n1=en:one patient reported (last curated november 2012) | n2=en:early death in patients with cloverleaf skull | rel=r_associated | relid=0 | w=32
  1938. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:early death occurs in affected infants (days to months after disease onset)
    n1=en:one patient reported (last curated november 2012) | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=32
  1939. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:early death without kidney transplant
    n1=en:one patient reported (last curated november 2012) | n2=en:early death without kidney transplant | rel=r_associated | relid=0 | w=32
  1940. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:early onset (average 1 year)
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset (average 1 year) | rel=r_associated | relid=0 | w=32
  1941. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:electrolyte imbalances can mimic renal bartter syndrome (601678)
    n1=en:one patient reported (last curated november 2012) | n2=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | rel=r_associated | relid=0 | w=32
  1942. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:end-stage renal failure may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=32
  1943. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:epiphyseal stippling is gone by 8 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:epiphyseal stippling is gone by 8 months of age | rel=r_associated | relid=0 | w=32
  1944. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:episodes last from several hours to days
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=32
  1945. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:episodes of fatigue or weakness (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes of fatigue or weakness (in some patients) | rel=r_associated | relid=0 | w=32
  1946. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:erythema accompanied by stinging or burning sensation in some cases
    n1=en:one patient reported (last curated november 2012) | n2=en:erythema accompanied by stinging or burning sensation in some cases | rel=r_associated | relid=0 | w=32
  1947. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:estimated carrier frequency in charlevoix-saguenay region is 1/22
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | rel=r_associated | relid=0 | w=32
  1948. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:extrapyramidal signs show a favorable response to levodopa
    n1=en:one patient reported (last curated november 2012) | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=32
  1949. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:extremely variable phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:extremely variable phenotype | rel=r_associated | relid=0 | w=32
  1950. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964)
    n1=en:one patient reported (last curated november 2012) | n2=en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) | rel=r_associated | relid=0 | w=32
  1951. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:familial occurrence is rare
    n1=en:one patient reported (last curated november 2012) | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=32
  1952. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:fatal outcome if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal outcome if untreated | rel=r_associated | relid=0 | w=32
  1953. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:favorable initial response to l-dopa
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable initial response to l-dopa | rel=r_associated | relid=0 | w=32
  1954. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:favorable response to anticholinesterase medication
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to anticholinesterase medication | rel=r_associated | relid=0 | w=32
  1955. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:favorable response to corticosteroid treatment (1 family)
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to corticosteroid treatment (1 family) | rel=r_associated | relid=0 | w=32
  1956. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:favorable response to high-dose steroids
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to high-dose steroids | rel=r_associated | relid=0 | w=32
  1957. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:feeding difficulties in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:feeding difficulties in infancy | rel=r_associated | relid=0 | w=32
  1958. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:feet are unaffected
    n1=en:one patient reported (last curated november 2012) | n2=en:feet are unaffected | rel=r_associated | relid=0 | w=32
  1959. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:female carriers may be affected
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=32
  1960. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:female carriers may have hearing loss and/or subclinical peripheral neuropathy
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | rel=r_associated | relid=0 | w=32
  1961. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:female carriers may have mild hearing impairment
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have mild hearing impairment | rel=r_associated | relid=0 | w=32
  1962. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  1963. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:fetal death may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:fetal death may occur | rel=r_associated | relid=0 | w=32
  1964. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:fifty percent of cases are sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:fifty percent of cases are sporadic | rel=r_associated | relid=0 | w=32
  1965. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:first name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:first name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=32
  1966. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:five patients have been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:five patients have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=32
  1967. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:founder effect in irish traveler population
    n1=en:one patient reported (last curated november 2012) | n2=en:founder effect in irish traveler population | rel=r_associated | relid=0 | w=32
  1968. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
    n1=en:one patient reported (last curated november 2012) | n2=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | rel=r_associated | relid=0 | w=32
  1969. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:four patients from 3 families have been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=32
  1970. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:four patients have been reported (as of december 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=32
  1971. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:four patients have been reported (as of july 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=32
  1972. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:four patients reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients reported (last curated april 2013) | rel=r_associated | relid=0 | w=32
  1973. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:fracture frequency constant through childhood, decreases after puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:fracture frequency constant through childhood, decreases after puberty | rel=r_associated | relid=0 | w=32
  1974. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 213300)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 213300) | rel=r_associated | relid=0 | w=32
  1975. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | rel=r_associated | relid=0 | w=32
  1976. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677)
    n1=en:one patient reported (last curated november 2012) | 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=32
  1977. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see ebn2 121201, ebn3 608217)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | rel=r_associated | relid=0 | w=32
  1978. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see mada, 248370)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see mada, 248370) | rel=r_associated | relid=0 | w=32
  1979. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see mcc2 deficiency 210210)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see mcc2 deficiency 210210) | rel=r_associated | relid=0 | w=32
  1980. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see psnp2 609454)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see psnp2 609454) | rel=r_associated | relid=0 | w=32
  1981. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see sca1, 164000)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see sca1, 164000) | rel=r_associated | relid=0 | w=32
  1982. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | rel=r_associated | relid=0 | w=32
  1983. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | rel=r_associated | relid=0 | w=32
  1984. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see bos2 (120502) and bos3 (608389)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | rel=r_associated | relid=0 | w=32
  1985. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:one patient reported (last curated november 2012) | 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=32
  1986. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:good response to clonazepam
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to clonazepam | rel=r_associated | relid=0 | w=32
  1987. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:good response to l-dopa initially
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to l-dopa initially | rel=r_associated | relid=0 | w=32
  1988. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:hepatic failure develops in first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=32
  1989. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | rel=r_associated | relid=0 | w=32
  1990. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing
    n1=en:one patient reported (last curated november 2012) | 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=32
  1991. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:heterozygous mutation present in 5-7% of the japanese population
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous mutation present in 5-7% of the japanese population | rel=r_associated | relid=0 | w=32
  1992. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:high prevalence in charlevoix-saguenay region of northeastern quebec
    n1=en:one patient reported (last curated november 2012) | n2=en:high prevalence in charlevoix-saguenay region of northeastern quebec | rel=r_associated | relid=0 | w=32
  1993. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:high risk of death in infancy due to cardiac failure
    n1=en:one patient reported (last curated november 2012) | n2=en:high risk of death in infancy due to cardiac failure | rel=r_associated | relid=0 | w=32
  1994. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:highly variable intrafamilial severity
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable intrafamilial severity | rel=r_associated | relid=0 | w=32
  1995. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=32
  1996. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:histologic features overlap with henoch-schonlein purpura (hspn)
    n1=en:one patient reported (last curated november 2012) | n2=en:histologic features overlap with henoch-schonlein purpura (hspn) | rel=r_associated | relid=0 | w=32
  1997. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:homo sapiens do not have a functional l-gulonolactone oxidase gene
    n1=en:one patient reported (last curated november 2012) | n2=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | rel=r_associated | relid=0 | w=32
  1998. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:homozygotes have more severe disease with earlier onset of thrombosis
    n1=en:one patient reported (last curated november 2012) | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=32
  1999. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)
    n1=en:one patient reported (last curated november 2012) | n2=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | rel=r_associated | relid=0 | w=32
  2000. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2001. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age
    n1=en:one patient reported (last curated november 2012) | n2=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | rel=r_associated | relid=0 | w=32
  2002. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:hypogonadism reported in a large swedish kindred
    n1=en:one patient reported (last curated november 2012) | n2=en:hypogonadism reported in a large swedish kindred | rel=r_associated | relid=0 | w=32
  2003. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2004. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:imprinting at 11p15.5
    n1=en:one patient reported (last curated november 2012) | n2=en:imprinting at 11p15.5 | rel=r_associated | relid=0 | w=32
  2005. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities
    n1=en:one patient reported (last curated november 2012) | 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=32
  2006. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:in the absence of hydrops, death occurs within 3 months
    n1=en:one patient reported (last curated november 2012) | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=32
  2007. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:inborn error of the pyrimidine degradation pathway
    n1=en:one patient reported (last curated november 2012) | n2=en:inborn error of the pyrimidine degradation pathway | rel=r_associated | relid=0 | w=32
  2008. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence - 1 in 25,000-100,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence - 1 in 25,000-100,000 | rel=r_associated | relid=0 | w=32
  2009. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence 1/1,200-1/15,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1/1,200-1/15,000 live births | rel=r_associated | relid=0 | w=32
  2010. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence in the finnish population of 0.2-1.3 cases per million per year
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence in the finnish population of 0.2-1.3 cases per million per year | rel=r_associated | relid=0 | w=32
  2011. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
    n1=en:one patient reported (last curated november 2012) | 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=32
  2012. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 1.5 million births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=32
  2013. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 50,000 to 1 in 100,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=32
  2014. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 500,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 500,000 live births | rel=r_associated | relid=0 | w=32
  2015. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence of all forms of cjd is 0.5 to 1.5 per million per year
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | rel=r_associated | relid=0 | w=32
  2016. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=32
  2017. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:incomplete penetrance, some individuals have only emg changes without other clinical signs
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | rel=r_associated | relid=0 | w=32
  2018. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | rel=r_associated | relid=0 | w=32
  2019. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:increased penetrance of phenotype when there is maternal transmission of the mutant allele
    n1=en:one patient reported (last curated november 2012) | n2=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | rel=r_associated | relid=0 | w=32
  2020. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:increased risk of post-splenectomy thrombotic complications (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of post-splenectomy thrombotic complications (in some patients) | rel=r_associated | relid=0 | w=32
  2021. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:infertility
    n1=en:one patient reported (last curated november 2012) | n2=en:infertility | rel=r_associated | relid=0 | w=32
  2022. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord
    n1=en:one patient reported (last curated november 2012) | n2=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | rel=r_associated | relid=0 | w=32
  2023. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:interfamilial and intrafamilial variability in severity of symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:interfamilial and intrafamilial variability in severity of symptoms | rel=r_associated | relid=0 | w=32
  2024. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:intermediate levels of factor x in mildly symptomatic heterozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:intermediate levels of factor x in mildly symptomatic heterozygotes | rel=r_associated | relid=0 | w=32
  2025. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:internal organ rupture may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=32
  2026. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:laryngeal edema can result in asphyxiation
    n1=en:one patient reported (last curated november 2012) | n2=en:laryngeal edema can result in asphyxiation | rel=r_associated | relid=0 | w=32
  2027. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:later childhood onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:later childhood onset has been reported | rel=r_associated | relid=0 | w=32
  2028. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:later onset associated with milder severity has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset associated with milder severity has been reported | rel=r_associated | relid=0 | w=32
  2029. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:leakage of fluid ('gusher') if the stapes is disturbed
    n1=en:one patient reported (last curated november 2012) | n2=en:leakage of fluid ('gusher') if the stapes is disturbed | rel=r_associated | relid=0 | w=32
  2030. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:length of attack, 3 to 7 days
    n1=en:one patient reported (last curated november 2012) | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=32
  2031. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:levodopa-responsive
    n1=en:one patient reported (last curated november 2012) | n2=en:levodopa-responsive | rel=r_associated | relid=0 | w=32
  2032. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:lifetime risk of breast cancer in mutation carriers is 80 to 90%
    n1=en:one patient reported (last curated november 2012) | n2=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | rel=r_associated | relid=0 | w=32
  2033. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:limited clinical information due to surgical removal of lens in affected individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:limited clinical information due to surgical removal of lens in affected individuals | rel=r_associated | relid=0 | w=32
  2034. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:limited clinical information provided on patients with bbs7 mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:limited clinical information provided on patients with bbs7 mutations | rel=r_associated | relid=0 | w=32
  2035. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:liver enzymes decrease with age
    n1=en:one patient reported (last curated november 2012) | n2=en:liver enzymes decrease with age | rel=r_associated | relid=0 | w=32
  2036. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:loss of independent ambulation due to muscle weakness in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:loss of independent ambulation due to muscle weakness in adulthood | rel=r_associated | relid=0 | w=32
  2037. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:loss of independent walking by teenage years (in some)
    n1=en:one patient reported (last curated november 2012) | n2=en:loss of independent walking by teenage years (in some) | rel=r_associated | relid=0 | w=32
  2038. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:lower limb weakness is presenting feature
    n1=en:one patient reported (last curated november 2012) | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=32
  2039. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:lymphedema occurs in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:lymphedema occurs in childhood | rel=r_associated | relid=0 | w=32
  2040. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:major fetal plasma protein produced by yolk sac and liver
    n1=en:one patient reported (last curated november 2012) | n2=en:major fetal plasma protein produced by yolk sac and liver | rel=r_associated | relid=0 | w=32
  2041. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:majority are isolated cases
    n1=en:one patient reported (last curated november 2012) | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=32
  2042. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:majority cases are sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:majority cases are sporadic | rel=r_associated | relid=0 | w=32
  2043. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:majority of cases (95%) are sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=32
  2044. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:majority of cases are sporadic, some autosomal dominant families have been described
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases are sporadic, some autosomal dominant families have been described | rel=r_associated | relid=0 | w=32
  2045. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:majority of cases from middle eastern countries
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases from middle eastern countries | rel=r_associated | relid=0 | w=32
  2046. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:majority of cases in the afrikaner population of south africa
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases in the afrikaner population of south africa | rel=r_associated | relid=0 | w=32
  2047. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:majority of eec cases appear to be secondary to tp63 (603273) mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | rel=r_associated | relid=0 | w=32
  2048. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:male predominance
    n1=en:one patient reported (last curated november 2012) | n2=en:male predominance | rel=r_associated | relid=0 | w=32
  2049. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders
    n1=en:one patient reported (last curated november 2012) | 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=32
  2050. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:manifestations of cushing syndrome may be mild
    n1=en:one patient reported (last curated november 2012) | n2=en:manifestations of cushing syndrome may be mild | rel=r_associated | relid=0 | w=32
  2051. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:many cases due to de novo mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:many cases due to de novo mutation | rel=r_associated | relid=0 | w=32
  2052. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:marked phenotypic variability
    n1=en:one patient reported (last curated november 2012) | n2=en:marked phenotypic variability | rel=r_associated | relid=0 | w=32
  2053. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:marked phenotypic variability, even within an individual
    n1=en:one patient reported (last curated november 2012) | n2=en:marked phenotypic variability, even within an individual | rel=r_associated | relid=0 | w=32
  2054. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia
    n1=en:one patient reported (last curated november 2012) | n2=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | rel=r_associated | relid=0 | w=32
  2055. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:maternal anticipation bias
    n1=en:one patient reported (last curated november 2012) | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=32
  2056. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features
    n1=en:one patient reported (last curated november 2012) | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=32
  2057. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:may occur cormorbidly with poland syndrome (173800)
    n1=en:one patient reported (last curated november 2012) | n2=en:may occur cormorbidly with poland syndrome (173800) | rel=r_associated | relid=0 | w=32
  2058. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:may respond to cholinesterase inhibitors
    n1=en:one patient reported (last curated november 2012) | n2=en:may respond to cholinesterase inhibitors | rel=r_associated | relid=0 | w=32
  2059. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:may result in death in neonatal period or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:may result in death in neonatal period or early childhood | rel=r_associated | relid=0 | w=32
  2060. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:may result in sudden death
    n1=en:one patient reported (last curated november 2012) | n2=en:may result in sudden death | rel=r_associated | relid=0 | w=32
  2061. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean age at diagnosis is 38 years(range 11-63 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at diagnosis is 38 years(range 11-63 years) | rel=r_associated | relid=0 | w=32
  2062. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean age at onset 33 years (range 20-60)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=32
  2063. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean age at onset of migraines is 42 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=32
  2064. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean age at termination 3 to 4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=32
  2065. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean age of onset 50 to 52 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=32
  2066. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean age of onset, 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=32
  2067. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=32
  2068. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mean duration of symptoms 4.2 plus or minus 2.4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean duration of symptoms 4.2 plus or minus 2.4 years | rel=r_associated | relid=0 | w=32
  2069. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:median age at onset is 21 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median age at onset is 21 years | rel=r_associated | relid=0 | w=32
  2070. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:median age of onset of pancytopenia - 10 years (range 1-32 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | rel=r_associated | relid=0 | w=32
  2071. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mental retardation likely secondary to neonatal hypoxia
    n1=en:one patient reported (last curated november 2012) | n2=en:mental retardation likely secondary to neonatal hypoxia | rel=r_associated | relid=0 | w=32
  2072. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mild phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:mild phenotype | rel=r_associated | relid=0 | w=32
  2073. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mild phenotype onset - 11-18 months
    n1=en:one patient reported (last curated november 2012) | n2=en:mild phenotype onset - 11-18 months | rel=r_associated | relid=0 | w=32
  2074. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)
    n1=en:one patient reported (last curated november 2012) | n2=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | rel=r_associated | relid=0 | w=32
  2075. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:more common in men (9:1 male:female ratio)
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in men (9:1 male:female ratio) | rel=r_associated | relid=0 | w=32
  2076. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:more frequent in males
    n1=en:one patient reported (last curated november 2012) | n2=en:more frequent in males | rel=r_associated | relid=0 | w=32
  2077. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most cases due to de novo mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases due to de novo mutation | rel=r_associated | relid=0 | w=32
  2078. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most cases result from a de novo mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases result from a de novo mutation | rel=r_associated | relid=0 | w=32
  2079. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)
    n1=en:one patient reported (last curated november 2012) | 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=32
  2080. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most common inherited bleeding disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:most common inherited bleeding disorder | rel=r_associated | relid=0 | w=32
  2081. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most have resolution of symptoms between 6 and 12 months
    n1=en:one patient reported (last curated november 2012) | n2=en:most have resolution of symptoms between 6 and 12 months | rel=r_associated | relid=0 | w=32
  2082. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most mutations occur de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:most mutations occur de novo | rel=r_associated | relid=0 | w=32
  2083. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients become wheelchair-bound after 20 to 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become wheelchair-bound after 20 to 30 years | rel=r_associated | relid=0 | w=32
  2084. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients become wheelchair-bound in later childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become wheelchair-bound in later childhood | rel=r_associated | relid=0 | w=32
  2085. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients become wheelchair-bound in the second to fourth decades
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become wheelchair-bound in the second to fourth decades | rel=r_associated | relid=0 | w=32
  2086. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients have a family history of fragile x syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients have a family history of fragile x syndrome | rel=r_associated | relid=0 | w=32
  2087. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients have adult onset of symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients have adult onset of symptoms | rel=r_associated | relid=0 | w=32
  2088. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients present in infancy with anemia
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients present in infancy with anemia | rel=r_associated | relid=0 | w=32
  2089. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients remain ambulatory in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients remain ambulatory in adulthood | rel=r_associated | relid=0 | w=32
  2090. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients require liver transplant in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients require liver transplant in childhood | rel=r_associated | relid=0 | w=32
  2091. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most patients show early childhood onset after a period of normal development
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients show early childhood onset after a period of normal development | rel=r_associated | relid=0 | w=32
  2092. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:most severe type of von willebrand disease
    n1=en:one patient reported (last curated november 2012) | n2=en:most severe type of von willebrand disease | rel=r_associated | relid=0 | w=32
  2093. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:motor neuropathy more prominent than sensory neuropathy
    n1=en:one patient reported (last curated november 2012) | n2=en:motor neuropathy more prominent than sensory neuropathy | rel=r_associated | relid=0 | w=32
  2094. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mousy odor
    n1=en:one patient reported (last curated november 2012) | n2=en:mousy odor | rel=r_associated | relid=0 | w=32
  2095. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:murcs association
    n1=en:one patient reported (last curated november 2012) | n2=en:murcs association | rel=r_associated | relid=0 | w=32
  2096. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840)
    n1=en:one patient reported (last curated november 2012) | n2=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | rel=r_associated | relid=0 | w=32
  2097. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:nails appear normal at birth, with dystrophic changes developing within the first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | rel=r_associated | relid=0 | w=32
  2098. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:neurologic signs may not be present
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic signs may not be present | rel=r_associated | relid=0 | w=32
  2099. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:neuropathy becomes apparent in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:neuropathy becomes apparent in childhood | rel=r_associated | relid=0 | w=32
  2100. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:new skin lesions stop appearing before adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:new skin lesions stop appearing before adolescence | rel=r_associated | relid=0 | w=32
  2101. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:nine patients have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=32
  2102. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:no clinical manifestations were noted (incidental laboratory finding)
    n1=en:one patient reported (last curated november 2012) | n2=en:no clinical manifestations were noted (incidental laboratory finding) | rel=r_associated | relid=0 | w=32
  2103. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:no response or worsening with acetylcholinesterase inhibitors
    n1=en:one patient reported (last curated november 2012) | n2=en:no response or worsening with acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=32
  2104. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:no systemic manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:no systemic manifestations | rel=r_associated | relid=0 | w=32
  2105. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:non-progressive or very slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:non-progressive or very slowly progressive | rel=r_associated | relid=0 | w=32
  2106. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:nonprogressive hepatic form is less frequent
    n1=en:one patient reported (last curated november 2012) | n2=en:nonprogressive hepatic form is less frequent | rel=r_associated | relid=0 | w=32
  2107. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:nonreflex epilepsy may occur later in 16 to 38% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:nonreflex epilepsy may occur later in 16 to 38% of patients | rel=r_associated | relid=0 | w=32
  2108. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal ability to tolerate heat
    n1=en:one patient reported (last curated november 2012) | n2=en:normal ability to tolerate heat | rel=r_associated | relid=0 | w=32
  2109. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal alleles contain 6 to 28 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:normal alleles contain 6 to 28 repeats | rel=r_associated | relid=0 | w=32
  2110. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:normal at birth | rel=r_associated | relid=0 | w=32
  2111. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal cag repeat length is 7 to 32 triplets
    n1=en:one patient reported (last curated november 2012) | n2=en:normal cag repeat length is 7 to 32 triplets | rel=r_associated | relid=0 | w=32
  2112. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal development between episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:normal development between episodes | rel=r_associated | relid=0 | w=32
  2113. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development
    n1=en:one patient reported (last curated november 2012) | 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=32
  2114. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal female secondary sexual characteristics
    n1=en:one patient reported (last curated november 2012) | n2=en:normal female secondary sexual characteristics | rel=r_associated | relid=0 | w=32
  2115. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal first month
    n1=en:one patient reported (last curated november 2012) | n2=en:normal first month | rel=r_associated | relid=0 | w=32
  2116. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:normal neonatal blood phenylalanine has been reported in rare patients
    n1=en:one patient reported (last curated november 2012) | n2=en:normal neonatal blood phenylalanine has been reported in rare patients | rel=r_associated | relid=0 | w=32
  2117. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:number of episodes varies from 1 to many (up to 20)
    n1=en:one patient reported (last curated november 2012) | n2=en:number of episodes varies from 1 to many (up to 20) | rel=r_associated | relid=0 | w=32
  2118. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:nystagmus is often the presenting sign
    n1=en:one patient reported (last curated november 2012) | n2=en:nystagmus is often the presenting sign | rel=r_associated | relid=0 | w=32
  2119. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:often associated with klippel-feil anomaly (118100)
    n1=en:one patient reported (last curated november 2012) | n2=en:often associated with klippel-feil anomaly (118100) | rel=r_associated | relid=0 | w=32
  2120. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:often associated with syringomyelia (186700)
    n1=en:one patient reported (last curated november 2012) | n2=en:often associated with syringomyelia (186700) | rel=r_associated | relid=0 | w=32
  2121. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one amish family has been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one amish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=32
  2122. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one chinese family with a confirmed mutation has been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=32
  2123. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one consanguineous costa rican family has been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous costa rican family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=32
  2124. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | rel=r_associated | relid=0 | w=32
  2125. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one consanguineous pakistani family has been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=32
  2126. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one consanguineous turkish family has been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous turkish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=32
  2127. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family from the old order amish has been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family from the old order amish has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=32
  2128. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (as of april 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=32
  2129. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=32
  2130. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated october 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=32
  2131. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family has been reported with limited clinical information (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported with limited clinical information (last curated october 2014) | rel=r_associated | relid=0 | w=32
  2132. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family reported (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (last curated november 2013) | rel=r_associated | relid=0 | w=32
  2133. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family reported with piezo2 mutation (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported with piezo2 mutation (last curated january 2015) | rel=r_associated | relid=0 | w=32
  2134. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family with a cacna1b mutation has been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with a cacna1b mutation has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=32
  2135. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one family with confirmed genetic basis has been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with confirmed genetic basis has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32
  2136. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one italian family has been described (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=32
  2137. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=32
  2138. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one lebanese family has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=32
  2139. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one pakistani family has been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one pakistani family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32
  2140. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one palestinian family and one lebanese family have been described (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one palestinian family and one lebanese family have been described (last curated march 2016) | rel=r_associated | relid=0 | w=32
  2141. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one patient died at 17 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient died at 17 months of age | rel=r_associated | relid=0 | w=32
  2142. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=32
  2143. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated january 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=32
  2144. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=32
  2145. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32
  2146. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one patient reported with slitrk1 mutation (as of january 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient reported with slitrk1 mutation (as of january 2010) | rel=r_associated | relid=0 | w=32
  2147. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one patient showed improvement and was thriving at 46 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient showed improvement and was thriving at 46 months of age | rel=r_associated | relid=0 | w=32
  2148. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:one third of patients represent new mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:one third of patients represent new mutations | rel=r_associated | relid=0 | w=32
  2149. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset 5 to 7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 5 to 7 years | rel=r_associated | relid=0 | w=32
  2150. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset 5-30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 5-30 years | rel=r_associated | relid=0 | w=32
  2151. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset 7 to 15 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 7 to 15 months of age | rel=r_associated | relid=0 | w=32
  2152. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset after puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset after puberty | rel=r_associated | relid=0 | w=32
  2153. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset at 6-36 hours of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 6-36 hours of life | rel=r_associated | relid=0 | w=32
  2154. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset before 10 years of age in all patients
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before 10 years of age in all patients | rel=r_associated | relid=0 | w=32
  2155. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset before age 5 years in the absence of instruction
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before age 5 years in the absence of instruction | rel=r_associated | relid=0 | w=32
  2156. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset between 2 and 4 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 2 and 4 years of age | rel=r_associated | relid=0 | w=32
  2157. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset between 5 and 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 5 and 20 years | rel=r_associated | relid=0 | w=32
  2158. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset between ages 16-55
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between ages 16-55 | rel=r_associated | relid=0 | w=32
  2159. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset birth to 6 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset birth to 6 months | rel=r_associated | relid=0 | w=32
  2160. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset birth to early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset birth to early infancy | rel=r_associated | relid=0 | w=32
  2161. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset by 3 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset by 3 years of age | rel=r_associated | relid=0 | w=32
  2162. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset early in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset early in first decade | rel=r_associated | relid=0 | w=32
  2163. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset from first to third decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset from first to third decades of life | rel=r_associated | relid=0 | w=32
  2164. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in 1st to 3rd decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in 1st to 3rd decade of life | rel=r_associated | relid=0 | w=32
  2165. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in childhood or early adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or early adolescence | rel=r_associated | relid=0 | w=32
  2166. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in childhood or early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or early adulthood | rel=r_associated | relid=0 | w=32
  2167. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in childhood or young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or young adulthood | rel=r_associated | relid=0 | w=32
  2168. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in feet and legs (peroneal distribution)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=32
  2169. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in females ranges from third to seventh decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in females ranges from third to seventh decade | rel=r_associated | relid=0 | w=32
  2170. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in first 8 weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first 8 weeks of life | rel=r_associated | relid=0 | w=32
  2171. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in first days of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first days of life | rel=r_associated | relid=0 | w=32
  2172. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in first decade (as early as infancy in some)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=32
  2173. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in first weeks to months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first weeks to months of life | rel=r_associated | relid=0 | w=32
  2174. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in fourth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in fourth decade | rel=r_associated | relid=0 | w=32
  2175. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in fourth to fifth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in fourth to fifth decade | rel=r_associated | relid=0 | w=32
  2176. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in fourth to sixth decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in fourth to sixth decades | rel=r_associated | relid=0 | w=32
  2177. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in infancy (first hours to weeks of life)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy (first hours to weeks of life) | rel=r_associated | relid=0 | w=32
  2178. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in infancy after weaning from being breast-fed
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy after weaning from being breast-fed | rel=r_associated | relid=0 | w=32
  2179. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or childhood | rel=r_associated | relid=0 | w=32
  2180. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in infancy was reported in 1 family
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy was reported in 1 family | rel=r_associated | relid=0 | w=32
  2181. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in late adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late adulthood | rel=r_associated | relid=0 | w=32
  2182. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in late childhood/adolescence (approximately 15 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late childhood/adolescence (approximately 15 years) | rel=r_associated | relid=0 | w=32
  2183. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in neonatal period or infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in neonatal period or infancy | rel=r_associated | relid=0 | w=32
  2184. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset in second decade or as young adult
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second decade or as young adult | rel=r_associated | relid=0 | w=32
  2185. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset may occur in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset may occur in adulthood | rel=r_associated | relid=0 | w=32
  2186. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of bleeding in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of bleeding in infancy or early childhood | rel=r_associated | relid=0 | w=32
  2187. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of deafness in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of deafness in early childhood | rel=r_associated | relid=0 | w=32
  2188. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of dilated cardiomyopathy less than 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of dilated cardiomyopathy less than 3 years | rel=r_associated | relid=0 | w=32
  2189. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of disease around 10 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease around 10 years of age | rel=r_associated | relid=0 | w=32
  2190. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of episodic liver failure in first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of episodic liver failure in first 2 years of life | rel=r_associated | relid=0 | w=32
  2191. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of gaze palsy at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of gaze palsy at birth | rel=r_associated | relid=0 | w=32
  2192. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of lipodystrophy in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of lipodystrophy in early childhood | rel=r_associated | relid=0 | w=32
  2193. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of normal pressure hydrocephalus after age 65 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of normal pressure hydrocephalus after age 65 years | rel=r_associated | relid=0 | w=32
  2194. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of peripheral neuropathy ranges from childhood to mid-adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | rel=r_associated | relid=0 | w=32
  2195. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of renal dysfunction in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of renal dysfunction in early childhood | rel=r_associated | relid=0 | w=32
  2196. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of sensory neuropathy in later adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of sensory neuropathy in later adulthood | rel=r_associated | relid=0 | w=32
  2197. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of skin manifestations from birth to puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of skin manifestations from birth to puberty | rel=r_associated | relid=0 | w=32
  2198. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms between ages 3-8 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms between ages 3-8 years of age | rel=r_associated | relid=0 | w=32
  2199. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in childhood | rel=r_associated | relid=0 | w=32
  2200. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in first or second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in first or second decade of life | rel=r_associated | relid=0 | w=32
  2201. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in second to fifth decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in second to fifth decades of life | rel=r_associated | relid=0 | w=32
  2202. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in second to third decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in second to third decades of life | rel=r_associated | relid=0 | w=32
  2203. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in the fourth to sixth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in the fourth to sixth decade of life | rel=r_associated | relid=0 | w=32
  2204. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms less than one year
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms less than one year | rel=r_associated | relid=0 | w=32
  2205. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms usually in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms usually in adulthood | rel=r_associated | relid=0 | w=32
  2206. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset of tumors usually in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of tumors usually in adulthood | rel=r_associated | relid=0 | w=32
  2207. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset ranges from 2 days to 7 months (most at 2-3 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from 2 days to 7 months (most at 2-3 months) | rel=r_associated | relid=0 | w=32
  2208. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset ranges from early childhood to adulthood (usually before age 15)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from early childhood to adulthood (usually before age 15) | rel=r_associated | relid=0 | w=32
  2209. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset typically in childhood although onset in late adolescence or early adulthood has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | rel=r_associated | relid=0 | w=32
  2210. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset usually after age 40
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually after age 40 | rel=r_associated | relid=0 | w=32
  2211. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset usually in childhood (range 6 months to 16 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood (range 6 months to 16 years) | rel=r_associated | relid=0 | w=32
  2212. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset usually in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in first decade | rel=r_associated | relid=0 | w=32
  2213. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset usually in second decade (may occur earlier)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in second decade (may occur earlier) | rel=r_associated | relid=0 | w=32
  2214. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:onset usually in the neck
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in the neck | rel=r_associated | relid=0 | w=32
  2215. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:ophthalmologic signs onset in first to sixth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:ophthalmologic signs onset in first to sixth decade | rel=r_associated | relid=0 | w=32
  2216. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:oral contraceptives may also cause symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:oral contraceptives may also cause symptoms | rel=r_associated | relid=0 | w=32
  2217. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:ossification occurs spontaneously during childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:ossification occurs spontaneously during childhood | rel=r_associated | relid=0 | w=32
  2218. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=32
  2219. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | rel=r_associated | relid=0 | w=32
  2220. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:overall course less severe compared to patients with cfh (134370) mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:overall course less severe compared to patients with cfh (134370) mutations | rel=r_associated | relid=0 | w=32
  2221. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:overlap with tourette syndrome (137580)
    n1=en:one patient reported (last curated november 2012) | n2=en:overlap with tourette syndrome (137580) | rel=r_associated | relid=0 | w=32
  2222. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:overlapping features of digeorge syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:overlapping features of digeorge syndrome | rel=r_associated | relid=0 | w=32
  2223. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:pain tends to occur later in the day
    n1=en:one patient reported (last curated november 2012) | n2=en:pain tends to occur later in the day | rel=r_associated | relid=0 | w=32
  2224. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:pathogenic alleles contain 71 to 1,300 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:pathogenic alleles contain 71 to 1,300 repeats | rel=r_associated | relid=0 | w=32
  2225. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patient b had a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:patient b had a more severe phenotype | rel=r_associated | relid=0 | w=32
  2226. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patient satisfaction with healthcare delivery:score:pt:^patient:qn
    n1=en:one patient reported (last curated november 2012) | n2=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | rel=r_associated | relid=0 | w=32
  2227. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients achieve ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:patients achieve ambulation | rel=r_associated | relid=0 | w=32
  2228. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients become wheelchair-bound about 10 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:patients become wheelchair-bound about 10 years after onset | rel=r_associated | relid=0 | w=32
  2229. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2230. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients may be asymptomatic, but are at risk for metabolic decompensation
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may be asymptomatic, but are at risk for metabolic decompensation | rel=r_associated | relid=0 | w=32
  2231. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients may have seizures only, dyskinesia only, or both
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may have seizures only, dyskinesia only, or both | rel=r_associated | relid=0 | w=32
  2232. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients may show intermittent signs of improvement
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may show intermittent signs of improvement | rel=r_associated | relid=0 | w=32
  2233. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients often become wheelchair-bound 3 to 4 decades after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:patients often become wheelchair-bound 3 to 4 decades after onset | rel=r_associated | relid=0 | w=32
  2234. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients present with groin pain
    n1=en:one patient reported (last curated november 2012) | n2=en:patients present with groin pain | rel=r_associated | relid=0 | w=32
  2235. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients show sorbitol and glycerol intolerance
    n1=en:one patient reported (last curated november 2012) | n2=en:patients show sorbitol and glycerol intolerance | rel=r_associated | relid=0 | w=32
  2236. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2237. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients with homozygous mutations have a more severe disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with homozygous mutations have a more severe disorder | rel=r_associated | relid=0 | w=32
  2238. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients with medication-resistant hypertension require bilateral adrenalectomy
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with medication-resistant hypertension require bilateral adrenalectomy | rel=r_associated | relid=0 | w=32
  2239. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:one patient reported (last curated november 2012) | 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=32
  2240. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2241. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:penetrance estimated to be 80%
    n1=en:one patient reported (last curated november 2012) | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=32
  2242. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | rel=r_associated | relid=0 | w=32
  2243. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:perinatal death
    n1=en:one patient reported (last curated november 2012) | n2=en:perinatal death | rel=r_associated | relid=0 | w=32
  2244. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:persistence of febrile seizures beyond age 6 years
    n1=en:one patient reported (last curated november 2012) | n2=en:persistence of febrile seizures beyond age 6 years | rel=r_associated | relid=0 | w=32
  2245. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | rel=r_associated | relid=0 | w=32
  2246. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with cytochrome c oxidase deficiency (220110)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | rel=r_associated | relid=0 | w=32
  2247. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> 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:one patient reported (last curated november 2012) | 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=32
  2248. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap
    n1=en:one patient reported (last curated november 2012) | n2=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | rel=r_associated | relid=0 | w=32
  2249. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:polyhydramnios
    n1=en:one patient reported (last curated november 2012) | n2=en:polyhydramnios | rel=r_associated | relid=0 | w=32
  2250. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:possible autosomal dominant (165199) and autosomal recessive (258650) forms
    n1=en:one patient reported (last curated november 2012) | n2=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | rel=r_associated | relid=0 | w=32
  2251. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol
    n1=en:one patient reported (last curated november 2012) | n2=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | rel=r_associated | relid=0 | w=32
  2252. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:predominantly occurs in young males with a high rate of atopic disease
    n1=en:one patient reported (last curated november 2012) | n2=en:predominantly occurs in young males with a high rate of atopic disease | rel=r_associated | relid=0 | w=32
  2253. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:present in infancy in all affected individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:present in infancy in all affected individuals | rel=r_associated | relid=0 | w=32
  2254. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:presentation in childhood includes waddling gait and knee pain/stiffness
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation in childhood includes waddling gait and knee pain/stiffness | rel=r_associated | relid=0 | w=32
  2255. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia
    n1=en:one patient reported (last curated november 2012) | n2=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | rel=r_associated | relid=0 | w=32
  2256. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:presents at a later stage than sporadic wilms tumor
    n1=en:one patient reported (last curated november 2012) | n2=en:presents at a later stage than sporadic wilms tumor | rel=r_associated | relid=0 | w=32
  2257. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence in finland is 1 in 25,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in finland is 1 in 25,000 | rel=r_associated | relid=0 | w=32
  2258. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence in taiwan is 1 in 132,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in taiwan is 1 in 132,000 | rel=r_associated | relid=0 | w=32
  2259. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 10,000 caucasians
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 10,000 caucasians | rel=r_associated | relid=0 | w=32
  2260. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 150,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 150,000 | rel=r_associated | relid=0 | w=32
  2261. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 240 zuni indians
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 240 zuni indians | rel=r_associated | relid=0 | w=32
  2262. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 3,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 3,000 | rel=r_associated | relid=0 | w=32
  2263. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 300,000 in quebec
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 300,000 in quebec | rel=r_associated | relid=0 | w=32
  2264. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:prevalence of 19 in 1,000,000 in sweden
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 19 in 1,000,000 in sweden | rel=r_associated | relid=0 | w=32
  2265. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)
    n1=en:one patient reported (last curated november 2012) | 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=32
  2266. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:progressive disease
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disease | rel=r_associated | relid=0 | w=32
  2267. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:progressive disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disorder | rel=r_associated | relid=0 | w=32
  2268. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:progressive disorder that may become stable in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disorder that may become stable in young adulthood | rel=r_associated | relid=0 | w=32
  2269. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:progressive, with full manifestations at puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive, with full manifestations at puberty | rel=r_associated | relid=0 | w=32
  2270. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:range of onset 11 to 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:range of onset 11 to 50 years | rel=r_associated | relid=0 | w=32
  2271. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:rapidly progressive course
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive course | rel=r_associated | relid=0 | w=32
  2272. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:rapidly progressive neonatal onset with early death
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive neonatal onset with early death | rel=r_associated | relid=0 | w=32
  2273. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:rarely produces clinical jaundice
    n1=en:one patient reported (last curated november 2012) | n2=en:rarely produces clinical jaundice | rel=r_associated | relid=0 | w=32
  2274. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:recurrence of symptoms after cholecystectomy
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrence of symptoms after cholecystectomy | rel=r_associated | relid=0 | w=32
  2275. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:recurrent acute episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent acute episodes | rel=r_associated | relid=0 | w=32
  2276. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:repeat is unstable if > 52 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:repeat is unstable if > 52 repeats | rel=r_associated | relid=0 | w=32
  2277. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:reported cases all sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:reported cases all sporadic | rel=r_associated | relid=0 | w=32
  2278. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:reported in individuals of french canadian origin
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in individuals of french canadian origin | rel=r_associated | relid=0 | w=32
  2279. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:rickets and premature primary tooth loss occur in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:rickets and premature primary tooth loss occur in childhood | rel=r_associated | relid=0 | w=32
  2280. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:risk of sudden death due to cardiac defects
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of sudden death due to cardiac defects | rel=r_associated | relid=0 | w=32
  2281. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:secondary tumors develop within the skin lesions
    n1=en:one patient reported (last curated november 2012) | n2=en:secondary tumors develop within the skin lesions | rel=r_associated | relid=0 | w=32
  2282. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)
    n1=en:one patient reported (last curated november 2012) | n2=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | rel=r_associated | relid=0 | w=32
  2283. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:see also autosomal dominant peoa1 (157640)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant peoa1 (157640) | rel=r_associated | relid=0 | w=32
  2284. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:see also autosomal form, 146450, and another x-linked form, 300758
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal form, 146450, and another x-linked form, 300758 | rel=r_associated | relid=0 | w=32
  2285. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=32
  2286. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:see also autosomal recessive robinow syndrome (268310)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal recessive robinow syndrome (268310) | rel=r_associated | relid=0 | w=32
  2287. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:see also simplex eb with pyloric atresia (612138)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also simplex eb with pyloric atresia (612138) | rel=r_associated | relid=0 | w=32
  2288. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:seizures are responsive to pyridoxine treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are responsive to pyridoxine treatment | rel=r_associated | relid=0 | w=32
  2289. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:seizures are usually intractable
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are usually intractable | rel=r_associated | relid=0 | w=32
  2290. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:seizures are usually refractory at first
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are usually refractory at first | rel=r_associated | relid=0 | w=32
  2291. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:seizures easily controlled by medications
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures easily controlled by medications | rel=r_associated | relid=0 | w=32
  2292. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=32
  2293. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=32
  2294. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2295. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=32
  2296. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=32
  2297. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=32
  2298. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:severe clinical course
    n1=en:one patient reported (last curated november 2012) | n2=en:severe clinical course | rel=r_associated | relid=0 | w=32
  2299. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:severe phenotype onset - neonate
    n1=en:one patient reported (last curated november 2012) | n2=en:severe phenotype onset - neonate | rel=r_associated | relid=0 | w=32
  2300. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:short limbs become more apparent during childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:short limbs become more apparent during childhood | rel=r_associated | relid=0 | w=32
  2301. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:sib a developed symptoms after routine mmr vaccination
    n1=en:one patient reported (last curated november 2012) | n2=en:sib a developed symptoms after routine mmr vaccination | rel=r_associated | relid=0 | w=32
  2302. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:similar clinical phenotype to edsiii (130020)
    n1=en:one patient reported (last curated november 2012) | n2=en:similar clinical phenotype to edsiii (130020) | rel=r_associated | relid=0 | w=32
  2303. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) | rel=r_associated | relid=0 | w=32
  2304. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:skin blistering and photosensitivity improve in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:skin blistering and photosensitivity improve in adulthood | rel=r_associated | relid=0 | w=32
  2305. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:skin lesions on back, face, nape of neck, and waist tend to be mild
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions on back, face, nape of neck, and waist tend to be mild | rel=r_associated | relid=0 | w=32
  2306. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:skin neoplasia may appear later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:skin neoplasia may appear later in life | rel=r_associated | relid=0 | w=32
  2307. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:slight male predominance (3:2)
    n1=en:one patient reported (last curated november 2012) | n2=en:slight male predominance (3:2) | rel=r_associated | relid=0 | w=32
  2308. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:slowly progressive disease
    n1=en:one patient reported (last curated november 2012) | n2=en:slowly progressive disease | rel=r_associated | relid=0 | w=32
  2309. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003)
    n1=en:one patient reported (last curated november 2012) | n2=en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) | rel=r_associated | relid=0 | w=32
  2310. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some families have axonal cmt (cmt2m)
    n1=en:one patient reported (last curated november 2012) | n2=en:some families have axonal cmt (cmt2m) | rel=r_associated | relid=0 | w=32
  2311. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some females are affected
    n1=en:one patient reported (last curated november 2012) | n2=en:some females are affected | rel=r_associated | relid=0 | w=32
  2312. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some individuals may be clinically asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:some individuals may be clinically asymptomatic | rel=r_associated | relid=0 | w=32
  2313. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some mutation carriers have mild features of frontonasal dysplasia (613451)
    n1=en:one patient reported (last curated november 2012) | n2=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | rel=r_associated | relid=0 | w=32
  2314. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients carry heterozygous mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients carry heterozygous mutations | rel=r_associated | relid=0 | w=32
  2315. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients develop diabetes mellitus as adolescents
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients develop diabetes mellitus as adolescents | rel=r_associated | relid=0 | w=32
  2316. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients develop ophthalmoplegia in middle age
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients develop ophthalmoplegia in middle age | rel=r_associated | relid=0 | w=32
  2317. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients do not achieve independent ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not achieve independent ambulation | rel=r_associated | relid=0 | w=32
  2318. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients have no manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have no manifestations | rel=r_associated | relid=0 | w=32
  2319. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | rel=r_associated | relid=0 | w=32
  2320. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2321. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients may show response to immunosuppressive agents
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may show response to immunosuppressive agents | rel=r_associated | relid=0 | w=32
  2322. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients never gain ambulation or become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients never gain ambulation or become wheelchair-bound | rel=r_associated | relid=0 | w=32
  2323. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:some patients show delayed development from birth
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show delayed development from birth | rel=r_associated | relid=0 | w=32
  2324. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> 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:one patient reported (last curated november 2012) | 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=32
  2325. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:spontaneous resolution by 12 months of age with no recurrence later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous resolution by 12 months of age with no recurrence later in life | rel=r_associated | relid=0 | w=32
  2326. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:sporadic cases often single lesions versus multiple lesions in familial cases
    n1=en:one patient reported (last curated november 2012) | n2=en:sporadic cases often single lesions versus multiple lesions in familial cases | rel=r_associated | relid=0 | w=32
  2327. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:stage ii, rapid developmental regression (onset 1-4 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:stage ii, rapid developmental regression (onset 1-4 years) | rel=r_associated | relid=0 | w=32
  2328. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:striking intrafamilial variability
    n1=en:one patient reported (last curated november 2012) | n2=en:striking intrafamilial variability | rel=r_associated | relid=0 | w=32
  2329. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:successful treatment with oral isotretinoin
    n1=en:one patient reported (last curated november 2012) | n2=en:successful treatment with oral isotretinoin | rel=r_associated | relid=0 | w=32
  2330. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=32
  2331. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:survival 30 to 40 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:survival 30 to 40 years after onset | rel=r_associated | relid=0 | w=32
  2332. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:swelling starts to fade by age 30 years and gradually becomes unremarkable
    n1=en:one patient reported (last curated november 2012) | n2=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | rel=r_associated | relid=0 | w=32
  2333. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:symptoms present as acute metabolic and clinical decompensation associated with infection
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms present as acute metabolic and clinical decompensation associated with infection | rel=r_associated | relid=0 | w=32
  2334. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:symptoms vary according to location of tumor
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms vary according to location of tumor | rel=r_associated | relid=0 | w=32
  2335. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:systemic iron overload due to ineffective erythropoiesis
    n1=en:one patient reported (last curated november 2012) | n2=en:systemic iron overload due to ineffective erythropoiesis | rel=r_associated | relid=0 | w=32
  2336. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:the characteristic changes in the spine resolve by adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:the characteristic changes in the spine resolve by adolescence | rel=r_associated | relid=0 | w=32
  2337. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | rel=r_associated | relid=0 | w=32
  2338. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771
    n1=en:one patient reported (last curated november 2012) | n2=en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 | rel=r_associated | relid=0 | w=32
  2339. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:this patient died at age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:this patient died at age 2 years | rel=r_associated | relid=0 | w=32
  2340. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:three forms of cjd: acquired (including variant), sporadic, and inherited
    n1=en:one patient reported (last curated november 2012) | n2=en:three forms of cjd: acquired (including variant), sporadic, and inherited | rel=r_associated | relid=0 | w=32
  2341. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:three patients from 2 unrelated families have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients from 2 unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=32
  2342. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:three types of cystinosis are recognized
    n1=en:one patient reported (last curated november 2012) | n2=en:three types of cystinosis are recognized | rel=r_associated | relid=0 | w=32
  2343. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:three unrelated patients have been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=32
  2344. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:trauma may accelerate symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:trauma may accelerate symptoms | rel=r_associated | relid=0 | w=32
  2345. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:trauma, anxiety, and/or stress can precipitate or aggravate edema
    n1=en:one patient reported (last curated november 2012) | n2=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | rel=r_associated | relid=0 | w=32
  2346. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:triggered by minor head trauma
    n1=en:one patient reported (last curated november 2012) | n2=en:triggered by minor head trauma | rel=r_associated | relid=0 | w=32
  2347. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:twelve or more lesions per eye in individuals over 60 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:twelve or more lesions per eye in individuals over 60 years of age | rel=r_associated | relid=0 | w=32
  2348. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> 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:one patient reported (last curated november 2012) | 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=32
  2349. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two families have been reported (last curated december 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=32
  2350. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two families have been reported (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=32
  2351. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two main presentations
    n1=en:one patient reported (last curated november 2012) | n2=en:two main presentations | rel=r_associated | relid=0 | w=32
  2352. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two patients from 1 italian family have been reported (as of april 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients from 1 italian family have been reported (as of april 2010) | rel=r_associated | relid=0 | w=32
  2353. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=32
  2354. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=32
  2355. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=32
  2356. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32
  2357. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated june 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=32
  2358. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients with epileptic encephalopathy have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients with epileptic encephalopathy have been reported | rel=r_associated | relid=0 | w=32
  2359. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)
    n1=en:one patient reported (last curated november 2012) | n2=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | rel=r_associated | relid=0 | w=32
  2360. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:type 1 porencephaly is usually unilateral and results from destructive lesions
    n1=en:one patient reported (last curated november 2012) | n2=en:type 1 porencephaly is usually unilateral and results from destructive lesions | rel=r_associated | relid=0 | w=32
  2361. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:type 2a is characterized by deficiency of high molecular weight monomers
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2a is characterized by deficiency of high molecular weight monomers | rel=r_associated | relid=0 | w=32
  2362. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:type i has most severe manifestations by age 4-5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:type i has most severe manifestations by age 4-5 years | rel=r_associated | relid=0 | w=32
  2363. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:type ii is adult-onset (kanzaki disease, 609242)
    n1=en:one patient reported (last curated november 2012) | n2=en:type ii is adult-onset (kanzaki disease, 609242) | rel=r_associated | relid=0 | w=32
  2364. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> 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:one patient reported (last curated november 2012) | 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=32
  2365. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:u.s. frequency higher in blacks than whites
    n1=en:one patient reported (last curated november 2012) | n2=en:u.s. frequency higher in blacks than whites | rel=r_associated | relid=0 | w=32
  2366. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | 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=32
  2367. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:ultrasound detection in second trimester of pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:ultrasound detection in second trimester of pregnancy | rel=r_associated | relid=0 | w=32
  2368. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | rel=r_associated | relid=0 | w=32
  2369. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:usually death in utero or rarely in neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:usually death in utero or rarely in neonatal period | rel=r_associated | relid=0 | w=32
  2370. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:usually fatal by age 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:usually fatal by age 5 years | rel=r_associated | relid=0 | w=32
  2371. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:usually fatal in first 2 decades
    n1=en:one patient reported (last curated november 2012) | n2=en:usually fatal in first 2 decades | rel=r_associated | relid=0 | w=32
  2372. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  2373. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variability in age of onset and severity of disease
    n1=en:one patient reported (last curated november 2012) | n2=en:variability in age of onset and severity of disease | rel=r_associated | relid=0 | w=32
  2374. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (childhood to adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (childhood to adulthood) | rel=r_associated | relid=0 | w=32
  2375. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range 15 to 60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 15 to 60 years) | rel=r_associated | relid=0 | w=32
  2376. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range adolescence to late adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range adolescence to late adulthood) | rel=r_associated | relid=0 | w=32
  2377. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range childhood to adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range childhood to adulthood) | rel=r_associated | relid=0 | w=32
  2378. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range first to third decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range first to third decade) | rel=r_associated | relid=0 | w=32
  2379. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range teenage to adult years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range teenage to adult years) | rel=r_associated | relid=0 | w=32
  2380. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset of neuropathy (range first to sixth decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset of neuropathy (range first to sixth decade) | rel=r_associated | relid=0 | w=32
  2381. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset, first to second decades
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, first to second decades | rel=r_associated | relid=0 | w=32
  2382. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients | rel=r_associated | relid=0 | w=32
  2383. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age of onset (childhood to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (childhood to adult) | rel=r_associated | relid=0 | w=32
  2384. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age of onset (range 1 to 30 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (range 1 to 30 years) | rel=r_associated | relid=0 | w=32
  2385. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable age of onset of parkinsonism (first decade to adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset of parkinsonism (first decade to adulthood) | rel=r_associated | relid=0 | w=32
  2386. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable expression of features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expression of features | rel=r_associated | relid=0 | w=32
  2387. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable expressivity of each feature
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expressivity of each feature | rel=r_associated | relid=0 | w=32
  2388. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable frequency (weekly to yearly)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable frequency (weekly to yearly) | rel=r_associated | relid=0 | w=32
  2389. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable phenotype (range from completely female to males with mild undermasculinization)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype (range from completely female to males with mild undermasculinization) | rel=r_associated | relid=0 | w=32
  2390. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable phenotype ranging from woolly to sparse hair, even within a single family
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype ranging from woolly to sparse hair, even within a single family | rel=r_associated | relid=0 | w=32
  2391. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable phenotypic expression
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotypic expression | rel=r_associated | relid=0 | w=32
  2392. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable phenotypic expression within same individual in each eye (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotypic expression within same individual in each eye (in some patients) | rel=r_associated | relid=0 | w=32
  2393. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable presentation of clinical features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable presentation of clinical features | rel=r_associated | relid=0 | w=32
  2394. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable severity of phenotype and other features may be present
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity of phenotype and other features may be present | rel=r_associated | relid=0 | w=32
  2395. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | rel=r_associated | relid=0 | w=32
  2396. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior
    n1=en:one patient reported (last curated november 2012) | n2=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | rel=r_associated | relid=0 | w=32
  2397. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:very rare
    n1=en:one patient reported (last curated november 2012) | n2=en:very rare | rel=r_associated | relid=0 | w=32
  2398. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:warm weather and alcohol are alleviating factors
    n1=en:one patient reported (last curated november 2012) | n2=en:warm weather and alcohol are alleviating factors | rel=r_associated | relid=0 | w=32
  2399. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:waxing and waning cardiomyopathy (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:waxing and waning cardiomyopathy (in some patients) | rel=r_associated | relid=0 | w=32
  2400. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:weakness during pregnancy in some affected females has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=32
  2401. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:wheelchair-bound after 2 decades of disease onset
    n1=en:one patient reported (last curated november 2012) | n2=en:wheelchair-bound after 2 decades of disease onset | rel=r_associated | relid=0 | w=32
  2402. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:wide phenotypic variability
    n1=en:one patient reported (last curated november 2012) | n2=en:wide phenotypic variability | rel=r_associated | relid=0 | w=32
  2403. en:one patient reported (last curated november 2012) -- r_associated #0: 32 / 0.744 -> en:younger onset rarely reported
    n1=en:one patient reported (last curated november 2012) | n2=en:younger onset rarely reported | rel=r_associated | relid=0 | w=32
  2404. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:(2) intermittent
    n1=en:one patient reported (last curated november 2012) | n2=en:(2) intermittent | rel=r_associated | relid=0 | w=31
  2405. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:1 in 50,000 in korea
    n1=en:one patient reported (last curated november 2012) | n2=en:1 in 50,000 in korea | rel=r_associated | relid=0 | w=31
  2406. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:14% of patients survive with polyhydramnios
    n1=en:one patient reported (last curated november 2012) | n2=en:14% of patients survive with polyhydramnios | rel=r_associated | relid=0 | w=31
  2407. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430)
    n1=en:one patient reported (last curated november 2012) | n2=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | rel=r_associated | relid=0 | w=31
  2408. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:50% of females have learning disability or mild mental retardation
    n1=en:one patient reported (last curated november 2012) | n2=en:50% of females have learning disability or mild mental retardation | rel=r_associated | relid=0 | w=31
  2409. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:a second patient died at age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:a second patient died at age 3 years | rel=r_associated | relid=0 | w=31
  2410. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:a subset of patients improve with thiamine
    n1=en:one patient reported (last curated november 2012) | n2=en:a subset of patients improve with thiamine | rel=r_associated | relid=0 | w=31
  2411. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:about 8% of female mutation carriers develop dilated cardiomyopathy
    n1=en:one patient reported (last curated november 2012) | n2=en:about 8% of female mutation carriers develop dilated cardiomyopathy | rel=r_associated | relid=0 | w=31
  2412. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | rel=r_associated | relid=0 | w=31
  2413. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:absence of both inner and outer dynein arms of cilia
    n1=en:one patient reported (last curated november 2012) | n2=en:absence of both inner and outer dynein arms of cilia | rel=r_associated | relid=0 | w=31
  2414. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:absence seizures show onset between 3.5 and 4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=31
  2415. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:absence seizures usually remit by puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:absence seizures usually remit by puberty | rel=r_associated | relid=0 | w=31
  2416. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:acanthosis nigricans fades during adolescence and reappears in pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | rel=r_associated | relid=0 | w=31
  2417. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:acquired protein c deficiency seen in liver disease, dic, and following surgery
    n1=en:one patient reported (last curated november 2012) | n2=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | rel=r_associated | relid=0 | w=31
  2418. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:adult onset (37 to 57 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (37 to 57 years) | rel=r_associated | relid=0 | w=31
  2419. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:adult onset (40 to 60 years old)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (40 to 60 years old) | rel=r_associated | relid=0 | w=31
  2420. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:adult onset (45 to 76 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (45 to 76 years) | rel=r_associated | relid=0 | w=31
  2421. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:adult onset (mean of 30 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (mean of 30 years) | rel=r_associated | relid=0 | w=31
  2422. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:adult onset (range 40 to 60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 40 to 60 years) | rel=r_associated | relid=0 | w=31
  2423. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:adult onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=31
  2424. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:adult onset may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset may occur | rel=r_associated | relid=0 | w=31
  2425. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:affected males have normal pubertal development and are fertile
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males have normal pubertal development and are fertile | rel=r_associated | relid=0 | w=31
  2426. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age at diagnosis 28 +/- 18 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at diagnosis 28 +/- 18 years | rel=r_associated | relid=0 | w=31
  2427. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age at diagnosis 9 +/- 6 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at diagnosis 9 +/- 6 years | rel=r_associated | relid=0 | w=31
  2428. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age at diagnosis of cataract may range up to 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at diagnosis of cataract may range up to 40 years | rel=r_associated | relid=0 | w=31
  2429. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age at onset 14 to 44 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=31
  2430. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age at onset can range from infancy to childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset can range from infancy to childhood | rel=r_associated | relid=0 | w=31
  2431. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age at onset ranges from childhood to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=31
  2432. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age of onset 2-8 months
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 2-8 months | rel=r_associated | relid=0 | w=31
  2433. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age of onset 6-12 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 6-12 years | rel=r_associated | relid=0 | w=31
  2434. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age of onset ranges from neonate to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset ranges from neonate to adulthood | rel=r_associated | relid=0 | w=31
  2435. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:age:time:pt:^patient:qn:calculated
    n1=en:one patient reported (last curated november 2012) | n2=en:age:time:pt:^patient:qn:calculated | rel=r_associated | relid=0 | w=31
  2436. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:alcohol may alleviate symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:alcohol may alleviate symptoms | rel=r_associated | relid=0 | w=31
  2437. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:all cases have been stillborn or immediate neonatal death
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases have been stillborn or immediate neonatal death | rel=r_associated | relid=0 | w=31
  2438. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:all features are unilateral
    n1=en:one patient reported (last curated november 2012) | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=31
  2439. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:all reported mutations have occurred de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:all reported mutations have occurred de novo | rel=r_associated | relid=0 | w=31
  2440. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to adult polyglucosan body disease (263570)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to adult polyglucosan body disease (263570) | rel=r_associated | relid=0 | w=31
  2441. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=31
  2442. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | rel=r_associated | relid=0 | w=31
  2443. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to duane-radial ray syndrome (drrs, 607323)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | rel=r_associated | relid=0 | w=31
  2444. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to margarita island type of ectodermal dysplasia (225060)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | rel=r_associated | relid=0 | w=31
  2445. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | rel=r_associated | relid=0 | w=31
  2446. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to niemann-pick disease type a (257200)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to niemann-pick disease type a (257200) | rel=r_associated | relid=0 | w=31
  2447. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | rel=r_associated | relid=0 | w=31
  2448. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | rel=r_associated | relid=0 | w=31
  2449. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | rel=r_associated | relid=0 | w=31
  2450. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | rel=r_associated | relid=0 | w=31
  2451. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to the zlotogora-ogur syndrome (225000)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to the zlotogora-ogur syndrome (225000) | rel=r_associated | relid=0 | w=31
  2452. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to usher syndrome type 1f (602083)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to usher syndrome type 1f (602083) | rel=r_associated | relid=0 | w=31
  2453. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2454. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic to dentin dysplasia, type 2 (125420)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to dentin dysplasia, type 2 (125420) | rel=r_associated | relid=0 | w=31
  2455. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=31
  2456. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | rel=r_associated | relid=0 | w=31
  2457. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | rel=r_associated | relid=0 | w=31
  2458. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic to pseudoachondroplasia (177170)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to pseudoachondroplasia (177170) | rel=r_associated | relid=0 | w=31
  2459. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:allelic with retinitis pigmentosa 35 (610282)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic with retinitis pigmentosa 35 (610282) | rel=r_associated | relid=0 | w=31
  2460. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:ambulation usually not achieved
    n1=en:one patient reported (last curated november 2012) | n2=en:ambulation usually not achieved | rel=r_associated | relid=0 | w=31
  2461. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:anemia is responsive to corticosteroid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=31
  2462. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:anemia may be responsive to iron chelation treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia may be responsive to iron chelation treatment | rel=r_associated | relid=0 | w=31
  2463. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:appear normal at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:appear normal at birth | rel=r_associated | relid=0 | w=31
  2464. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:approximately 40% of patients die within newborn period
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 40% of patients die within newborn period | rel=r_associated | relid=0 | w=31
  2465. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:approximately 50db loss in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 50db loss in adulthood | rel=r_associated | relid=0 | w=31
  2466. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:approximately half of cases are due to de novo deletions
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately half of cases are due to de novo deletions | rel=r_associated | relid=0 | w=31
  2467. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:arrhythmias detected prenatally (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:arrhythmias detected prenatally (in some patients) | rel=r_associated | relid=0 | w=31
  2468. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:associated with iron deficiency anemia
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with iron deficiency anemia | rel=r_associated | relid=0 | w=31
  2469. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:associated with myoclonic epilepsy
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with myoclonic epilepsy | rel=r_associated | relid=0 | w=31
  2470. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:associated with smoking
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with smoking | rel=r_associated | relid=0 | w=31
  2471. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> 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:one patient reported (last curated november 2012) | 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=31
  2472. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:association with autoimmune diseases
    n1=en:one patient reported (last curated november 2012) | n2=en:association with autoimmune diseases | rel=r_associated | relid=0 | w=31
  2473. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:asymptomatic if papillary zone is spared
    n1=en:one patient reported (last curated november 2012) | n2=en:asymptomatic if papillary zone is spared | rel=r_associated | relid=0 | w=31
  2474. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:ataxia is slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:ataxia is slowly progressive | rel=r_associated | relid=0 | w=31
  2475. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:attacks tend to decrease with age
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks tend to decrease with age | rel=r_associated | relid=0 | w=31
  2476. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later
    n1=en:one patient reported (last curated november 2012) | n2=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | rel=r_associated | relid=0 | w=31
  2477. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:autosomal dominant inheritance has been reported in a single family
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant inheritance has been reported in a single family | rel=r_associated | relid=0 | w=31
  2478. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive and dominant pedigrees described
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive and dominant pedigrees described | rel=r_associated | relid=0 | w=31
  2479. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive cytochrome b-positive cgd, type i (233700)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | rel=r_associated | relid=0 | w=31
  2480. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has been reported | rel=r_associated | relid=0 | w=31
  2481. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance has been reported (see 601253.0010)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has been reported (see 601253.0010) | rel=r_associated | relid=0 | w=31
  2482. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance with earlier onset has been reported in 3 patients
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=31
  2483. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive omodysplasia has also been described (258315)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive omodysplasia has also been described (258315) | rel=r_associated | relid=0 | w=31
  2484. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:average age at onset 19 years (range 5 to 38)
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset 19 years (range 5 to 38) | rel=r_associated | relid=0 | w=31
  2485. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:average age of onset 6 months (range birth - 2 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:average age of onset 6 months (range birth - 2 years) | rel=r_associated | relid=0 | w=31
  2486. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on 2 reported patients (last curated january 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 reported patients (last curated january 2013) | rel=r_associated | relid=0 | w=31
  2487. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on 2 unrelated chinese families (last curated july 2014).
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 unrelated chinese families (last curated july 2014). | rel=r_associated | relid=0 | w=31
  2488. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2489. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on one large dutch family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2490. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on report of 1 consanguineous turkish family (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 consanguineous turkish family (last curated june 2014) | rel=r_associated | relid=0 | w=31
  2491. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on report of 1 large dutch pedigree (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 large dutch pedigree (last curated july 2015) | rel=r_associated | relid=0 | w=31
  2492. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2493. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on report of 2 turkish sisters (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 turkish sisters (last curated july 2015) | rel=r_associated | relid=0 | w=31
  2494. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:based on report of one consanguineous kuwaiti family (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | rel=r_associated | relid=0 | w=31
  2495. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:birth incidence approximately 5.1 per million live births
    n1=en:one patient reported (last curated november 2012) | n2=en:birth incidence approximately 5.1 per million live births | rel=r_associated | relid=0 | w=31
  2496. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy'
    n1=en:one patient reported (last curated november 2012) | 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=31
  2497. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:can also be caused by contiguous gene deletion on chromosome 22q11.2
    n1=en:one patient reported (last curated november 2012) | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=31
  2498. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:can be slowly or rapidly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:can be slowly or rapidly progressive | rel=r_associated | relid=0 | w=31
  2499. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:capillary malformation are apparent at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:capillary malformation are apparent at birth | rel=r_associated | relid=0 | w=31
  2500. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:carcinomas tend to develop in mid or late adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:carcinomas tend to develop in mid or late adulthood | rel=r_associated | relid=0 | w=31
  2501. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:cardiac features are observed in ~3% of cases
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiac features are observed in ~3% of cases | rel=r_associated | relid=0 | w=31
  2502. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:cardiac involvement occurs between 5 and 12 years
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiac involvement occurs between 5 and 12 years | rel=r_associated | relid=0 | w=31
  2503. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:cardiomyopathy is not a feature
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=31
  2504. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:carnitine supplementation can prevent further episodes and declines in cardiac function
    n1=en:one patient reported (last curated november 2012) | n2=en:carnitine supplementation can prevent further episodes and declines in cardiac function | rel=r_associated | relid=0 | w=31
  2505. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:carrier females are normal
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females are normal | rel=r_associated | relid=0 | w=31
  2506. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome
    n1=en:one patient reported (last curated november 2012) | 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=31
  2507. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:cataracts may be subclinical in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:cataracts may be subclinical in some patients | rel=r_associated | relid=0 | w=31
  2508. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:caused by somatic mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by somatic mutations | rel=r_associated | relid=0 | w=31
  2509. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects
    n1=en:one patient reported (last curated november 2012) | n2=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | rel=r_associated | relid=0 | w=31
  2510. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:chronic course with exacerbations and remissions
    n1=en:one patient reported (last curated november 2012) | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=31
  2511. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:classic severe form shows onset at 2 to 3 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=31
  2512. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:clinical and biochemical abnormalities improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical and biochemical abnormalities improve with age | rel=r_associated | relid=0 | w=31
  2513. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | rel=r_associated | relid=0 | w=31
  2514. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:clinical features based on 1 reported family (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical features based on 1 reported family (last curated august 2013) | rel=r_associated | relid=0 | w=31
  2515. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:clinical improvement after 2 to 3 weeks of supportive care
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical improvement after 2 to 3 weeks of supportive care | rel=r_associated | relid=0 | w=31
  2516. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:clinically unaffected heterozygotes may show changes on electroretinography
    n1=en:one patient reported (last curated november 2012) | n2=en:clinically unaffected heterozygotes may show changes on electroretinography | rel=r_associated | relid=0 | w=31
  2517. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:color vision defects may not be part of the phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=31
  2518. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:considered to be a variant of gaucher disease type iii (231000)
    n1=en:one patient reported (last curated november 2012) | n2=en:considered to be a variant of gaucher disease type iii (231000) | rel=r_associated | relid=0 | w=31
  2519. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:contractures most severe by midadolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:contractures most severe by midadolescence | rel=r_associated | relid=0 | w=31
  2520. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:corneal diameter decreases with decreasing axial length
    n1=en:one patient reported (last curated november 2012) | n2=en:corneal diameter decreases with decreasing axial length | rel=r_associated | relid=0 | w=31
  2521. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis
    n1=en:one patient reported (last curated november 2012) | n2=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | rel=r_associated | relid=0 | w=31
  2522. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:de novo mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutation | rel=r_associated | relid=0 | w=31
  2523. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:deafness is presenting symptom
    n1=en:one patient reported (last curated november 2012) | n2=en:deafness is presenting symptom | rel=r_associated | relid=0 | w=31
  2524. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death at 20 to 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death at 20 to 40 years | rel=r_associated | relid=0 | w=31
  2525. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death at birth or within first 2 years of life (severe form)
    n1=en:one patient reported (last curated november 2012) | n2=en:death at birth or within first 2 years of life (severe form) | rel=r_associated | relid=0 | w=31
  2526. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death by age 2 years | rel=r_associated | relid=0 | w=31
  2527. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death in early infancy (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:death in early infancy (in some patients) | rel=r_associated | relid=0 | w=31
  2528. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death in infancy due to hyperthermia or apnea
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy due to hyperthermia or apnea | rel=r_associated | relid=0 | w=31
  2529. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death in neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:death in neonatal period | rel=r_associated | relid=0 | w=31
  2530. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death in the first months or years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death in the first months or years of life | rel=r_associated | relid=0 | w=31
  2531. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death in untreated children
    n1=en:one patient reported (last curated november 2012) | n2=en:death in untreated children | rel=r_associated | relid=0 | w=31
  2532. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death often secondary to infectious disease
    n1=en:one patient reported (last curated november 2012) | n2=en:death often secondary to infectious disease | rel=r_associated | relid=0 | w=31
  2533. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death secondary to renal failure, cardiac or cerebrovascular disease
    n1=en:one patient reported (last curated november 2012) | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=31
  2534. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death usually in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in early childhood | rel=r_associated | relid=0 | w=31
  2535. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death usually in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in infancy or early childhood | rel=r_associated | relid=0 | w=31
  2536. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:death usually in newborn period or infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=31
  2537. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:decrease in seizure frequency in middle age
    n1=en:one patient reported (last curated november 2012) | n2=en:decrease in seizure frequency in middle age | rel=r_associated | relid=0 | w=31
  2538. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:delta-f508 present in 70% of alleles
    n1=en:one patient reported (last curated november 2012) | n2=en:delta-f508 present in 70% of alleles | rel=r_associated | relid=0 | w=31
  2539. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:detected in 1/50,000 in neonatal screening programs
    n1=en:one patient reported (last curated november 2012) | n2=en:detected in 1/50,000 in neonatal screening programs | rel=r_associated | relid=0 | w=31
  2540. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:diagnosis made if 3/7 defects are present
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis made if 3/7 defects are present | rel=r_associated | relid=0 | w=31
  2541. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:diagnosis typically between age 10-20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis typically between age 10-20 years | rel=r_associated | relid=0 | w=31
  2542. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:diarrhea persists even with vigorous nursing
    n1=en:one patient reported (last curated november 2012) | n2=en:diarrhea persists even with vigorous nursing | rel=r_associated | relid=0 | w=31
  2543. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:diarrhea worsens in parallel with increases in severity of skin disease
    n1=en:one patient reported (last curated november 2012) | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=31
  2544. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:discordant phenotype among monozygotic twins has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=31
  2545. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:disease complicated by recurrent sepsis in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:disease complicated by recurrent sepsis in some patients | rel=r_associated | relid=0 | w=31
  2546. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:disease is life-threatening if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:disease is life-threatening if untreated | rel=r_associated | relid=0 | w=31
  2547. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:disease usually progresses in a cephalocaudal direction
    n1=en:one patient reported (last curated november 2012) | n2=en:disease usually progresses in a cephalocaudal direction | rel=r_associated | relid=0 | w=31
  2548. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline
    n1=en:one patient reported (last curated november 2012) | 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=31
  2549. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:distinct from pili annulati (180600)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct from pili annulati (180600) | rel=r_associated | relid=0 | w=31
  2550. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:distribution of lesions may be generalized, palmoplantar, or acral
    n1=en:one patient reported (last curated november 2012) | n2=en:distribution of lesions may be generalized, palmoplantar, or acral | rel=r_associated | relid=0 | w=31
  2551. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:drug-induced dyskinesias occur in a subset of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=31
  2552. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:dysmorphic facial features reported in 1 family
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic facial features reported in 1 family | rel=r_associated | relid=0 | w=31
  2553. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:early age of onset (approximately 45 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:early age of onset (approximately 45 years) | rel=r_associated | relid=0 | w=31
  2554. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:early childhood onset (before age 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:early childhood onset (before age 5 years) | rel=r_associated | relid=0 | w=31
  2555. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:early death due to sepsis
    n1=en:one patient reported (last curated november 2012) | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=31
  2556. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:early death in early adulthood often associated with diverticulitis and intestinal perforation
    n1=en:one patient reported (last curated november 2012) | n2=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | rel=r_associated | relid=0 | w=31
  2557. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | rel=r_associated | relid=0 | w=31
  2558. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration
    n1=en:one patient reported (last curated november 2012) | 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=31
  2559. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:episodes are followed by exhaustion and sleep
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes are followed by exhaustion and sleep | rel=r_associated | relid=0 | w=31
  2560. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:episodes usually last 1 to 2 days
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes usually last 1 to 2 days | rel=r_associated | relid=0 | w=31
  2561. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:facial dysmorphic features are mild
    n1=en:one patient reported (last curated november 2012) | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=31
  2562. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965)
    n1=en:one patient reported (last curated november 2012) | n2=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | rel=r_associated | relid=0 | w=31
  2563. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:favorable response of episodic attacks to acetazolamide
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response of episodic attacks to acetazolamide | rel=r_associated | relid=0 | w=31
  2564. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:favorable response to anticonvulsants
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to anticonvulsants | rel=r_associated | relid=0 | w=31
  2565. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:favorable response to bh4 therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to bh4 therapy | rel=r_associated | relid=0 | w=31
  2566. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:favorable response to rituxan (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to rituxan (in some patients) | rel=r_associated | relid=0 | w=31
  2567. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:favorable response to treatment with cholinesterase inhibitors or amifampridine
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | rel=r_associated | relid=0 | w=31
  2568. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:favorable response to treatment with minocycline or azithromycin
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to treatment with minocycline or azithromycin | rel=r_associated | relid=0 | w=31
  2569. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:features occur episodically
    n1=en:one patient reported (last curated november 2012) | n2=en:features occur episodically | rel=r_associated | relid=0 | w=31
  2570. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)
    n1=en:one patient reported (last curated november 2012) | n2=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | rel=r_associated | relid=0 | w=31
  2571. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:febrile seizures remit by age 5 or 6
    n1=en:one patient reported (last curated november 2012) | n2=en:febrile seizures remit by age 5 or 6 | rel=r_associated | relid=0 | w=31
  2572. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:female carriers may show mild learning disabilities
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may show mild learning disabilities | rel=r_associated | relid=0 | w=31
  2573. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:female mutation carriers are less severely affected than male mutation carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:female mutation carriers are less severely affected than male mutation carriers | rel=r_associated | relid=0 | w=31
  2574. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:female to male ratio 8-13:1
    n1=en:one patient reported (last curated november 2012) | n2=en:female to male ratio 8-13:1 | rel=r_associated | relid=0 | w=31
  2575. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:female to male ratio ranges from 2:1 to 4:1
    n1=en:one patient reported (last curated november 2012) | n2=en:female to male ratio ranges from 2:1 to 4:1 | rel=r_associated | relid=0 | w=31
  2576. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:females carriers have more variable age at onset and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:females carriers have more variable age at onset and severity | rel=r_associated | relid=0 | w=31
  2577. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:fetal death
    n1=en:one patient reported (last curated november 2012) | n2=en:fetal death | rel=r_associated | relid=0 | w=31
  2578. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:fetal death usually occurs
    n1=en:one patient reported (last curated november 2012) | n2=en:fetal death usually occurs | rel=r_associated | relid=0 | w=31
  2579. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:few familial (parent offspring) cases reported
    n1=en:one patient reported (last curated november 2012) | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=31
  2580. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:five patients have been reported (as of april 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:five patients have been reported (as of april 2011) | rel=r_associated | relid=0 | w=31
  2581. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:five patients reported (as of march 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:five patients reported (as of march 2009) | rel=r_associated | relid=0 | w=31
  2582. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:five unrelated cases have been reported (as of march 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:five unrelated cases have been reported (as of march 2012) | rel=r_associated | relid=0 | w=31
  2583. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:five unrelated patients have been reported (nov. 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:five unrelated patients have been reported (nov. 2009) | rel=r_associated | relid=0 | w=31
  2584. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589
    n1=en:one patient reported (last curated november 2012) | n2=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | rel=r_associated | relid=0 | w=31
  2585. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)
    n1=en:one patient reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31
  2586. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four major groups: early infantile, late infantile, juvenile, adult
    n1=en:one patient reported (last curated november 2012) | n2=en:four major groups: early infantile, late infantile, juvenile, adult | rel=r_associated | relid=0 | w=31
  2587. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four patients from 2 unrelated families have been reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 2 unrelated families have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=31
  2588. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four patients from 3 families have been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=31
  2589. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four patients from 3 unrelated families have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  2590. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four patients from 3 unrelated families have been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=31
  2591. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four unrelated patients have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31
  2592. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:four unrelated patients reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients reported (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2593. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:fracture frequency increases after menopause and in men ages 60-80
    n1=en:one patient reported (last curated november 2012) | n2=en:fracture frequency increases after menopause and in men ages 60-80 | rel=r_associated | relid=0 | w=31
  2594. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:fractures occur in first few months, then decrease in frequency and then occur with ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | rel=r_associated | relid=0 | w=31
  2595. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624)
    n1=en:one patient reported (last curated november 2012) | 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=31
  2596. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:full recovery after attacks
    n1=en:one patient reported (last curated november 2012) | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=31
  2597. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:gender-specific phenotype (homozygous men are fertile)
    n1=en:one patient reported (last curated november 2012) | n2=en:gender-specific phenotype (homozygous men are fertile) | rel=r_associated | relid=0 | w=31
  2598. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:generalized dystonia in some cases
    n1=en:one patient reported (last curated november 2012) | n2=en:generalized dystonia in some cases | rel=r_associated | relid=0 | w=31
  2599. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:generalized fatigue
    n1=en:one patient reported (last curated november 2012) | n2=en:generalized fatigue | rel=r_associated | relid=0 | w=31
  2600. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 161400)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 161400) | rel=r_associated | relid=0 | w=31
  2601. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 601680)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 601680) | rel=r_associated | relid=0 | w=31
  2602. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 604559)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 604559) | rel=r_associated | relid=0 | w=31
  2603. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see coxpd1, 609060)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see coxpd1, 609060) | rel=r_associated | relid=0 | w=31
  2604. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see npc2, 607625)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see npc2, 607625) | rel=r_associated | relid=0 | w=31
  2605. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see ofc1, 119530)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see ofc1, 119530) | rel=r_associated | relid=0 | w=31
  2606. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | rel=r_associated | relid=0 | w=31
  2607. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | rel=r_associated | relid=0 | w=31
  2608. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | rel=r_associated | relid=0 | w=31
  2609. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | rel=r_associated | relid=0 | w=31
  2610. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100)
    n1=en:one patient reported (last curated november 2012) | n2=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | rel=r_associated | relid=0 | w=31
  2611. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:gonadal mosaicism reported
    n1=en:one patient reported (last curated november 2012) | n2=en:gonadal mosaicism reported | rel=r_associated | relid=0 | w=31
  2612. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:good response to immunotherapy (intravenous igg or plasmapheresis)
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to immunotherapy (intravenous igg or plasmapheresis) | rel=r_associated | relid=0 | w=31
  2613. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:gradual progression
    n1=en:one patient reported (last curated november 2012) | n2=en:gradual progression | rel=r_associated | relid=0 | w=31
  2614. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:hair loss begins in first years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:hair loss begins in first years of life | rel=r_associated | relid=0 | w=31
  2615. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:haploinsufficiency of grn (138945)
    n1=en:one patient reported (last curated november 2012) | n2=en:haploinsufficiency of grn (138945) | rel=r_associated | relid=0 | w=31
  2616. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:headaches last hours to days
    n1=en:one patient reported (last curated november 2012) | n2=en:headaches last hours to days | rel=r_associated | relid=0 | w=31
  2617. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:hearing loss is nonprogressive
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss is nonprogressive | rel=r_associated | relid=0 | w=31
  2618. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:hearing loss occurs in late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=31
  2619. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:hearing loss was progressive in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss was progressive in some patients | rel=r_associated | relid=0 | w=31
  2620. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:heterogeneous disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:heterogeneous disorder | rel=r_associated | relid=0 | w=31
  2621. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:heterozygotes are usually asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes are usually asymptomatic | rel=r_associated | relid=0 | w=31
  2622. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets
    n1=en:one patient reported (last curated november 2012) | 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=31
  2623. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:heterozygous female carriers may manifest symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous female carriers may manifest symptoms | rel=r_associated | relid=0 | w=31
  2624. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | rel=r_associated | relid=0 | w=31
  2625. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:high frequency in equatorial africa
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in equatorial africa | rel=r_associated | relid=0 | w=31
  2626. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:high incidence among old order amish
    n1=en:one patient reported (last curated november 2012) | n2=en:high incidence among old order amish | rel=r_associated | relid=0 | w=31
  2627. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:high prevalence among individuals of portuguese descent
    n1=en:one patient reported (last curated november 2012) | n2=en:high prevalence among individuals of portuguese descent | rel=r_associated | relid=0 | w=31
  2628. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:highly variable clinical phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=31
  2629. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:highly variable expressivity within families
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable expressivity within families | rel=r_associated | relid=0 | w=31
  2630. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:highly variable frequency and duration of episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=31
  2631. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:highly variable organ involvement and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=31
  2632. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:hip replacement in early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:hip replacement in early adulthood | rel=r_associated | relid=0 | w=31
  2633. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:homozygous patients have earlier-onset and more severe disease
    n1=en:one patient reported (last curated november 2012) | n2=en:homozygous patients have earlier-onset and more severe disease | rel=r_associated | relid=0 | w=31
  2634. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion
    n1=en:one patient reported (last curated november 2012) | 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=31
  2635. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:incidence is less than 1 in 70,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence is less than 1 in 70,000 births | rel=r_associated | relid=0 | w=31
  2636. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 40,000 infants worldwide
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 40,000 infants worldwide | rel=r_associated | relid=0 | w=31
  2637. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy
    n1=en:one patient reported (last curated november 2012) | 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=31
  2638. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:incomplete penetrance in some families
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=31
  2639. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:increased frequency in ashkenazi jewish population (1/100 are carriers)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | rel=r_associated | relid=0 | w=31
  2640. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:increased prevalence among smokers
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence among smokers | rel=r_associated | relid=0 | w=31
  2641. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:increased prevalence among women
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence among women | rel=r_associated | relid=0 | w=31
  2642. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:infant death may occur secondary to sepsis
    n1=en:one patient reported (last curated november 2012) | n2=en:infant death may occur secondary to sepsis | rel=r_associated | relid=0 | w=31
  2643. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:infants may have acute life-threatening crises
    n1=en:one patient reported (last curated november 2012) | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=31
  2644. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:infants occasionally mistaken as having down syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:infants occasionally mistaken as having down syndrome | rel=r_associated | relid=0 | w=31
  2645. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800)
    n1=en:one patient reported (last curated november 2012) | n2=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | rel=r_associated | relid=0 | w=31
  2646. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:initially normal for first 6-18 months which is then followed by withdrawal and regression
    n1=en:one patient reported (last curated november 2012) | n2=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | rel=r_associated | relid=0 | w=31
  2647. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:intermittent exacerbations
    n1=en:one patient reported (last curated november 2012) | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=31
  2648. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:intolerant of heat
    n1=en:one patient reported (last curated november 2012) | n2=en:intolerant of heat | rel=r_associated | relid=0 | w=31
  2649. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:l-dopa-induced dyskinesias
    n1=en:one patient reported (last curated november 2012) | n2=en:l-dopa-induced dyskinesias | rel=r_associated | relid=0 | w=31
  2650. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:laboratory findings are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:laboratory findings are variable | rel=r_associated | relid=0 | w=31
  2651. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:last name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:last name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=31
  2652. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:late-onset, slowly progressing form of retinitis pigmentosa
    n1=en:one patient reported (last curated november 2012) | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=31
  2653. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:later onset (late childhood to young adult) has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=31
  2654. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:later onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=31
  2655. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:less than 50% penetrance in some families
    n1=en:one patient reported (last curated november 2012) | n2=en:less than 50% penetrance in some families | rel=r_associated | relid=0 | w=31
  2656. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:lethal in males
    n1=en:one patient reported (last curated november 2012) | n2=en:lethal in males | rel=r_associated | relid=0 | w=31
  2657. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:loss initially affects mid and high frequencies
    n1=en:one patient reported (last curated november 2012) | n2=en:loss initially affects mid and high frequencies | rel=r_associated | relid=0 | w=31
  2658. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:loss of independent ambulation (in 2 of 3 patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:loss of independent ambulation (in 2 of 3 patients) | rel=r_associated | relid=0 | w=31
  2659. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:loss of independent ambulation in the second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:loss of independent ambulation in the second decade | rel=r_associated | relid=0 | w=31
  2660. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:luton and torrance type differentiated based on histologic findings in cartilage
    n1=en:one patient reported (last curated november 2012) | n2=en:luton and torrance type differentiated based on histologic findings in cartilage | rel=r_associated | relid=0 | w=31
  2661. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart
    n1=en:one patient reported (last curated november 2012) | n2=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | rel=r_associated | relid=0 | w=31
  2662. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:major fluid shifts may occur in severe cases
    n1=en:one patient reported (last curated november 2012) | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=31
  2663. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:majority of patients are pyridoxine-responsive
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of patients are pyridoxine-responsive | rel=r_associated | relid=0 | w=31
  2664. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:majority of patients have normal intelligence
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=31
  2665. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:male to female ratio 4:1
    n1=en:one patient reported (last curated november 2012) | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=31
  2666. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:male-limited trait
    n1=en:one patient reported (last curated november 2012) | n2=en:male-limited trait | rel=r_associated | relid=0 | w=31
  2667. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:male-to-female ratio, 1.8 to 1
    n1=en:one patient reported (last curated november 2012) | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=31
  2668. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:males more frequently have severe lesions
    n1=en:one patient reported (last curated november 2012) | n2=en:males more frequently have severe lesions | rel=r_associated | relid=0 | w=31
  2669. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:males tend to have earlier onset than females
    n1=en:one patient reported (last curated november 2012) | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=31
  2670. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:manifestations present in second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:manifestations present in second decade of life | rel=r_associated | relid=0 | w=31
  2671. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:many become wheelchair bound
    n1=en:one patient reported (last curated november 2012) | n2=en:many become wheelchair bound | rel=r_associated | relid=0 | w=31
  2672. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:many patients die by 1-3 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients die by 1-3 years of age | rel=r_associated | relid=0 | w=31
  2673. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> 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:one patient reported (last curated november 2012) | 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=31
  2674. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)
    n1=en:one patient reported (last curated november 2012) | 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=31
  2675. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:may be lethal if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:may be lethal if untreated | rel=r_associated | relid=0 | w=31
  2676. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:may be present in asymptomatic adults
    n1=en:one patient reported (last curated november 2012) | n2=en:may be present in asymptomatic adults | rel=r_associated | relid=0 | w=31
  2677. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:may occur in adults (also in pregnancy)
    n1=en:one patient reported (last curated november 2012) | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=31
  2678. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:may regress
    n1=en:one patient reported (last curated november 2012) | n2=en:may regress | rel=r_associated | relid=0 | w=31
  2679. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:may result in early death from severe diarrhea
    n1=en:one patient reported (last curated november 2012) | n2=en:may result in early death from severe diarrhea | rel=r_associated | relid=0 | w=31
  2680. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | rel=r_associated | relid=0 | w=31
  2681. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mean age at onset of dementia is 57 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=31
  2682. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mean age at resolution of symptoms 10 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at resolution of symptoms 10 years | rel=r_associated | relid=0 | w=31
  2683. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mean age of onset 34 months
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 34 months | rel=r_associated | relid=0 | w=31
  2684. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mechanical ventilation may be required
    n1=en:one patient reported (last curated november 2012) | n2=en:mechanical ventilation may be required | rel=r_associated | relid=0 | w=31
  2685. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mecp2 mutations are those found in females with rett syndrome (312750)
    n1=en:one patient reported (last curated november 2012) | n2=en:mecp2 mutations are those found in females with rett syndrome (312750) | rel=r_associated | relid=0 | w=31
  2686. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:median age at diagnosis, 59 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=31
  2687. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:microdeletion is approximately 1.5mb in length
    n1=en:one patient reported (last curated november 2012) | n2=en:microdeletion is approximately 1.5mb in length | rel=r_associated | relid=0 | w=31
  2688. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mild cases show clinical, biochemical, and mri improvement after the second year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | rel=r_associated | relid=0 | w=31
  2689. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy
    n1=en:one patient reported (last curated november 2012) | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=31
  2690. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:minimum duplication includes bhlha9 (615416)
    n1=en:one patient reported (last curated november 2012) | n2=en:minimum duplication includes bhlha9 (615416) | rel=r_associated | relid=0 | w=31
  2691. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:miscellaneous
    n1=en:one patient reported (last curated november 2012) | n2=en:miscellaneous | rel=r_associated | relid=0 | w=31
  2692. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:moderate age-related improvement of pancreatic function
    n1=en:one patient reported (last curated november 2012) | n2=en:moderate age-related improvement of pancreatic function | rel=r_associated | relid=0 | w=31
  2693. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:more common in males
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in males | rel=r_associated | relid=0 | w=31
  2694. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:more common in men than women
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in men than women | rel=r_associated | relid=0 | w=31
  2695. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:most carrier females have mild mental retardation and subtle facial changes
    n1=en:one patient reported (last curated november 2012) | n2=en:most carrier females have mild mental retardation and subtle facial changes | rel=r_associated | relid=0 | w=31
  2696. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:most cases are responsive to steroids
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases are responsive to steroids | rel=r_associated | relid=0 | w=31
  2697. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:most common age of clinical onset ranges from 16 to 33 years
    n1=en:one patient reported (last curated november 2012) | n2=en:most common age of clinical onset ranges from 16 to 33 years | rel=r_associated | relid=0 | w=31
  2698. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:most patients are from finland
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are from finland | rel=r_associated | relid=0 | w=31
  2699. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:most patients have de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients have de novo mutations | rel=r_associated | relid=0 | w=31
  2700. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:most pregnancies with affected fetuses resulted in elective termination
    n1=en:one patient reported (last curated november 2012) | n2=en:most pregnancies with affected fetuses resulted in elective termination | rel=r_associated | relid=0 | w=31
  2701. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:most remit by 2 months
    n1=en:one patient reported (last curated november 2012) | n2=en:most remit by 2 months | rel=r_associated | relid=0 | w=31
  2702. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:mulibrey is an acronym (muscle, liver, brain, and eyes)
    n1=en:one patient reported (last curated november 2012) | n2=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | rel=r_associated | relid=0 | w=31
  2703. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:muscle weakness increases with age
    n1=en:one patient reported (last curated november 2012) | n2=en:muscle weakness increases with age | rel=r_associated | relid=0 | w=31
  2704. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:near-normoglycemic remission for period of months to years without insulin treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:near-normoglycemic remission for period of months to years without insulin treatment | rel=r_associated | relid=0 | w=31
  2705. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:neurologic signs are present in the neonatal period only
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic signs are present in the neonatal period only | rel=r_associated | relid=0 | w=31
  2706. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective
    n1=en:one patient reported (last curated november 2012) | n2=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | rel=r_associated | relid=0 | w=31
  2707. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:no consistent disease phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:no consistent disease phenotype | rel=r_associated | relid=0 | w=31
  2708. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:no consistent dysmorphic facial phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
  2709. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:no extraocular findings
    n1=en:one patient reported (last curated november 2012) | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=31
  2710. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:no male-to-male transmission
    n1=en:one patient reported (last curated november 2012) | n2=en:no male-to-male transmission | rel=r_associated | relid=0 | w=31
  2711. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:no neurologic sequelae
    n1=en:one patient reported (last curated november 2012) | n2=en:no neurologic sequelae | rel=r_associated | relid=0 | w=31
  2712. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:nonspecific subtle dysmorphic facial features may be present
    n1=en:one patient reported (last curated november 2012) | n2=en:nonspecific subtle dysmorphic facial features may be present | rel=r_associated | relid=0 | w=31
  2713. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:normal growth and development after 1 year of age
    n1=en:one patient reported (last curated november 2012) | n2=en:normal growth and development after 1 year of age | rel=r_associated | relid=0 | w=31
  2714. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:normal sweat electrolytes
    n1=en:one patient reported (last curated november 2012) | n2=en:normal sweat electrolytes | rel=r_associated | relid=0 | w=31
  2715. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:nphp shows autosomal recessive inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:nphp shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=31
  2716. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:often reared as females until puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:often reared as females until puberty | rel=r_associated | relid=0 | w=31
  2717. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | 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=31
  2718. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one 9-generation family and 1 isolated patient described (last curated march 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | rel=r_associated | relid=0 | w=31
  2719. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one brazilian family with 12 affected individuals reported (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | rel=r_associated | relid=0 | w=31
  2720. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one chinese family with 14 affected individuals has been described (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=31
  2721. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one consanguineous family has been reported (last curated may 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=31
  2722. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  2723. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one consanguineous pakistani family has been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31
  2724. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family and an unrelated patient have been reported (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family and an unrelated patient have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=31
  2725. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family of irish traveller descent described (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of irish traveller descent described (last curated september 2013) | rel=r_associated | relid=0 | w=31
  2726. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family of italian-american descent has been described
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of italian-american descent has been described | rel=r_associated | relid=0 | w=31
  2727. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family reported (as of may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (as of may 2012) | rel=r_associated | relid=0 | w=31
  2728. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family with 3 affected girls has been reported (as of october 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 3 affected girls has been reported (as of october 2011) | rel=r_associated | relid=0 | w=31
  2729. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family with 3 affected males has been reported (as of october 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 3 affected males has been reported (as of october 2011) | rel=r_associated | relid=0 | w=31
  2730. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family with 4 affected sibs has been reported (as of april 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 4 affected sibs has been reported (as of april 2012) | rel=r_associated | relid=0 | w=31
  2731. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=31
  2732. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one family with a fatal subacute encephalopathy has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with a fatal subacute encephalopathy has been reported | rel=r_associated | relid=0 | w=31
  2733. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one french family has been reported (as of march 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one french family has been reported (as of march 2012) | rel=r_associated | relid=0 | w=31
  2734. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one large family has been reported (last curated june 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=31
  2735. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one of the 2 most common forms of oca in the world along with oca1
    n1=en:one patient reported (last curated november 2012) | n2=en:one of the 2 most common forms of oca in the world along with oca1 | rel=r_associated | relid=0 | w=31
  2736. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one pakistani family reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one pakistani family reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  2737. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | rel=r_associated | relid=0 | w=31
  2738. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one patient had onset at birth and a more severe disorder resulting in death at a young age
    n1=en:one patient reported (last curated november 2012) | 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=31
  2739. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=31
  2740. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one patient with normal psychomotor development has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with normal psychomotor development has been reported | rel=r_associated | relid=0 | w=31
  2741. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:one six-generation family from northern china has been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one six-generation family from northern china has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2742. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset 3rd to 4th decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 3rd to 4th decade of life | rel=r_associated | relid=0 | w=31
  2743. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset 5 to 10 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 5 to 10 years of age | rel=r_associated | relid=0 | w=31
  2744. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset 8-20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 8-20 years | rel=r_associated | relid=0 | w=31
  2745. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset after third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset after third decade | rel=r_associated | relid=0 | w=31
  2746. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset age 2 to 7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset age 2 to 7 years | rel=r_associated | relid=0 | w=31
  2747. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset age 20 to 51 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset age 20 to 51 years | rel=r_associated | relid=0 | w=31
  2748. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset at 2 to 4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 2 to 4 years | rel=r_associated | relid=0 | w=31
  2749. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset at 4 to 7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 4 to 7 years | rel=r_associated | relid=0 | w=31
  2750. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset at 5-24 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 5-24 months | rel=r_associated | relid=0 | w=31
  2751. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset at 6-9 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 6-9 months | rel=r_associated | relid=0 | w=31
  2752. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset before 50 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before 50 years of age | rel=r_associated | relid=0 | w=31
  2753. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset between 34 and 51 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 34 and 51 years of age | rel=r_associated | relid=0 | w=31
  2754. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset between 5 to 28 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 5 to 28 years of age | rel=r_associated | relid=0 | w=31
  2755. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset between 6 and 9 months after normal early development
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 6 and 9 months after normal early development | rel=r_associated | relid=0 | w=31
  2756. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family
    n1=en:one patient reported (last curated november 2012) | n2=en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family | rel=r_associated | relid=0 | w=31
  2757. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in adolescence to early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in adolescence to early adulthood | rel=r_associated | relid=0 | w=31
  2758. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in childhood (ages 1.5 to 7 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (ages 1.5 to 7 years) | rel=r_associated | relid=0 | w=31
  2759. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in childhood (mean age 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (mean age 10 years) | rel=r_associated | relid=0 | w=31
  2760. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in childhood (range 4 to 12 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range 4 to 12 years) | rel=r_associated | relid=0 | w=31
  2761. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | rel=r_associated | relid=0 | w=31
  2762. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in childhood or as young adult
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or as young adult | rel=r_associated | relid=0 | w=31
  2763. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in early childhood after initial normal development
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood after initial normal development | rel=r_associated | relid=0 | w=31
  2764. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in fifties or sixties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in fifties or sixties | rel=r_associated | relid=0 | w=31
  2765. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in first and second decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first and second decades | rel=r_associated | relid=0 | w=31
  2766. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in first hours to days of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first hours to days of life | rel=r_associated | relid=0 | w=31
  2767. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in first or second decade (range 4 to 13 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first or second decade (range 4 to 13 years) | rel=r_associated | relid=0 | w=31
  2768. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in infancy (3 months on)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy (3 months on) | rel=r_associated | relid=0 | w=31
  2769. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in late-childhood to early adulthood (12 to 20 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late-childhood to early adulthood (12 to 20 years) | rel=r_associated | relid=0 | w=31
  2770. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in middle age (44 to 60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in middle age (44 to 60 years) | rel=r_associated | relid=0 | w=31
  2771. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in teens has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in teens has been reported | rel=r_associated | relid=0 | w=31
  2772. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies | rel=r_associated | relid=0 | w=31
  2773. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset in young adulthood or adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in young adulthood or adulthood | rel=r_associated | relid=0 | w=31
  2774. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset mid to late adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset mid to late adulthood | rel=r_associated | relid=0 | w=31
  2775. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of ataxia in the fifties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of ataxia in the fifties | rel=r_associated | relid=0 | w=31
  2776. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of chronic progressive polyneuropathy in late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of chronic progressive polyneuropathy in late childhood | rel=r_associated | relid=0 | w=31
  2777. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of disease after fourth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease after fourth decade of life | rel=r_associated | relid=0 | w=31
  2778. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of dysmorphic features and developmental delay in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of dysmorphic features and developmental delay in infancy | rel=r_associated | relid=0 | w=31
  2779. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of hand involvement at 14 to 60 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hand involvement at 14 to 60 years | rel=r_associated | relid=0 | w=31
  2780. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of hearing loss in late childhood or adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in late childhood or adolescence | rel=r_associated | relid=0 | w=31
  2781. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of muscle weakness around age 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of muscle weakness around age 5 years | rel=r_associated | relid=0 | w=31
  2782. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of neurologic symptoms often by 30 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of neurologic symptoms often by 30 months | rel=r_associated | relid=0 | w=31
  2783. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of parkinsonism in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of parkinsonism in first decade | rel=r_associated | relid=0 | w=31
  2784. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | rel=r_associated | relid=0 | w=31
  2785. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of proteinuria in the second to fourth decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of proteinuria in the second to fourth decades | rel=r_associated | relid=0 | w=31
  2786. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of seizures between 2 and 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures between 2 and 5 years | rel=r_associated | relid=0 | w=31
  2787. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of seizures in first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures in first months of life | rel=r_associated | relid=0 | w=31
  2788. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of seizures in later childhood (5 to 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures in later childhood (5 to 10 years) | rel=r_associated | relid=0 | w=31
  2789. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of sleepwalking between 4 and 8 years old
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of sleepwalking between 4 and 8 years old | rel=r_associated | relid=0 | w=31
  2790. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset of symptoms often associated with nonspecific febrile illness
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms often associated with nonspecific febrile illness | rel=r_associated | relid=0 | w=31
  2791. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset precipitated by fasting or illness
    n1=en:one patient reported (last curated november 2012) | n2=en:onset precipitated by fasting or illness | rel=r_associated | relid=0 | w=31
  2792. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset ranges from birth to age 4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from birth to age 4 years | rel=r_associated | relid=0 | w=31
  2793. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset ranges from first to third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from first to third decade | rel=r_associated | relid=0 | w=31
  2794. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually at birth | rel=r_associated | relid=0 | w=31
  2795. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually before age 10 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually before age 10 years | rel=r_associated | relid=0 | w=31
  2796. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in childhood (infancy to teens)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood (infancy to teens) | rel=r_associated | relid=0 | w=31
  2797. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in childhood or adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=31
  2798. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in first month of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in first month of life | rel=r_associated | relid=0 | w=31
  2799. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in first or second decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in first or second decades | rel=r_associated | relid=0 | w=31
  2800. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in first to third decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in first to third decade of life | rel=r_associated | relid=0 | w=31
  2801. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in infancy | rel=r_associated | relid=0 | w=31
  2802. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in infancy or early childhood | rel=r_associated | relid=0 | w=31
  2803. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:onset usually in late infancy or childhood (1 to 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in late infancy or childhood (1 to 6 years) | rel=r_associated | relid=0 | w=31
  2804. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:part of 'dent disease complex'
    n1=en:one patient reported (last curated november 2012) | n2=en:part of 'dent disease complex' | rel=r_associated | relid=0 | w=31
  2805. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients are 46,xy individuals who may be phenotypically female
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are 46,xy individuals who may be phenotypically female | rel=r_associated | relid=0 | w=31
  2806. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients are severely disabled as adults
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are severely disabled as adults | rel=r_associated | relid=0 | w=31
  2807. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients become wheelchair-bound as adults
    n1=en:one patient reported (last curated november 2012) | n2=en:patients become wheelchair-bound as adults | rel=r_associated | relid=0 | w=31
  2808. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients can be divided into 2 groups based on whether typical hand anomalies are present
    n1=en:one patient reported (last curated november 2012) | n2=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | rel=r_associated | relid=0 | w=31
  2809. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients can have als, ftd, or both
    n1=en:one patient reported (last curated november 2012) | n2=en:patients can have als, ftd, or both | rel=r_associated | relid=0 | w=31
  2810. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients develop acute symptoms under physiologic stress due to illness
    n1=en:one patient reported (last curated november 2012) | n2=en:patients develop acute symptoms under physiologic stress due to illness | rel=r_associated | relid=0 | w=31
  2811. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients die in infancy due to infectious complications
    n1=en:one patient reported (last curated november 2012) | n2=en:patients die in infancy due to infectious complications | rel=r_associated | relid=0 | w=31
  2812. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients do not have ectopia lentis
    n1=en:one patient reported (last curated november 2012) | n2=en:patients do not have ectopia lentis | rel=r_associated | relid=0 | w=31
  2813. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients may require implantable cardioverter defibrillators
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may require implantable cardioverter defibrillators | rel=r_associated | relid=0 | w=31
  2814. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients need lifelong total parenteral nutrition
    n1=en:one patient reported (last curated november 2012) | n2=en:patients need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=31
  2815. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients usually require total thyroidectomy
    n1=en:one patient reported (last curated november 2012) | n2=en:patients usually require total thyroidectomy | rel=r_associated | relid=0 | w=31
  2816. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:patients with meb have less severe features and longer survival
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with meb have less severe features and longer survival | rel=r_associated | relid=0 | w=31
  2817. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:peo is not always present
    n1=en:one patient reported (last curated november 2012) | n2=en:peo is not always present | rel=r_associated | relid=0 | w=31
  2818. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:performing laboratory name:identifier:point in time:facility:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:performing laboratory name:identifier:point in time:facility:nominal | rel=r_associated | relid=0 | w=31
  2819. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:periventricular heterotopia (300049) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:periventricular heterotopia (300049) is an allelic disorder | rel=r_associated | relid=0 | w=31
  2820. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:persistent bleeding after injury or surgery
    n1=en:one patient reported (last curated november 2012) | n2=en:persistent bleeding after injury or surgery | rel=r_associated | relid=0 | w=31
  2821. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:persistent exposure to fructose leads to chronic liver and kidney complications
    n1=en:one patient reported (last curated november 2012) | n2=en:persistent exposure to fructose leads to chronic liver and kidney complications | rel=r_associated | relid=0 | w=31
  2822. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=31
  2823. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with desbuquois dysplasia (251450)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with desbuquois dysplasia (251450) | rel=r_associated | relid=0 | w=31
  2824. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)
    n1=en:one patient reported (last curated november 2012) | 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=31
  2825. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:phenotypic similarities to leigh syndrome (256000)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic similarities to leigh syndrome (256000) | rel=r_associated | relid=0 | w=31
  2826. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:precipitation by pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=31
  2827. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prenatal history of maternal diabetes in 35% of cases
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal history of maternal diabetes in 35% of cases | rel=r_associated | relid=0 | w=31
  2828. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prenatal onset
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal onset | rel=r_associated | relid=0 | w=31
  2829. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:presentation in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation in early childhood | rel=r_associated | relid=0 | w=31
  2830. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:presents at 2 to 3 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:presents at 2 to 3 months of age | rel=r_associated | relid=0 | w=31
  2831. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> 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:one patient reported (last curated november 2012) | 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=31
  2832. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)
    n1=en:one patient reported (last curated november 2012) | n2=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | rel=r_associated | relid=0 | w=31
  2833. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalence 1-2% in northern european populations
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence 1-2% in northern european populations | rel=r_associated | relid=0 | w=31
  2834. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalence much higher in whites than blacks
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence much higher in whites than blacks | rel=r_associated | relid=0 | w=31
  2835. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 100,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 100,000 | rel=r_associated | relid=0 | w=31
  2836. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 150 to 1 in 1,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 150 to 1 in 1,000 | rel=r_associated | relid=0 | w=31
  2837. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 7,900 in cameroon
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 7,900 in cameroon | rel=r_associated | relid=0 | w=31
  2838. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalence of 7 in 100,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 7 in 100,000 live births | rel=r_associated | relid=0 | w=31
  2839. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalence of sleepwalking about 3% in adults
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of sleepwalking about 3% in adults | rel=r_associated | relid=0 | w=31
  2840. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:prevalent in sweden
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in sweden | rel=r_associated | relid=0 | w=31
  2841. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:progresses through puberty, then stabilizes
    n1=en:one patient reported (last curated november 2012) | n2=en:progresses through puberty, then stabilizes | rel=r_associated | relid=0 | w=31
  2842. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:progression of phenotype with age
    n1=en:one patient reported (last curated november 2012) | n2=en:progression of phenotype with age | rel=r_associated | relid=0 | w=31
  2843. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid
    n1=en:one patient reported (last curated november 2012) | n2=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | rel=r_associated | relid=0 | w=31
  2844. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:pyogenic arthritis, pyoderma gangrenosum and acne
    n1=en:one patient reported (last curated november 2012) | n2=en:pyogenic arthritis, pyoderma gangrenosum and acne | rel=r_associated | relid=0 | w=31
  2845. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:rapidly progressive (6-24 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive (6-24 months) | rel=r_associated | relid=0 | w=31
  2846. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:rapidly progressive episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive episodes | rel=r_associated | relid=0 | w=31
  2847. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:rarely reported in infants
    n1=en:one patient reported (last curated november 2012) | n2=en:rarely reported in infants | rel=r_associated | relid=0 | w=31
  2848. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | rel=r_associated | relid=0 | w=31
  2849. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | rel=r_associated | relid=0 | w=31
  2850. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:right side affected greater than left side
    n1=en:one patient reported (last curated november 2012) | n2=en:right side affected greater than left side | rel=r_associated | relid=0 | w=31
  2851. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:risk of sudden death
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of sudden death | rel=r_associated | relid=0 | w=31
  2852. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:risk of thromboembolic stroke
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of thromboembolic stroke | rel=r_associated | relid=0 | w=31
  2853. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:secretory diarrhea begins prenatally
    n1=en:one patient reported (last curated november 2012) | n2=en:secretory diarrhea begins prenatally | rel=r_associated | relid=0 | w=31
  2854. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant robinow syndrome (180700)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant robinow syndrome (180700) | rel=r_associated | relid=0 | w=31
  2855. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also congenital stiff person syndrome (149400)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also congenital stiff person syndrome (149400) | rel=r_associated | relid=0 | w=31
  2856. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also erythrocytosis 1 (ecyt1, 133100)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also erythrocytosis 1 (ecyt1, 133100) | rel=r_associated | relid=0 | w=31
  2857. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=31
  2858. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also peeling skin syndrome, acral type (609796)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also peeling skin syndrome, acral type (609796) | rel=r_associated | relid=0 | w=31
  2859. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also pseudohypoparathyroidism type ia (103580)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pseudohypoparathyroidism type ia (103580) | rel=r_associated | relid=0 | w=31
  2860. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also pseudohypoparathyroidism type ib (603233) and ic (612462)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | rel=r_associated | relid=0 | w=31
  2861. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also two x-linked forms 300633 and 300758
    n1=en:one patient reported (last curated november 2012) | n2=en:see also two x-linked forms 300633 and 300758 | rel=r_associated | relid=0 | w=31
  2862. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see also x-linked (310400) and autosomal dominant (160150) forms
    n1=en:one patient reported (last curated november 2012) | n2=en:see also x-linked (310400) and autosomal dominant (160150) forms | rel=r_associated | relid=0 | w=31
  2863. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders
    n1=en:one patient reported (last curated november 2012) | n2=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | rel=r_associated | relid=0 | w=31
  2864. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:seizure onset after 3 months
    n1=en:one patient reported (last curated november 2012) | n2=en:seizure onset after 3 months | rel=r_associated | relid=0 | w=31
  2865. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:seizures are followed by drowsiness in most cases
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are followed by drowsiness in most cases | rel=r_associated | relid=0 | w=31
  2866. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:seizures last about 30 seconds to 3 minutes
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures last about 30 seconds to 3 minutes | rel=r_associated | relid=0 | w=31
  2867. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:seizures usually remit spontaneously by 12 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures usually remit spontaneously by 12 months of age | rel=r_associated | relid=0 | w=31
  2868. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  2869. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=31
  2870. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=31
  2871. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=31
  2872. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2873. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  2874. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=31
  2875. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  2876. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=31
  2877. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2878. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:severe epilepsy may lead to early death
    n1=en:one patient reported (last curated november 2012) | n2=en:severe epilepsy may lead to early death | rel=r_associated | relid=0 | w=31
  2879. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:severe hearing loss by age 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:severe hearing loss by age 50 years | rel=r_associated | relid=0 | w=31
  2880. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:severity of skin symptoms may vary within families
    n1=en:one patient reported (last curated november 2012) | n2=en:severity of skin symptoms may vary within families | rel=r_associated | relid=0 | w=31
  2881. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:short stepped shuffling gait
    n1=en:one patient reported (last curated november 2012) | n2=en:short stepped shuffling gait | rel=r_associated | relid=0 | w=31
  2882. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:skewed x-inactivation, with complete skewing in some individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=31
  2883. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:skin abnormalities can be present at birth or appear later in infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:skin abnormalities can be present at birth or appear later in infancy or childhood | rel=r_associated | relid=0 | w=31
  2884. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:skin abnormalities tend to decrease with age
    n1=en:one patient reported (last curated november 2012) | n2=en:skin abnormalities tend to decrease with age | rel=r_associated | relid=0 | w=31
  2885. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:skin lesions improve in the summer
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions improve in the summer | rel=r_associated | relid=0 | w=31
  2886. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | rel=r_associated | relid=0 | w=31
  2887. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:skin wrinkling improves with age
    n1=en:one patient reported (last curated november 2012) | n2=en:skin wrinkling improves with age | rel=r_associated | relid=0 | w=31
  2888. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:sleep disturbance or sleep apnea (obstructive, central, or mixed)
    n1=en:one patient reported (last curated november 2012) | n2=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | rel=r_associated | relid=0 | w=31
  2889. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:sleepwalking triggered by alcohol, sleep deprivation, stress
    n1=en:one patient reported (last curated november 2012) | n2=en:sleepwalking triggered by alcohol, sleep deprivation, stress | rel=r_associated | relid=0 | w=31
  2890. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:slowly or nonprogressive
    n1=en:one patient reported (last curated november 2012) | n2=en:slowly or nonprogressive | rel=r_associated | relid=0 | w=31
  2891. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:small placenta
    n1=en:one patient reported (last curated november 2012) | n2=en:small placenta | rel=r_associated | relid=0 | w=31
  2892. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some familial occurrence, most de novo aberrations
    n1=en:one patient reported (last curated november 2012) | n2=en:some familial occurrence, most de novo aberrations | rel=r_associated | relid=0 | w=31
  2893. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used
    n1=en:one patient reported (last curated november 2012) | n2=en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used | rel=r_associated | relid=0 | w=31
  2894. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients can be treated with large doses of vitamin d and calcium
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients can be treated with large doses of vitamin d and calcium | rel=r_associated | relid=0 | w=31
  2895. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients do not reach end-stage renal failure
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not reach end-stage renal failure | rel=r_associated | relid=0 | w=31
  2896. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life
    n1=en:one patient reported (last curated november 2012) | 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=31
  2897. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | rel=r_associated | relid=0 | w=31
  2898. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients may be asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may be asymptomatic | rel=r_associated | relid=0 | w=31
  2899. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients may become bedridden 10 to 20 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may become bedridden 10 to 20 years after onset | rel=r_associated | relid=0 | w=31
  2900. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients may develop interictal progressive ataxia
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may develop interictal progressive ataxia | rel=r_associated | relid=0 | w=31
  2901. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients may have isolated cardiac involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have isolated cardiac involvement | rel=r_associated | relid=0 | w=31
  2902. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients may have normal brain imaging
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have normal brain imaging | rel=r_associated | relid=0 | w=31
  2903. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients may not achieve walking
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may not achieve walking | rel=r_associated | relid=0 | w=31
  2904. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients may show a favorable response to oral coenzyme q10 supplementation
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may show a favorable response to oral coenzyme q10 supplementation | rel=r_associated | relid=0 | w=31
  2905. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | rel=r_associated | relid=0 | w=31
  2906. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:some pedigrees are consistent with autosomal dominant inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:some pedigrees are consistent with autosomal dominant inheritance | rel=r_associated | relid=0 | w=31
  2907. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:stillborn or death in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:stillborn or death in infancy | rel=r_associated | relid=0 | w=31
  2908. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:stillborn or death shortly after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:stillborn or death shortly after birth | rel=r_associated | relid=0 | w=31
  2909. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:sudden cardiac death frequent in affected families
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden cardiac death frequent in affected families | rel=r_associated | relid=0 | w=31
  2910. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:survival greater than one year rare
    n1=en:one patient reported (last curated november 2012) | n2=en:survival greater than one year rare | rel=r_associated | relid=0 | w=31
  2911. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:symptomatic female carriers have been described in 1 japanese family
    n1=en:one patient reported (last curated november 2012) | n2=en:symptomatic female carriers have been described in 1 japanese family | rel=r_associated | relid=0 | w=31
  2912. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:symptoms can be prevented by strict dietary restriction
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms can be prevented by strict dietary restriction | rel=r_associated | relid=0 | w=31
  2913. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:symptoms precipitated by exercise and excitement
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by exercise and excitement | rel=r_associated | relid=0 | w=31
  2914. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | rel=r_associated | relid=0 | w=31
  2915. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:symptoms typically begin in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms typically begin in childhood | rel=r_associated | relid=0 | w=31
  2916. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | rel=r_associated | relid=0 | w=31
  2917. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:symptoms usually occur in adults
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms usually occur in adults | rel=r_associated | relid=0 | w=31
  2918. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:systemic amyloid deposition may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:systemic amyloid deposition may occur | rel=r_associated | relid=0 | w=31
  2919. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:systemic granulomatous disease
    n1=en:one patient reported (last curated november 2012) | n2=en:systemic granulomatous disease | rel=r_associated | relid=0 | w=31
  2920. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:t-cell lymphopenia is more severe early in life
    n1=en:one patient reported (last curated november 2012) | n2=en:t-cell lymphopenia is more severe early in life | rel=r_associated | relid=0 | w=31
  2921. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:telangiectases persist in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:telangiectases persist in adulthood | rel=r_associated | relid=0 | w=31
  2922. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea
    n1=en:one patient reported (last curated november 2012) | n2=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | rel=r_associated | relid=0 | w=31
  2923. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract
    n1=en:one patient reported (last curated november 2012) | 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=31
  2924. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:there are several subtypes
    n1=en:one patient reported (last curated november 2012) | n2=en:there are several subtypes | rel=r_associated | relid=0 | w=31
  2925. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:thoracic abnormalities tend to improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:thoracic abnormalities tend to improve with age | rel=r_associated | relid=0 | w=31
  2926. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:thorax anomaly ameliorates with age (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:thorax anomaly ameliorates with age (in some patients) | rel=r_associated | relid=0 | w=31
  2927. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three families described (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families described (last curated january 2014) | rel=r_associated | relid=0 | w=31
  2928. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three families have been reported (last curated july 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=31
  2929. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three families of ashkenazi jewish descent have been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31
  2930. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three patients have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31
  2931. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three unrelated families have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31
  2932. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three unrelated families have been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31
  2933. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three unrelated males have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated males have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  2934. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three unrelated patients have been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=31
  2935. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three unrelated patients have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  2936. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=31
  2937. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three unrelated probands have been reported (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated probands have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=31
  2938. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult
    n1=en:one patient reported (last curated november 2012) | 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=31
  2939. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:treatment with bh4 is effective
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with bh4 is effective | rel=r_associated | relid=0 | w=31
  2940. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:treatment with coq10 may result in some clinical improvement
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with coq10 may result in some clinical improvement | rel=r_associated | relid=0 | w=31
  2941. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:treatment with oral coenzyme q may ameliorate symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with oral coenzyme q may ameliorate symptoms | rel=r_associated | relid=0 | w=31
  2942. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | rel=r_associated | relid=0 | w=31
  2943. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:treatment with vitamin d and phosphate is effective
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with vitamin d and phosphate is effective | rel=r_associated | relid=0 | w=31
  2944. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:triggered by exercise, fasting, or other metabolic stresses
    n1=en:one patient reported (last curated november 2012) | n2=en:triggered by exercise, fasting, or other metabolic stresses | rel=r_associated | relid=0 | w=31
  2945. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:truncating mutations in crebbp found in 10% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:truncating mutations in crebbp found in 10% of patients | rel=r_associated | relid=0 | w=31
  2946. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two arab muslim families have been reported (last curated october 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two arab muslim families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=31
  2947. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two families have been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=31
  2948. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two patients have been reported (as of august 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=31
  2949. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two patients with a wws phenotype have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients with a wws phenotype have been reported | rel=r_associated | relid=0 | w=31
  2950. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two patients without cardiomyopathy or cataracts have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients without cardiomyopathy or cataracts have been reported | rel=r_associated | relid=0 | w=31
  2951. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=31
  2952. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two sibs have been reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  2953. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two sisters have been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sisters have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=31
  2954. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=31
  2955. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=31
  2956. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=31
  2957. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated japanese patients have been reported (last curated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated japanese patients have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=31
  2958. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients had multiple congenital anomalies and died in early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients had multiple congenital anomalies and died in early infancy | rel=r_associated | relid=0 | w=31
  2959. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (as of january 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=31
  2960. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (as of may 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (as of may 2011) | rel=r_associated | relid=0 | w=31
  2961. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=31
  2962. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2963. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=31
  2964. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  2965. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia
    n1=en:one patient reported (last curated november 2012) | n2=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | rel=r_associated | relid=0 | w=31
  2966. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:typical onset in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:typical onset in adulthood | rel=r_associated | relid=0 | w=31
  2967. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:uncommon and rare features seen in the most severely affected patients
    n1=en:one patient reported (last curated november 2012) | n2=en:uncommon and rare features seen in the most severely affected patients | rel=r_associated | relid=0 | w=31
  2968. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:unusual cabbage-like odor
    n1=en:one patient reported (last curated november 2012) | n2=en:unusual cabbage-like odor | rel=r_associated | relid=0 | w=31
  2969. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:upper limb involvement usually occurs later
    n1=en:one patient reported (last curated november 2012) | n2=en:upper limb involvement usually occurs later | rel=r_associated | relid=0 | w=31
  2970. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:usually affects children
    n1=en:one patient reported (last curated november 2012) | n2=en:usually affects children | rel=r_associated | relid=0 | w=31
  2971. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:usually no increased fragility of hair
    n1=en:one patient reported (last curated november 2012) | n2=en:usually no increased fragility of hair | rel=r_associated | relid=0 | w=31
  2972. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (birth to adolescence)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (birth to adolescence) | rel=r_associated | relid=0 | w=31
  2973. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range childhood to mid-sixties)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range childhood to mid-sixties) | rel=r_associated | relid=0 | w=31
  2974. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range infancy to late adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range infancy to late adulthood) | rel=r_associated | relid=0 | w=31
  2975. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset of seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset of seizures | rel=r_associated | relid=0 | w=31
  2976. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset of symptoms, from second to fifth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset of symptoms, from second to fifth decade of life | rel=r_associated | relid=0 | w=31
  2977. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset of symptoms, ranging from the second to seventh decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | rel=r_associated | relid=0 | w=31
  2978. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, ranges from third to fifth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, ranges from third to fifth decade of life | rel=r_associated | relid=0 | w=31
  2979. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, ranging from childhood to late adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, ranging from childhood to late adulthood | rel=r_associated | relid=0 | w=31
  2980. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, usually first or second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, usually first or second decade | rel=r_associated | relid=0 | w=31
  2981. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age of onset
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset | rel=r_associated | relid=0 | w=31
  2982. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable age of onset (range first to third decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (range first to third decade) | rel=r_associated | relid=0 | w=31
  2983. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable cataract phenotypes within a family
    n1=en:one patient reported (last curated november 2012) | n2=en:variable cataract phenotypes within a family | rel=r_associated | relid=0 | w=31
  2984. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable expressivity in families
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expressivity in families | rel=r_associated | relid=0 | w=31
  2985. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable heat tolerance
    n1=en:one patient reported (last curated november 2012) | n2=en:variable heat tolerance | rel=r_associated | relid=0 | w=31
  2986. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable phenotype depending on residual enzyme activity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype depending on residual enzyme activity | rel=r_associated | relid=0 | w=31
  2987. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable phenotype within families ranging from woolly hair to hypotrichosis
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype within families ranging from woolly hair to hypotrichosis | rel=r_associated | relid=0 | w=31
  2988. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable phenotypic features cataloged depending on development of fetus or infant
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotypic features cataloged depending on development of fetus or infant | rel=r_associated | relid=0 | w=31
  2989. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable progression rate
    n1=en:one patient reported (last curated november 2012) | n2=en:variable progression rate | rel=r_associated | relid=0 | w=31
  2990. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable severity that correlates with rate and magnitude of neuronal protein accumulation
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | rel=r_associated | relid=0 | w=31
  2991. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable severity, correlates with age at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity, correlates with age at onset | rel=r_associated | relid=0 | w=31
  2992. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:variable severity, ranging from 'typical' to 'severe' disease
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity, ranging from 'typical' to 'severe' disease | rel=r_associated | relid=0 | w=31
  2993. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
    n1=en:one patient reported (last curated november 2012) | n2=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | rel=r_associated | relid=0 | w=31
  2994. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment
    n1=en:one patient reported (last curated november 2012) | 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=31
  2995. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:waddling gait noted at age 15-20 months
    n1=en:one patient reported (last curated november 2012) | n2=en:waddling gait noted at age 15-20 months | rel=r_associated | relid=0 | w=31
  2996. en:one patient reported (last curated november 2012) -- r_associated #0: 31 / 0.721 -> en:xy karyotype
    n1=en:one patient reported (last curated november 2012) | n2=en:xy karyotype | rel=r_associated | relid=0 | w=31
  2997. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:(5) dihydrolipoyl dehydrogenase (e3)-deficient
    n1=en:one patient reported (last curated november 2012) | n2=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | rel=r_associated | relid=0 | w=30
  2998. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:15 patients from 5 kindreds reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:15 patients from 5 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=30
  2999. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | rel=r_associated | relid=0 | w=30
  3000. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:20-40% patients are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:20-40% patients are asymptomatic | rel=r_associated | relid=0 | w=30
  3001. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:a minority of patients have onset after age 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:a minority of patients have onset after age 30 years | rel=r_associated | relid=0 | w=30
  3002. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:a mutation in the cxorf5 gene has been reported in 1 affected family
    n1=en:one patient reported (last curated november 2012) | n2=en:a mutation in the cxorf5 gene has been reported in 1 affected family | rel=r_associated | relid=0 | w=30
  3003. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | rel=r_associated | relid=0 | w=30
  3004. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:a pair of monozygotic twins have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:a pair of monozygotic twins have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=30
  3005. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:accounts for 1-2% of lymphomas in adults
    n1=en:one patient reported (last curated november 2012) | n2=en:accounts for 1-2% of lymphomas in adults | rel=r_associated | relid=0 | w=30
  3006. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:accounts for 70% of all usher syndrome patients
    n1=en:one patient reported (last curated november 2012) | n2=en:accounts for 70% of all usher syndrome patients | rel=r_associated | relid=0 | w=30
  3007. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth
    n1=en:one patient reported (last curated november 2012) | n2=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | rel=r_associated | relid=0 | w=30
  3008. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset | rel=r_associated | relid=0 | w=30
  3009. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult onset (range 12 to 59 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 12 to 59 years) | rel=r_associated | relid=0 | w=30
  3010. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult onset (range 19 to 48 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 19 to 48 years) | rel=r_associated | relid=0 | w=30
  3011. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult onset (range 30 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 30 to 50 years) | rel=r_associated | relid=0 | w=30
  3012. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult onset (sixth decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (sixth decade) | rel=r_associated | relid=0 | w=30
  3013. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult onset has been rarely reported
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset has been rarely reported | rel=r_associated | relid=0 | w=30
  3014. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:adult onset, usually 30's to 40's, but up to early 60's
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset, usually 30's to 40's, but up to early 60's | rel=r_associated | relid=0 | w=30
  3015. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:affected individuals may have learning or behavioral problems during the period when seizures occur
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals may have learning or behavioral problems during the period when seizures occur | rel=r_associated | relid=0 | w=30
  3016. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:affected males who survive are secondary to new mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males who survive are secondary to new mutations | rel=r_associated | relid=0 | w=30
  3017. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:affects between 1 in 200 to 1 in 400 individuals of northern european descent
    n1=en:one patient reported (last curated november 2012) | n2=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | rel=r_associated | relid=0 | w=30
  3018. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:age at menarche:time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:age at menarche:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=30
  3019. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:age at onset 3 to 23 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset 3 to 23 years | rel=r_associated | relid=0 | w=30
  3020. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:age at onset most often in childhood (first decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset most often in childhood (first decade) | rel=r_associated | relid=0 | w=30
  3021. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:age of onset 5 to 19 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 5 to 19 years | rel=r_associated | relid=0 | w=30
  3022. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:age of onset ranges from infancy to young adulthood (6 months-19 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | rel=r_associated | relid=0 | w=30
  3023. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:age of onset usually 1 week to 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=30
  3024. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:aggravated by physical activity
    n1=en:one patient reported (last curated november 2012) | n2=en:aggravated by physical activity | rel=r_associated | relid=0 | w=30
  3025. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:all cases have been sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases have been sporadic | rel=r_associated | relid=0 | w=30
  3026. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:all cases sporadic (18 males, 7 females)
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=30
  3027. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:all patients have severe hearing loss 10 to 15 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:all patients have severe hearing loss 10 to 15 years after onset | rel=r_associated | relid=0 | w=30
  3028. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | rel=r_associated | relid=0 | w=30
  3029. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | rel=r_associated | relid=0 | w=30
  3030. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder
    n1=en:one patient reported (last curated november 2012) | 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=30
  3031. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | rel=r_associated | relid=0 | w=30
  3032. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | rel=r_associated | relid=0 | w=30
  3033. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to long qt syndrome-1 (lqt1, 192500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | rel=r_associated | relid=0 | w=30
  3034. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | rel=r_associated | relid=0 | w=30
  3035. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to potassium-aggravated myotonia (608390)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=30
  3036. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to stickler syndrome 3 (184840)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to stickler syndrome 3 (184840) | rel=r_associated | relid=0 | w=30
  3037. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to type iv glycogen storage disease (232500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to type iv glycogen storage disease (232500) | rel=r_associated | relid=0 | w=30
  3038. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) | rel=r_associated | relid=0 | w=30
  3039. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=30
  3040. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to brachydactyly, type a1 (112500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to brachydactyly, type a1 (112500) | rel=r_associated | relid=0 | w=30
  3041. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to dyggve-melchior-clausen disease (223800)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=30
  3042. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3043. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | rel=r_associated | relid=0 | w=30
  3044. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> 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:one patient reported (last curated november 2012) | 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=30
  3045. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=30
  3046. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=30
  3047. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to robinow syndrome, autosomal recessive (268310)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to robinow syndrome, autosomal recessive (268310) | rel=r_associated | relid=0 | w=30
  3048. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | rel=r_associated | relid=0 | w=30
  3049. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | rel=r_associated | relid=0 | w=30
  3050. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:alpha thalassemia-mental retardation syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:alpha thalassemia-mental retardation syndrome | rel=r_associated | relid=0 | w=30
  3051. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=30
  3052. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:ambulation is preserved
    n1=en:one patient reported (last curated november 2012) | n2=en:ambulation is preserved | rel=r_associated | relid=0 | w=30
  3053. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:ambulation is usually maintained during adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:ambulation is usually maintained during adulthood | rel=r_associated | relid=0 | w=30
  3054. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:antibodies can develop after pregnancy or transfusion
    n1=en:one patient reported (last curated november 2012) | n2=en:antibodies can develop after pregnancy or transfusion | rel=r_associated | relid=0 | w=30
  3055. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:approximately 50% of patients have situs inversus
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=30
  3056. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:approximately half of cases are due to unbalanced rearrangements, which may be familial
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | rel=r_associated | relid=0 | w=30
  3057. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia
    n1=en:one patient reported (last curated november 2012) | n2=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | rel=r_associated | relid=0 | w=30
  3058. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:associated with hemodialysis
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=30
  3059. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | rel=r_associated | relid=0 | w=30
  3060. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:associated with increasing age
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with increasing age | rel=r_associated | relid=0 | w=30
  3061. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:associated with the tau (157140) h1 haplotype
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with the tau (157140) h1 haplotype | rel=r_associated | relid=0 | w=30
  3062. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:asymptomatic heterozygotes susceptible to lead toxicity
    n1=en:one patient reported (last curated november 2012) | n2=en:asymptomatic heterozygotes susceptible to lead toxicity | rel=r_associated | relid=0 | w=30
  3063. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:ataxia is nonprogressive
    n1=en:one patient reported (last curated november 2012) | n2=en:ataxia is nonprogressive | rel=r_associated | relid=0 | w=30
  3064. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:atypical affected males, 'cardiac variants' 301500.0005 exist
    n1=en:one patient reported (last curated november 2012) | n2=en:atypical affected males, 'cardiac variants' 301500.0005 exist | rel=r_associated | relid=0 | w=30
  3065. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:average duration of illness 8 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average duration of illness 8 years | rel=r_associated | relid=0 | w=30
  3066. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on 2 reports of 3 patients (last curated september 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 reports of 3 patients (last curated september 2012) | rel=r_associated | relid=0 | w=30
  3067. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on a report of 2 monozygotic twin girls (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | rel=r_associated | relid=0 | w=30
  3068. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on one pakistani family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3069. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) | rel=r_associated | relid=0 | w=30
  3070. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on one sib pair each in their seventies
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=30
  3071. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of 1 consanguineous pakistani family (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | rel=r_associated | relid=0 | w=30
  3072. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of 1 family (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 family (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3073. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of 1 family of german ancestry (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 family of german ancestry (last curated december 2014) | rel=r_associated | relid=0 | w=30
  3074. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of 1 large 6-generation family (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 large 6-generation family (last curated july 2015) | rel=r_associated | relid=0 | w=30
  3075. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of 2 individuals (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=30
  3076. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | rel=r_associated | relid=0 | w=30
  3077. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of 2 unrelated japanese girls (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 unrelated japanese girls (last curated october 2015) | rel=r_associated | relid=0 | w=30
  3078. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of a chinese father and son (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of a chinese father and son (last curated may 2015) | rel=r_associated | relid=0 | w=30
  3079. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of one 5-generation family (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of one 5-generation family (last curated december 2015) | rel=r_associated | relid=0 | w=30
  3080. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on report of one polish roma patient (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of one polish roma patient (last curated november 2014) | rel=r_associated | relid=0 | w=30
  3081. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) | rel=r_associated | relid=0 | w=30
  3082. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:bone fragility is not apparent at birth, but becomes evident within several months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:bone fragility is not apparent at birth, but becomes evident within several months of life | rel=r_associated | relid=0 | w=30
  3083. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:both autosomal dominant and autosomal recessive inheritance has been described
    n1=en:one patient reported (last curated november 2012) | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=30
  3084. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia
    n1=en:one patient reported (last curated november 2012) | n2=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | rel=r_associated | relid=0 | w=30
  3085. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:both heterozygous and homozygous pax3 mutations have been found
    n1=en:one patient reported (last curated november 2012) | n2=en:both heterozygous and homozygous pax3 mutations have been found | rel=r_associated | relid=0 | w=30
  3086. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:both recessive and dominant inheritance have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:both recessive and dominant inheritance have been reported | rel=r_associated | relid=0 | w=30
  3087. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:bullae are located randomly in familial cases and apical in sporadic cases
    n1=en:one patient reported (last curated november 2012) | n2=en:bullae are located randomly in familial cases and apical in sporadic cases | rel=r_associated | relid=0 | w=30
  3088. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes
    n1=en:one patient reported (last curated november 2012) | n2=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | rel=r_associated | relid=0 | w=30
  3089. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:cardiomyopathy may develop later in the disease
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiomyopathy may develop later in the disease | rel=r_associated | relid=0 | w=30
  3090. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)
    n1=en:one patient reported (last curated november 2012) | 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=30
  3091. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:carrier frequency 1:1,000 in french-canadians in quebec
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier frequency 1:1,000 in french-canadians in quebec | rel=r_associated | relid=0 | w=30
  3092. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:carrier frequency 1:700 in bukhara jewish populations
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier frequency 1:700 in bukhara jewish populations | rel=r_associated | relid=0 | w=30
  3093. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:carrier rate of 1 in 11 among old order amish
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier rate of 1 in 11 among old order amish | rel=r_associated | relid=0 | w=30
  3094. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:cataract evident at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:cataract evident at birth | rel=r_associated | relid=0 | w=30
  3095. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:cataracts present at birth or develop in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:cataracts present at birth or develop in infancy | rel=r_associated | relid=0 | w=30
  3096. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400
    n1=en:one patient reported (last curated november 2012) | 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=30
  3097. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:caused by inborn error in bile acid synthesis
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by inborn error in bile acid synthesis | rel=r_associated | relid=0 | w=30
  3098. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:caused by paternally-inherited inactivating gnas1 mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by paternally-inherited inactivating gnas1 mutations | rel=r_associated | relid=0 | w=30
  3099. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:cells of origin are part of the diffuse neuroendocrine system (dnes)
    n1=en:one patient reported (last curated november 2012) | n2=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | rel=r_associated | relid=0 | w=30
  3100. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia
    n1=en:one patient reported (last curated november 2012) | n2=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | rel=r_associated | relid=0 | w=30
  3101. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:characteristic facial features become more apparent with age
    n1=en:one patient reported (last curated november 2012) | n2=en:characteristic facial features become more apparent with age | rel=r_associated | relid=0 | w=30
  3102. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:childhood onset has been reported in 1 family
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood onset has been reported in 1 family | rel=r_associated | relid=0 | w=30
  3103. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:clinical presentation varies from asymptomatic to fulminant course
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=30
  3104. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:clinical variation
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical variation | rel=r_associated | relid=0 | w=30
  3105. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
    n1=en:one patient reported (last curated november 2012) | n2=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | rel=r_associated | relid=0 | w=30
  3106. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:coloboma is associated with larger microdeletion (490kb) of 11q13
    n1=en:one patient reported (last curated november 2012) | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=30
  3107. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:communication board, non-electronic augmentative or alternative communication device
    n1=en:one patient reported (last curated november 2012) | n2=en:communication board, non-electronic augmentative or alternative communication device | rel=r_associated | relid=0 | w=30
  3108. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:complete penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:complete penetrance | rel=r_associated | relid=0 | w=30
  3109. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:complicated and pure forms
    n1=en:one patient reported (last curated november 2012) | n2=en:complicated and pure forms | rel=r_associated | relid=0 | w=30
  3110. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:congenital - over 2,000 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital - over 2,000 repeats | rel=r_associated | relid=0 | w=30
  3111. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:congenital or early onset hearing loss
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital or early onset hearing loss | rel=r_associated | relid=0 | w=30
  3112. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:contiguous gene deletion syndrome at chromosome 6p
    n1=en:one patient reported (last curated november 2012) | n2=en:contiguous gene deletion syndrome at chromosome 6p | rel=r_associated | relid=0 | w=30
  3113. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:continuing ovulation and implantation after initiation of another pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:continuing ovulation and implantation after initiation of another pregnancy | rel=r_associated | relid=0 | w=30
  3114. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:contractures at birth or difficulties in the neonatal period resolve
    n1=en:one patient reported (last curated november 2012) | n2=en:contractures at birth or difficulties in the neonatal period resolve | rel=r_associated | relid=0 | w=30
  3115. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:coronary artery disease or myocardial infarction in fifth or sixth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | rel=r_associated | relid=0 | w=30
  3116. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:corrected by bone marrow transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:corrected by bone marrow transplantation | rel=r_associated | relid=0 | w=30
  3117. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:cutaneous symptoms induced by cold exposure or cooling
    n1=en:one patient reported (last curated november 2012) | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=30
  3118. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000
    n1=en:one patient reported (last curated november 2012) | 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=30
  3119. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:d-hus is usually familial
    n1=en:one patient reported (last curated november 2012) | n2=en:d-hus is usually familial | rel=r_associated | relid=0 | w=30
  3120. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:de novo mutations occur almost exclusively on the paternally derived x chromosome
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | rel=r_associated | relid=0 | w=30
  3121. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death before age 40
    n1=en:one patient reported (last curated november 2012) | n2=en:death before age 40 | rel=r_associated | relid=0 | w=30
  3122. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death in childhood may occur due to end-stage renal disease
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood may occur due to end-stage renal disease | rel=r_associated | relid=0 | w=30
  3123. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death in early childhood has been reported in some presumed homozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:death in early childhood has been reported in some presumed homozygotes | rel=r_associated | relid=0 | w=30
  3124. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy | rel=r_associated | relid=0 | w=30
  3125. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death in third or fourth decades, usually due to respiratory infection
    n1=en:one patient reported (last curated november 2012) | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=30
  3126. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death in utero or in the perinatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:death in utero or in the perinatal period | rel=r_associated | relid=0 | w=30
  3127. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death occurs 10 to 20 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:death occurs 10 to 20 years after onset | rel=r_associated | relid=0 | w=30
  3128. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:death usually in teenage years
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in teenage years | rel=r_associated | relid=0 | w=30
  3129. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:delayed separation of umbilical cord
    n1=en:one patient reported (last curated november 2012) | n2=en:delayed separation of umbilical cord | rel=r_associated | relid=0 | w=30
  3130. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:deletion sizes range from 287kb to 4.4mb
    n1=en:one patient reported (last curated november 2012) | n2=en:deletion sizes range from 287kb to 4.4mb | rel=r_associated | relid=0 | w=30
  3131. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:described in 3 unrelated infants (last curated january 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:described in 3 unrelated infants (last curated january 2013) | rel=r_associated | relid=0 | w=30
  3132. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:described in families from western japan
    n1=en:one patient reported (last curated november 2012) | n2=en:described in families from western japan | rel=r_associated | relid=0 | w=30
  3133. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:described in single afrikaner family
    n1=en:one patient reported (last curated november 2012) | n2=en:described in single afrikaner family | rel=r_associated | relid=0 | w=30
  3134. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3135. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:diagnosed in second or third decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=30
  3136. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:diamond-blackfan anemia 11
    n1=en:one patient reported (last curated november 2012) | n2=en:diamond-blackfan anemia 11 | rel=r_associated | relid=0 | w=30
  3137. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes
    n1=en:one patient reported (last curated november 2012) | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | rel=r_associated | relid=0 | w=30
  3138. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes
    n1=en:one patient reported (last curated november 2012) | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | rel=r_associated | relid=0 | w=30
  3139. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:does not lead to hepatic failure
    n1=en:one patient reported (last curated november 2012) | n2=en:does not lead to hepatic failure | rel=r_associated | relid=0 | w=30
  3140. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:dopa-responsive rigidity
    n1=en:one patient reported (last curated november 2012) | n2=en:dopa-responsive rigidity | rel=r_associated | relid=0 | w=30
  3141. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications
    n1=en:one patient reported (last curated november 2012) | n2=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | rel=r_associated | relid=0 | w=30
  3142. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:dysmorphic features are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic features are variable | rel=r_associated | relid=0 | w=30
  3143. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:dysmorphic features were only reported in 1 patient
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic features were only reported in 1 patient | rel=r_associated | relid=0 | w=30
  3144. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:dystonia and seizures may persist after resolution of episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:dystonia and seizures may persist after resolution of episodes | rel=r_associated | relid=0 | w=30
  3145. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:dystonia is usually focal or segmental
    n1=en:one patient reported (last curated november 2012) | n2=en:dystonia is usually focal or segmental | rel=r_associated | relid=0 | w=30
  3146. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:earlier onset associated with increased severity
    n1=en:one patient reported (last curated november 2012) | n2=en:earlier onset associated with increased severity | rel=r_associated | relid=0 | w=30
  3147. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:earlier onset is associated with more rapid progression
    n1=en:one patient reported (last curated november 2012) | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=30
  3148. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:earliest age of onset 12 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:earliest age of onset 12 years of age | rel=r_associated | relid=0 | w=30
  3149. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early death (mean age 13 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:early death (mean age 13 months) | rel=r_associated | relid=0 | w=30
  3150. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early death in some patients due to cardiorespiratory involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:early death in some patients due to cardiorespiratory involvement | rel=r_associated | relid=0 | w=30
  3151. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early death may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:early death may occur | rel=r_associated | relid=0 | w=30
  3152. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae
    n1=en:one patient reported (last curated november 2012) | n2=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | rel=r_associated | relid=0 | w=30
  3153. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early lethality in most cases
    n1=en:one patient reported (last curated november 2012) | n2=en:early lethality in most cases | rel=r_associated | relid=0 | w=30
  3154. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early onset has rarely been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset has rarely been reported | rel=r_associated | relid=0 | w=30
  3155. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early-onset associated with more severe course and early death
    n1=en:one patient reported (last curated november 2012) | n2=en:early-onset associated with more severe course and early death | rel=r_associated | relid=0 | w=30
  3156. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:early-onset severe renal disease
    n1=en:one patient reported (last curated november 2012) | n2=en:early-onset severe renal disease | rel=r_associated | relid=0 | w=30
  3157. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3158. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:episodes last 2 days to 1 week
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes last 2 days to 1 week | rel=r_associated | relid=0 | w=30
  3159. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:erythema often triggered by sudden temperature change or emotional stress
    n1=en:one patient reported (last curated november 2012) | n2=en:erythema often triggered by sudden temperature change or emotional stress | rel=r_associated | relid=0 | w=30
  3160. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:estimated incidence of 1 in 17,000
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated incidence of 1 in 17,000 | rel=r_associated | relid=0 | w=30
  3161. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:eye and vestibular findings were found in some members of one family
    n1=en:one patient reported (last curated november 2012) | n2=en:eye and vestibular findings were found in some members of one family | rel=r_associated | relid=0 | w=30
  3162. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood | rel=r_associated | relid=0 | w=30
  3163. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:fatal without lung transplant
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal without lung transplant | rel=r_associated | relid=0 | w=30
  3164. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:favorable response to alcohol
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to alcohol | rel=r_associated | relid=0 | w=30
  3165. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:favorable response to cholinesterase inhibitors
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to cholinesterase inhibitors | rel=r_associated | relid=0 | w=30
  3166. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:favorable response to l-dopa
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to l-dopa | rel=r_associated | relid=0 | w=30
  3167. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:favorable response to oral creatine treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to oral creatine treatment | rel=r_associated | relid=0 | w=30
  3168. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | rel=r_associated | relid=0 | w=30
  3169. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:female carriers exhibit short stature
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers exhibit short stature | rel=r_associated | relid=0 | w=30
  3170. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:female carriers may have mild mental retardation
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have mild mental retardation | rel=r_associated | relid=0 | w=30
  3171. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:females more severely affected than males
    n1=en:one patient reported (last curated november 2012) | n2=en:females more severely affected than males | rel=r_associated | relid=0 | w=30
  3172. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:findings in muscle biopsy may be variable
    n1=en:one patient reported (last curated november 2012) | n2=en:findings in muscle biopsy may be variable | rel=r_associated | relid=0 | w=30
  3173. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada
    n1=en:one patient reported (last curated november 2012) | n2=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | rel=r_associated | relid=0 | w=30
  3174. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:first fracture in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=30
  3175. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=30
  3176. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:five patients have been reported (as of 8/2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:five patients have been reported (as of 8/2011) | rel=r_associated | relid=0 | w=30
  3177. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:foot dragging may appear in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:foot dragging may appear in childhood | rel=r_associated | relid=0 | w=30
  3178. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:four clinically indistinguishable biochemically distinct forms
    n1=en:one patient reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms | rel=r_associated | relid=0 | w=30
  3179. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:four unrelated boys have been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated boys have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3180. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:four unrelated families have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3181. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:four unrelated patients have been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3182. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:four unrelated patients have been reported (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=30
  3183. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:frequency 1/100,000 - 1/130,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency 1/100,000 - 1/130,000 live births | rel=r_associated | relid=0 | w=30
  3184. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:frequency of attacks may decrease with age or during pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency of attacks may decrease with age or during pregnancy | rel=r_associated | relid=0 | w=30
  3185. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:gastric suction pump, home model, portable or stationary, electric
    n1=en:one patient reported (last curated november 2012) | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=30
  3186. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | rel=r_associated | relid=0 | w=30
  3187. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (bor2, 610896)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (bor2, 610896) | rel=r_associated | relid=0 | w=30
  3188. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=30
  3189. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 607634)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 607634) | rel=r_associated | relid=0 | w=30
  3190. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cmt4a 214400)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmt4a 214400) | rel=r_associated | relid=0 | w=30
  3191. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cmt4b1, 601382)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmt4b1, 601382) | rel=r_associated | relid=0 | w=30
  3192. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=30
  3193. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see etl2, 608096)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see etl2, 608096) | rel=r_associated | relid=0 | w=30
  3194. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see gefs+, 604233)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see gefs+, 604233) | rel=r_associated | relid=0 | w=30
  3195. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | rel=r_associated | relid=0 | w=30
  3196. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see rmd1, 600332)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see rmd1, 600332) | rel=r_associated | relid=0 | w=30
  3197. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see, e.g., 608631, 300494, 300497)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | rel=r_associated | relid=0 | w=30
  3198. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | rel=r_associated | relid=0 | w=30
  3199. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:genomic duplications occur de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:genomic duplications occur de novo | rel=r_associated | relid=0 | w=30
  3200. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:germline and somatic mutations contribute to this disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:germline and somatic mutations contribute to this disorder | rel=r_associated | relid=0 | w=30
  3201. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:gonadal mosaicism may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:gonadal mosaicism may occur | rel=r_associated | relid=0 | w=30
  3202. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:good response to gaba-enhancing medications
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to gaba-enhancing medications | rel=r_associated | relid=0 | w=30
  3203. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:good response to levodopa treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to levodopa treatment | rel=r_associated | relid=0 | w=30
  3204. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:good response to phosphate treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to phosphate treatment | rel=r_associated | relid=0 | w=30
  3205. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:gradual progression of hearing loss
    n1=en:one patient reported (last curated november 2012) | n2=en:gradual progression of hearing loss | rel=r_associated | relid=0 | w=30
  3206. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:greater expression in females
    n1=en:one patient reported (last curated november 2012) | n2=en:greater expression in females | rel=r_associated | relid=0 | w=30
  3207. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hands clenched at birth but loosen in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=30
  3208. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:haploinsufficiency of rps14 (130620)
    n1=en:one patient reported (last curated november 2012) | n2=en:haploinsufficiency of rps14 (130620) | rel=r_associated | relid=0 | w=30
  3209. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hearing loss and ocular findings are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss and ocular findings are variable | rel=r_associated | relid=0 | w=30
  3210. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hearing loss is congenital and nonprogressive
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss is congenital and nonprogressive | rel=r_associated | relid=0 | w=30
  3211. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hearing loss is pre- or perilingual in onset
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss is pre- or perilingual in onset | rel=r_associated | relid=0 | w=30
  3212. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hearing loss may be stable or progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss may be stable or progressive | rel=r_associated | relid=0 | w=30
  3213. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hemolysis may be exercise-induced
    n1=en:one patient reported (last curated november 2012) | n2=en:hemolysis may be exercise-induced | rel=r_associated | relid=0 | w=30
  3214. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | rel=r_associated | relid=0 | w=30
  3215. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:heterozygous females may have gout and/or sensorineural deafness
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous females may have gout and/or sensorineural deafness | rel=r_associated | relid=0 | w=30
  3216. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | rel=r_associated | relid=0 | w=30
  3217. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:high frequency in finnish population
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in finnish population | rel=r_associated | relid=0 | w=30
  3218. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:high frequency of de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency of de novo mutations | rel=r_associated | relid=0 | w=30
  3219. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:high incidence in iraqis and sephardic jewish individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:high incidence in iraqis and sephardic jewish individuals | rel=r_associated | relid=0 | w=30
  3220. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype and age of onset
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype and age of onset | rel=r_associated | relid=0 | w=30
  3221. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype, ranging from asymptomatic to severe
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=30
  3222. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | rel=r_associated | relid=0 | w=30
  3223. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup
    n1=en:one patient reported (last curated november 2012) | n2=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | rel=r_associated | relid=0 | w=30
  3224. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy'
    n1=en:one patient reported (last curated november 2012) | n2=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | rel=r_associated | relid=0 | w=30
  3225. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome | rel=r_associated | relid=0 | w=30
  3226. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:homozygotes have earlier onset and a more severe disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:homozygotes have earlier onset and a more severe disorder | rel=r_associated | relid=0 | w=30
  3227. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
    n1=en:one patient reported (last curated november 2012) | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=30
  3228. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin
    n1=en:one patient reported (last curated november 2012) | 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=30
  3229. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:hyperpigmented patches increased in size and number with age
    n1=en:one patient reported (last curated november 2012) | n2=en:hyperpigmented patches increased in size and number with age | rel=r_associated | relid=0 | w=30
  3230. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:improvement with age
    n1=en:one patient reported (last curated november 2012) | n2=en:improvement with age | rel=r_associated | relid=0 | w=30
  3231. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | rel=r_associated | relid=0 | w=30
  3232. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:in most cases capillary lesions are multifocal at birth and may increase in number with age
    n1=en:one patient reported (last curated november 2012) | n2=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | rel=r_associated | relid=0 | w=30
  3233. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence 1 in 50,000-100,000 in western europe
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1 in 50,000-100,000 in western europe | rel=r_associated | relid=0 | w=30
  3234. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence 1/20,000-1/64,000 male births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1/20,000-1/64,000 male births | rel=r_associated | relid=0 | w=30
  3235. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence in finland is 1 in 76,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence in finland is 1 in 76,000 births | rel=r_associated | relid=0 | w=30
  3236. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 100,000 births in caucasians
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 100,000 births in caucasians | rel=r_associated | relid=0 | w=30
  3237. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 25,000 to 1 in 50,000 newborns
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | rel=r_associated | relid=0 | w=30
  3238. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 6,000 males
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 6,000 males | rel=r_associated | relid=0 | w=30
  3239. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence of 1/100,000 in italy and finland
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1/100,000 in italy and finland | rel=r_associated | relid=0 | w=30
  3240. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incidence of 12.2 per 100,000 in finland
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 12.2 per 100,000 in finland | rel=r_associated | relid=0 | w=30
  3241. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incomplete penetance of some features
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetance of some features | rel=r_associated | relid=0 | w=30
  3242. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance of optic atrophy
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=30
  3243. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:incomplete, age-associated penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete, age-associated penetrance | rel=r_associated | relid=0 | w=30
  3244. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:increased frequency among individuals of east asian descent
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency among individuals of east asian descent | rel=r_associated | relid=0 | w=30
  3245. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:increased frequency in persian jews (1:1,300)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in persian jews (1:1,300) | rel=r_associated | relid=0 | w=30
  3246. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> 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:one patient reported (last curated november 2012) | 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=30
  3247. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:increased prevalence in persons of ashkenazi jewish descent
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence in persons of ashkenazi jewish descent | rel=r_associated | relid=0 | w=30
  3248. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:individuals do not develop erythrocytosis under hypoxic conditions
    n1=en:one patient reported (last curated november 2012) | n2=en:individuals do not develop erythrocytosis under hypoxic conditions | rel=r_associated | relid=0 | w=30
  3249. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:infantile form accounts for 90% of cases
    n1=en:one patient reported (last curated november 2012) | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=30
  3250. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:infantile onset
    n1=en:one patient reported (last curated november 2012) | n2=en:infantile onset | rel=r_associated | relid=0 | w=30
  3251. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:intrafamilial variability in degree of nail involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variability in degree of nail involvement | rel=r_associated | relid=0 | w=30
  3252. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:intrafamilial variation
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variation | rel=r_associated | relid=0 | w=30
  3253. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:involuntary and nonvolitional phenomenon
    n1=en:one patient reported (last curated november 2012) | n2=en:involuntary and nonvolitional phenomenon | rel=r_associated | relid=0 | w=30
  3254. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:isolated finding
    n1=en:one patient reported (last curated november 2012) | n2=en:isolated finding | rel=r_associated | relid=0 | w=30
  3255. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:joint laxity decreases with age
    n1=en:one patient reported (last curated november 2012) | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=30
  3256. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:juvenile absence epilepsy (jae, 607631)
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile absence epilepsy (jae, 607631) | rel=r_associated | relid=0 | w=30
  3257. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:keratitis-ichthyosis-deafness syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:keratitis-ichthyosis-deafness syndrome | rel=r_associated | relid=0 | w=30
  3258. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:ketogenic diet may be effective
    n1=en:one patient reported (last curated november 2012) | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=30
  3259. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:later onset of ophthalmoparesis
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset of ophthalmoparesis | rel=r_associated | relid=0 | w=30
  3260. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:lethal in the neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:lethal in the neonatal period | rel=r_associated | relid=0 | w=30
  3261. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:life-threatening in infancy due to sepsis
    n1=en:one patient reported (last curated november 2012) | n2=en:life-threatening in infancy due to sepsis | rel=r_associated | relid=0 | w=30
  3262. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:likely allelic to sc phocomelia syndrome (269000)
    n1=en:one patient reported (last curated november 2012) | n2=en:likely allelic to sc phocomelia syndrome (269000) | rel=r_associated | relid=0 | w=30
  3263. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features
    n1=en:one patient reported (last curated november 2012) | n2=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=30
  3264. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:liver involvement can range from mild to severe
    n1=en:one patient reported (last curated november 2012) | n2=en:liver involvement can range from mild to severe | rel=r_associated | relid=0 | w=30
  3265. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:liver symptoms improve with age and disappear after puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=30
  3266. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:long headache duration (greater than 12 hours)
    n1=en:one patient reported (last curated november 2012) | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=30
  3267. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:loss of ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=30
  3268. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:major cause of death is heart failure
    n1=en:one patient reported (last curated november 2012) | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=30
  3269. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:majority of cases in japan
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases in japan | rel=r_associated | relid=0 | w=30
  3270. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | rel=r_associated | relid=0 | w=30
  3271. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:marked variability in the deletion size
    n1=en:one patient reported (last curated november 2012) | n2=en:marked variability in the deletion size | rel=r_associated | relid=0 | w=30
  3272. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)
    n1=en:one patient reported (last curated november 2012) | n2=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | rel=r_associated | relid=0 | w=30
  3273. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))
    n1=en:one patient reported (last curated november 2012) | n2=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | rel=r_associated | relid=0 | w=30
  3274. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:may be asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=30
  3275. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:may be due to imprinting defect
    n1=en:one patient reported (last curated november 2012) | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=30
  3276. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:may be same disorder as autosomal recessive optic atrophy 3 (258501)
    n1=en:one patient reported (last curated november 2012) | n2=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | rel=r_associated | relid=0 | w=30
  3277. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:may be triggered by increased practice
    n1=en:one patient reported (last curated november 2012) | n2=en:may be triggered by increased practice | rel=r_associated | relid=0 | w=30
  3278. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:may have less severe phenotype than rsts patients with crebbp mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:may have less severe phenotype than rsts patients with crebbp mutations | rel=r_associated | relid=0 | w=30
  3279. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:may respond to cholinesterase inhibitors of amifampridine
    n1=en:one patient reported (last curated november 2012) | n2=en:may respond to cholinesterase inhibitors of amifampridine | rel=r_associated | relid=0 | w=30
  3280. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 16.5 years (range 9 to 35 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 16.5 years (range 9 to 35 years) | rel=r_associated | relid=0 | w=30
  3281. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mean age at onset is 10.4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset is 10.4 years | rel=r_associated | relid=0 | w=30
  3282. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)
    n1=en:one patient reported (last curated november 2012) | 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=30
  3283. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mean age of diagnosis of renal cell carcinoma is 46 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of diagnosis of renal cell carcinoma is 46 years | rel=r_associated | relid=0 | w=30
  3284. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mean age of onset 30 years (range 25-42)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=30
  3285. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:middle age onset
    n1=en:one patient reported (last curated november 2012) | n2=en:middle age onset | rel=r_associated | relid=0 | w=30
  3286. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:milder expression in female heterozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:milder expression in female heterozygotes | rel=r_associated | relid=0 | w=30
  3287. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out
    n1=en:one patient reported (last curated november 2012) | n2=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | rel=r_associated | relid=0 | w=30
  3288. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mortality, premature
    n1=en:one patient reported (last curated november 2012) | n2=en:mortality, premature | rel=r_associated | relid=0 | w=30
  3289. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most case are sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:most case are sporadic | rel=r_associated | relid=0 | w=30
  3290. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most cases are autosomal dominant, recessive inheritance has rarely been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | rel=r_associated | relid=0 | w=30
  3291. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most cases do not have mutations in the mapt gene, but map to chromosome 17q
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | rel=r_associated | relid=0 | w=30
  3292. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most cases result from de novo mutation or deletion of rai1 (607642)
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases result from de novo mutation or deletion of rai1 (607642) | rel=r_associated | relid=0 | w=30
  3293. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)
    n1=en:one patient reported (last curated november 2012) | n2=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | rel=r_associated | relid=0 | w=30
  3294. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most individuals are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:most individuals are asymptomatic | rel=r_associated | relid=0 | w=30
  3295. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients are clinically asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are clinically asymptomatic | rel=r_associated | relid=0 | w=30
  3296. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients are severely affected
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are severely affected | rel=r_associated | relid=0 | w=30
  3297. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients are stillborn or die in immediate neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are stillborn or die in immediate neonatal period | rel=r_associated | relid=0 | w=30
  3298. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients become seizure-free by age 3 or 4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become seizure-free by age 3 or 4 years | rel=r_associated | relid=0 | w=30
  3299. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become wheelchair-bound | rel=r_associated | relid=0 | w=30
  3300. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients become wheelchair-bound in adolescence or as young adults
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become wheelchair-bound in adolescence or as young adults | rel=r_associated | relid=0 | w=30
  3301. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients die in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die in childhood | rel=r_associated | relid=0 | w=30
  3302. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients die in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die in infancy | rel=r_associated | relid=0 | w=30
  3303. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients die of renal failure in early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die of renal failure in early adulthood | rel=r_associated | relid=0 | w=30
  3304. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients die within the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die within the first year of life | rel=r_associated | relid=0 | w=30
  3305. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:most patients require renal transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients require renal transplantation | rel=r_associated | relid=0 | w=30
  3306. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:motor symptoms show mild clinical improvement with levodopa treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:motor symptoms show mild clinical improvement with levodopa treatment | rel=r_associated | relid=0 | w=30
  3307. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:multiple congenital anomalies
    n1=en:one patient reported (last curated november 2012) | n2=en:multiple congenital anomalies | rel=r_associated | relid=0 | w=30
  3308. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)
    n1=en:one patient reported (last curated november 2012) | n2=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | rel=r_associated | relid=0 | w=30
  3309. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mutation carriers may show toxicity to 5-fluorouracil (5fu)
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=30
  3310. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | rel=r_associated | relid=0 | w=30
  3311. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:nails may be intermittently involved
    n1=en:one patient reported (last curated november 2012) | n2=en:nails may be intermittently involved | rel=r_associated | relid=0 | w=30
  3312. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:nails, palms, and soles are spared in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:nails, palms, and soles are spared in some patients | rel=r_associated | relid=0 | w=30
  3313. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:natural aversion to carbohydrates
    n1=en:one patient reported (last curated november 2012) | n2=en:natural aversion to carbohydrates | rel=r_associated | relid=0 | w=30
  3314. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)
    n1=en:one patient reported (last curated november 2012) | n2=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | rel=r_associated | relid=0 | w=30
  3315. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:neonatal death secondary to pulmonary insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal death secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=30
  3316. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:neonatal severe hyperparathyroidism in homozygotes (239200)
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal severe hyperparathyroidism in homozygotes (239200) | rel=r_associated | relid=0 | w=30
  3317. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:neurologic features are variable and not progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic features are variable and not progressive | rel=r_associated | relid=0 | w=30
  3318. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:night blindness from early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:night blindness from early childhood | rel=r_associated | relid=0 | w=30
  3319. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:no clinical description given for 1 reported patient (last curated december 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:no clinical description given for 1 reported patient (last curated december 2013) | rel=r_associated | relid=0 | w=30
  3320. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:no features consistent with cystic fibrosis found in these patients
    n1=en:one patient reported (last curated november 2012) | n2=en:no features consistent with cystic fibrosis found in these patients | rel=r_associated | relid=0 | w=30
  3321. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:no history of familial hypercholesterolemia
    n1=en:one patient reported (last curated november 2012) | n2=en:no history of familial hypercholesterolemia | rel=r_associated | relid=0 | w=30
  3322. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:no increased fragility of hair
    n1=en:one patient reported (last curated november 2012) | n2=en:no increased fragility of hair | rel=r_associated | relid=0 | w=30
  3323. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:no mutations reported in la reunion island patients (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:no mutations reported in la reunion island patients (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3324. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:normal fertility
    n1=en:one patient reported (last curated november 2012) | n2=en:normal fertility | rel=r_associated | relid=0 | w=30
  3325. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:normal neonatal course
    n1=en:one patient reported (last curated november 2012) | n2=en:normal neonatal course | rel=r_associated | relid=0 | w=30
  3326. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:normal sclerae and teeth
    n1=en:one patient reported (last curated november 2012) | n2=en:normal sclerae and teeth | rel=r_associated | relid=0 | w=30
  3327. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:not all patients have all features
    n1=en:one patient reported (last curated november 2012) | n2=en:not all patients have all features | rel=r_associated | relid=0 | w=30
  3328. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:not all patients have renal involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:not all patients have renal involvement | rel=r_associated | relid=0 | w=30
  3329. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:nystagmus may disappear by mid-childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:nystagmus may disappear by mid-childhood | rel=r_associated | relid=0 | w=30
  3330. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:occurs at age 20-50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs at age 20-50 years | rel=r_associated | relid=0 | w=30
  3331. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:occurs in ~3% pregnancies in western populations
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in ~3% pregnancies in western populations | rel=r_associated | relid=0 | w=30
  3332. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:occurs more frequently in females
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs more frequently in females | rel=r_associated | relid=0 | w=30
  3333. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:occurs most often between 5 and 15 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs most often between 5 and 15 years of age | rel=r_associated | relid=0 | w=30
  3334. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:often associated with chiari type i malformation (cm1, 118420)
    n1=en:one patient reported (last curated november 2012) | n2=en:often associated with chiari type i malformation (cm1, 118420) | rel=r_associated | relid=0 | w=30
  3335. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=30
  3336. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one consanguineous family has been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3337. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one consanguineous family has been reported (last curated november 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=30
  3338. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one consanguineous italian family has been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous italian family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3339. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one consanguineous pakistani family has been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3340. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one consanguineous turkish family has been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous turkish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3341. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family (4 affected members) has been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family (4 affected members) has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=30
  3342. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family and 2 unrelated patients have been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=30
  3343. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported | rel=r_associated | relid=0 | w=30
  3344. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated december 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=30
  3345. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated june 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=30
  3346. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family reported (as of november 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (as of november 2011) | rel=r_associated | relid=0 | w=30
  3347. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family with 2 affected brothers has been reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 2 affected brothers has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  3348. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family with 3 affected individuals has been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 3 affected individuals has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  3349. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011)
    n1=en:one patient reported (last curated november 2012) | 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=30
  3350. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one family with 6 probands described (as of september 2000)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 6 probands described (as of september 2000) | rel=r_associated | relid=0 | w=30
  3351. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one french family has been reported (last curated march 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one french family has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=30
  3352. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3353. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one large family has been reported (as of 2008)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large family has been reported (as of 2008) | rel=r_associated | relid=0 | w=30
  3354. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one pakistani reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one pakistani reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  3355. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3356. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one patient had onset at age 4 months after normal development
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient had onset at age 4 months after normal development | rel=r_associated | relid=0 | w=30
  3357. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3358. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (last curated november 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated november 2010) | rel=r_associated | relid=0 | w=30
  3359. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=30
  3360. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=30
  3361. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one patient with a homozygous mutation has been reported (as of 14 june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | rel=r_associated | relid=0 | w=30
  3362. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:one spanish family has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one spanish family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3363. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:only 10% develop hypertension at 18 years of age or less
    n1=en:one patient reported (last curated november 2012) | n2=en:only 10% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=30
  3364. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset age 32 to 45 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset age 32 to 45 years | rel=r_associated | relid=0 | w=30
  3365. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset as neonate
    n1=en:one patient reported (last curated november 2012) | n2=en:onset as neonate | rel=r_associated | relid=0 | w=30
  3366. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset at 4 to 10 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 4 to 10 years | rel=r_associated | relid=0 | w=30
  3367. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset at age 3-5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at age 3-5 years | rel=r_associated | relid=0 | w=30
  3368. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset at birth or early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at birth or early infancy | rel=r_associated | relid=0 | w=30
  3369. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset before adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before adolescence | rel=r_associated | relid=0 | w=30
  3370. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset before age 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before age 5 years | rel=r_associated | relid=0 | w=30
  3371. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset between 1-3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 1-3 years | rel=r_associated | relid=0 | w=30
  3372. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset between 10 and 20 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 10 and 20 years of age | rel=r_associated | relid=0 | w=30
  3373. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset between 6 and 14 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 6 and 14 years | rel=r_associated | relid=0 | w=30
  3374. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset between 6 and 16 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 6 and 16 years of age | rel=r_associated | relid=0 | w=30
  3375. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset between age 4 to 7 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between age 4 to 7 months | rel=r_associated | relid=0 | w=30
  3376. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset by 1 year of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset by 1 year of age | rel=r_associated | relid=0 | w=30
  3377. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in childhood (range infancy to 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range infancy to 10 years) | rel=r_associated | relid=0 | w=30
  3378. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in childhood or adolescence (median age of 9 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or adolescence (median age of 9 years) | rel=r_associated | relid=0 | w=30
  3379. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in childhood with exacerbation during puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood with exacerbation during puberty | rel=r_associated | relid=0 | w=30
  3380. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in childhood, but most noticeable in mid-teens and early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood, but most noticeable in mid-teens and early adulthood | rel=r_associated | relid=0 | w=30
  3381. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early infancy | rel=r_associated | relid=0 | w=30
  3382. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in first 6 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first 6 months of life | rel=r_associated | relid=0 | w=30
  3383. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in first decade (average 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade (average 5 years) | rel=r_associated | relid=0 | w=30
  3384. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade of life | rel=r_associated | relid=0 | w=30
  3385. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in first few years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first few years of life | rel=r_associated | relid=0 | w=30
  3386. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in infancy and early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy and early childhood | rel=r_associated | relid=0 | w=30
  3387. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in infancy or early childhood (before age 3 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or early childhood (before age 3 years) | rel=r_associated | relid=0 | w=30
  3388. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in infancy or late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or late childhood | rel=r_associated | relid=0 | w=30
  3389. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in late teens to twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late teens to twenties | rel=r_associated | relid=0 | w=30
  3390. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in lower limbs
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in lower limbs | rel=r_associated | relid=0 | w=30
  3391. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in males in first to third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in males in first to third decade | rel=r_associated | relid=0 | w=30
  3392. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset in third to fourth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in third to fourth decade | rel=r_associated | relid=0 | w=30
  3393. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset is usually in childhood or adolescence (2 to 18 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset is usually in childhood or adolescence (2 to 18 years) | rel=r_associated | relid=0 | w=30
  3394. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset late childhood | rel=r_associated | relid=0 | w=30
  3395. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset may be prelingual or in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset may be prelingual or in childhood | rel=r_associated | relid=0 | w=30
  3396. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset occurs earlier in males than females
    n1=en:one patient reported (last curated november 2012) | n2=en:onset occurs earlier in males than females | rel=r_associated | relid=0 | w=30
  3397. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of alopecia in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of alopecia in infancy | rel=r_associated | relid=0 | w=30
  3398. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of ataxia and neuropathy in early twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of ataxia and neuropathy in early twenties | rel=r_associated | relid=0 | w=30
  3399. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of ataxia in early childhood (range 15 months to 3 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of ataxia in early childhood (range 15 months to 3 years) | rel=r_associated | relid=0 | w=30
  3400. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of cardiac symptoms in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of cardiac symptoms in adolescence | rel=r_associated | relid=0 | w=30
  3401. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of choreoathetosis in childhood or young adult (6-23 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of choreoathetosis in childhood or young adult (6-23 years) | rel=r_associated | relid=0 | w=30
  3402. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of disease before 7 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease before 7 years of age | rel=r_associated | relid=0 | w=30
  3403. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of disease between 25 and 40 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease between 25 and 40 years of age | rel=r_associated | relid=0 | w=30
  3404. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of dystonia is in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of dystonia is in childhood | rel=r_associated | relid=0 | w=30
  3405. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of fracture usually when child begins to walk
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of fracture usually when child begins to walk | rel=r_associated | relid=0 | w=30
  3406. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of hearing loss prior to or during adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss prior to or during adolescence | rel=r_associated | relid=0 | w=30
  3407. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of hypoglycemia and hyperinsulinism in the neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | rel=r_associated | relid=0 | w=30
  3408. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of lymphedema before puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of lymphedema before puberty | rel=r_associated | relid=0 | w=30
  3409. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of malignancy can occur throughout life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of malignancy can occur throughout life | rel=r_associated | relid=0 | w=30
  3410. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of neurologic disease in early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of neurologic disease in early adulthood | rel=r_associated | relid=0 | w=30
  3411. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of optic atrophy in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of optic atrophy in infancy or early childhood | rel=r_associated | relid=0 | w=30
  3412. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of other symptoms in adolescence or early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of other symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=30
  3413. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of sleep terrors between age 4 and 12 years old
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of sleep terrors between age 4 and 12 years old | rel=r_associated | relid=0 | w=30
  3414. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms in second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in second decade of life | rel=r_associated | relid=0 | w=30
  3415. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms within the first 2 decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms within the first 2 decades of life | rel=r_associated | relid=0 | w=30
  3416. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset of vision loss in young adulthood (<20 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of vision loss in young adulthood (<20 years) | rel=r_associated | relid=0 | w=30
  3417. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually before age 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually before age 40 years | rel=r_associated | relid=0 | w=30
  3418. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually before age 40 years (range 15 to 55)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually before age 40 years (range 15 to 55) | rel=r_associated | relid=0 | w=30
  3419. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually by age 2 years | rel=r_associated | relid=0 | w=30
  3420. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in adolescence | rel=r_associated | relid=0 | w=30
  3421. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually in second decade of life, although earlier and later onset have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in second decade of life, although earlier and later onset have been reported | rel=r_associated | relid=0 | w=30
  3422. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually in the third decade (range 11 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in the third decade (range 11 to 50 years) | rel=r_associated | relid=0 | w=30
  3423. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually in third decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in third decade of life | rel=r_associated | relid=0 | w=30
  3424. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset usually in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in young adulthood | rel=r_associated | relid=0 | w=30
  3425. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:onset within first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset within first year of life | rel=r_associated | relid=0 | w=30
  3426. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:oral supplementation with ubiquinone does not result in major clinical improvement
    n1=en:one patient reported (last curated november 2012) | n2=en:oral supplementation with ubiquinone does not result in major clinical improvement | rel=r_associated | relid=0 | w=30
  3427. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)
    n1=en:one patient reported (last curated november 2012) | n2=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | rel=r_associated | relid=0 | w=30
  3428. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:painful cramping following ischemic exercise test
    n1=en:one patient reported (last curated november 2012) | n2=en:painful cramping following ischemic exercise test | rel=r_associated | relid=0 | w=30
  3429. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)
    n1=en:one patient reported (last curated november 2012) | n2=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | rel=r_associated | relid=0 | w=30
  3430. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:partially responsive to laser treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:partially responsive to laser treatment | rel=r_associated | relid=0 | w=30
  3431. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period
    n1=en:one patient reported (last curated november 2012) | 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=30
  3432. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patient with truncating mutations are more likely to develop neurologic abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:patient with truncating mutations are more likely to develop neurologic abnormalities | rel=r_associated | relid=0 | w=30
  3433. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients have a distinctive shallow u-shaped audiogram
    n1=en:one patient reported (last curated november 2012) | n2=en:patients have a distinctive shallow u-shaped audiogram | rel=r_associated | relid=0 | w=30
  3434. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3435. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients may present with either renal or neurologic symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may present with either renal or neurologic symptoms | rel=r_associated | relid=0 | w=30
  3436. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients may show both optic neuropathy and dystonia or only 1 disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may show both optic neuropathy and dystonia or only 1 disorder | rel=r_associated | relid=0 | w=30
  3437. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system
    n1=en:one patient reported (last curated november 2012) | n2=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | rel=r_associated | relid=0 | w=30
  3438. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients older than 60 years have severe degenerative arthritis in the feet
    n1=en:one patient reported (last curated november 2012) | n2=en:patients older than 60 years have severe degenerative arthritis in the feet | rel=r_associated | relid=0 | w=30
  3439. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients present at birth with respiratory distress or poor head control
    n1=en:one patient reported (last curated november 2012) | n2=en:patients present at birth with respiratory distress or poor head control | rel=r_associated | relid=0 | w=30
  3440. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients with atypical form have milder disease, with onset in the first months of life and increased survival
    n1=en:one patient reported (last curated november 2012) | 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=30
  3441. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | rel=r_associated | relid=0 | w=30
  3442. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | rel=r_associated | relid=0 | w=30
  3443. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients with later onset have better prognosis
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with later onset have better prognosis | rel=r_associated | relid=0 | w=30
  3444. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
    n1=en:one patient reported (last curated november 2012) | 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=30
  3445. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients with mutation in the nhlrc1 gene have slightly longer survival
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with mutation in the nhlrc1 gene have slightly longer survival | rel=r_associated | relid=0 | w=30
  3446. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:patients with total c4 deficiency are homozygous for double null c4 haplotype
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | rel=r_associated | relid=0 | w=30
  3447. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:peak age of onset in second decade (range childhood to 76 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:peak age of onset in second decade (range childhood to 76 years) | rel=r_associated | relid=0 | w=30
  3448. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | rel=r_associated | relid=0 | w=30
  3449. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:persistent bleeding after trauma
    n1=en:one patient reported (last curated november 2012) | n2=en:persistent bleeding after trauma | rel=r_associated | relid=0 | w=30
  3450. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:phenotype may be exacerbated by maltreatment in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype may be exacerbated by maltreatment in childhood | rel=r_associated | relid=0 | w=30
  3451. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:phenotype may or may not be consistent within a family.
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype may or may not be consistent within a family. | rel=r_associated | relid=0 | w=30
  3452. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | rel=r_associated | relid=0 | w=30
  3453. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | rel=r_associated | relid=0 | w=30
  3454. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | rel=r_associated | relid=0 | w=30
  3455. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:phenotypic variation
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic variation | rel=r_associated | relid=0 | w=30
  3456. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:polg mutations account for approximately 45% of all peo cases
    n1=en:one patient reported (last curated november 2012) | n2=en:polg mutations account for approximately 45% of all peo cases | rel=r_associated | relid=0 | w=30
  3457. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:possible x-linked inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:possible x-linked inheritance | rel=r_associated | relid=0 | w=30
  3458. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:possibly allelic to cohen syndrome (216550)
    n1=en:one patient reported (last curated november 2012) | n2=en:possibly allelic to cohen syndrome (216550) | rel=r_associated | relid=0 | w=30
  3459. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
    n1=en:one patient reported (last curated november 2012) | 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=30
  3460. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | rel=r_associated | relid=0 | w=30
  3461. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:prevalence in the finnish population of 5.8 per million
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in the finnish population of 5.8 per million | rel=r_associated | relid=0 | w=30
  3462. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:prevalence of 1 in 1,500
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 1,500 | rel=r_associated | relid=0 | w=30
  3463. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:prevalence of 1 in 200,000 to 1 in 800,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 200,000 to 1 in 800,000 | rel=r_associated | relid=0 | w=30
  3464. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:prevalence of 1 in 40,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 40,000 | rel=r_associated | relid=0 | w=30
  3465. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:prevalence of approximately 1 in 2000 individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of approximately 1 in 2000 individuals | rel=r_associated | relid=0 | w=30
  3466. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:prevalence of essential tremor ranges from 0.4 to 6% in the general population
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | rel=r_associated | relid=0 | w=30
  3467. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:prevalent in bulgarian gypsies
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in bulgarian gypsies | rel=r_associated | relid=0 | w=30
  3468. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:progression to profound hearing loss affecting all frequencies
    n1=en:one patient reported (last curated november 2012) | n2=en:progression to profound hearing loss affecting all frequencies | rel=r_associated | relid=0 | w=30
  3469. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:protracted course
    n1=en:one patient reported (last curated november 2012) | n2=en:protracted course | rel=r_associated | relid=0 | w=30
  3470. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:rapid disease progression from ages 40 to 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:rapid disease progression from ages 40 to 50 years | rel=r_associated | relid=0 | w=30
  3471. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:rare patients with homozygous null mutations have most severe disease
    n1=en:one patient reported (last curated november 2012) | n2=en:rare patients with homozygous null mutations have most severe disease | rel=r_associated | relid=0 | w=30
  3472. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:ratio female to male, 19:10 in index family
    n1=en:one patient reported (last curated november 2012) | n2=en:ratio female to male, 19:10 in index family | rel=r_associated | relid=0 | w=30
  3473. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:recurrence is possible
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrence is possible | rel=r_associated | relid=0 | w=30
  3474. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | rel=r_associated | relid=0 | w=30
  3475. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:recurrent bacterial infection
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent bacterial infection | rel=r_associated | relid=0 | w=30
  3476. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:reduced penetrance (89%)
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced penetrance (89%) | rel=r_associated | relid=0 | w=30
  3477. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years
    n1=en:one patient reported (last curated november 2012) | 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=30
  3478. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:relationship of rare neuropsychiatric signs to histidinemia is unclear
    n1=en:one patient reported (last curated november 2012) | n2=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | rel=r_associated | relid=0 | w=30
  3479. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:relatively benign course after acute episodes in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:relatively benign course after acute episodes in childhood | rel=r_associated | relid=0 | w=30
  3480. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:relatively mild phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=30
  3481. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:retinal holes were present in an asymptomatic female carrier
    n1=en:one patient reported (last curated november 2012) | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=30
  3482. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis
    n1=en:one patient reported (last curated november 2012) | 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=30
  3483. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:risk of sudden death in childhood due to cardiac arrest
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of sudden death in childhood due to cardiac arrest | rel=r_associated | relid=0 | w=30
  3484. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability
    n1=en:one patient reported (last curated november 2012) | n2=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | rel=r_associated | relid=0 | w=30
  3485. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:scalp hair quality improves during pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:scalp hair quality improves during pregnancy | rel=r_associated | relid=0 | w=30
  3486. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members
    n1=en:one patient reported (last curated november 2012) | n2=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | rel=r_associated | relid=0 | w=30
  3487. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3488. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see also autosomal recessive form (255700), which is more common and more severe
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal recessive form (255700), which is more common and more severe | rel=r_associated | relid=0 | w=30
  3489. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see also cmtx1 (302800) and cmt3x (302802)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also cmtx1 (302800) and cmt3x (302802) | rel=r_associated | relid=0 | w=30
  3490. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see also dent disease 2 (300555)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also dent disease 2 (300555) | rel=r_associated | relid=0 | w=30
  3491. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes
    n1=en:one patient reported (last curated november 2012) | n2=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | rel=r_associated | relid=0 | w=30
  3492. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see also pseudohypoparathyroidism type ia (php1a, 103580)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | rel=r_associated | relid=0 | w=30
  3493. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | rel=r_associated | relid=0 | w=30
  3494. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:see also x-linked dominant form (300652)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also x-linked dominant form (300652) | rel=r_associated | relid=0 | w=30
  3495. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures and dystonia peak during childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures and dystonia peak during childhood | rel=r_associated | relid=0 | w=30
  3496. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures are provoked by immersion in hot or warm water
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are provoked by immersion in hot or warm water | rel=r_associated | relid=0 | w=30
  3497. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures are refractory to medication
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are refractory to medication | rel=r_associated | relid=0 | w=30
  3498. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures are refractory to treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are refractory to treatment | rel=r_associated | relid=0 | w=30
  3499. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures become nearly continuous
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures become nearly continuous | rel=r_associated | relid=0 | w=30
  3500. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures may be triggered by infection
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may be triggered by infection | rel=r_associated | relid=0 | w=30
  3501. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures may remit later in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may remit later in childhood | rel=r_associated | relid=0 | w=30
  3502. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures recur in 33% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures recur in 33% of patients | rel=r_associated | relid=0 | w=30
  3503. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures remit in later childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures remit in later childhood | rel=r_associated | relid=0 | w=30
  3504. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures resolve by 4 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures resolve by 4 months of age | rel=r_associated | relid=0 | w=30
  3505. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seizures tend to become more focal with age
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures tend to become more focal with age | rel=r_associated | relid=0 | w=30
  3506. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:serum triglycerides decrease with age
    n1=en:one patient reported (last curated november 2012) | n2=en:serum triglycerides decrease with age | rel=r_associated | relid=0 | w=30
  3507. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=30
  3508. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=30
  3509. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=30
  3510. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=30
  3511. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=30
  3512. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:seven patients from 4 families in israel have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:seven patients from 4 families in israel have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=30
  3513. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:sex ratio of 4-4.5 males to 1 female
    n1=en:one patient reported (last curated november 2012) | n2=en:sex ratio of 4-4.5 males to 1 female | rel=r_associated | relid=0 | w=30
  3514. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:sexual infantilism
    n1=en:one patient reported (last curated november 2012) | n2=en:sexual infantilism | rel=r_associated | relid=0 | w=30
  3515. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:shields classification -
    n1=en:one patient reported (last curated november 2012) | n2=en:shields classification - | rel=r_associated | relid=0 | w=30
  3516. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:significant phenotypic variability
    n1=en:one patient reported (last curated november 2012) | n2=en:significant phenotypic variability | rel=r_associated | relid=0 | w=30
  3517. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:six patients have been reported (as of july 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:six patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=30
  3518. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:skeletal abnormalities are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:skeletal abnormalities are variable | rel=r_associated | relid=0 | w=30
  3519. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:skeletal and facial features are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:skeletal and facial features are variable | rel=r_associated | relid=0 | w=30
  3520. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:skin changes have onset in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:skin changes have onset in childhood | rel=r_associated | relid=0 | w=30
  3521. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:skin erythroderma may resolve early, leaving atrophic lesions
    n1=en:one patient reported (last curated november 2012) | n2=en:skin erythroderma may resolve early, leaving atrophic lesions | rel=r_associated | relid=0 | w=30
  3522. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:slow or nonprogressive
    n1=en:one patient reported (last curated november 2012) | n2=en:slow or nonprogressive | rel=r_associated | relid=0 | w=30
  3523. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some features not found in all patients
    n1=en:one patient reported (last curated november 2012) | n2=en:some features not found in all patients | rel=r_associated | relid=0 | w=30
  3524. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes
    n1=en:one patient reported (last curated november 2012) | n2=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | rel=r_associated | relid=0 | w=30
  3525. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients acquire late ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients acquire late ambulation | rel=r_associated | relid=0 | w=30
  3526. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients are asymptomatic and diagnosed incidentally
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients are asymptomatic and diagnosed incidentally | rel=r_associated | relid=0 | w=30
  3527. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients become bedridden
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients become bedridden | rel=r_associated | relid=0 | w=30
  3528. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients become wheelchair-bound in second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients become wheelchair-bound in second decade | rel=r_associated | relid=0 | w=30
  3529. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients can attend special school
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients can attend special school | rel=r_associated | relid=0 | w=30
  3530. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients do not manifest renal disease in the first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not manifest renal disease in the first decade of life | rel=r_associated | relid=0 | w=30
  3531. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients may benefit from coenzyme q10 treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may benefit from coenzyme q10 treatment | rel=r_associated | relid=0 | w=30
  3532. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients may have residual muscle weakness
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have residual muscle weakness | rel=r_associated | relid=0 | w=30
  3533. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients may not have recurrent infections
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may not have recurrent infections | rel=r_associated | relid=0 | w=30
  3534. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients may show deterioration with infections
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may show deterioration with infections | rel=r_associated | relid=0 | w=30
  3535. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | rel=r_associated | relid=0 | w=30
  3536. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes
    n1=en:one patient reported (last curated november 2012) | n2=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | rel=r_associated | relid=0 | w=30
  3537. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain
    n1=en:one patient reported (last curated november 2012) | n2=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | rel=r_associated | relid=0 | w=30
  3538. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:spontaneous resolution of seizures by 12 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous resolution of seizures by 12 months of age | rel=r_associated | relid=0 | w=30
  3539. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:spontaneously resolves by 5 to 6 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneously resolves by 5 to 6 months of age | rel=r_associated | relid=0 | w=30
  3540. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:subtype 3c (231005) comprises cardiovascular calcifications
    n1=en:one patient reported (last curated november 2012) | n2=en:subtype 3c (231005) comprises cardiovascular calcifications | rel=r_associated | relid=0 | w=30
  3541. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:sudden cardiac death in some families
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden cardiac death in some families | rel=r_associated | relid=0 | w=30
  3542. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:sudden death in affected males occurs in teens
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death in affected males occurs in teens | rel=r_associated | relid=0 | w=30
  3543. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:survival past infancy is rare
    n1=en:one patient reported (last curated november 2012) | n2=en:survival past infancy is rare | rel=r_associated | relid=0 | w=30
  3544. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:symptoms improve following sleep
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms improve following sleep | rel=r_associated | relid=0 | w=30
  3545. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:symptoms often improve gradually with age
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms often improve gradually with age | rel=r_associated | relid=0 | w=30
  3546. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:symptoms worsen with fatigue and exercise
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms worsen with fatigue and exercise | rel=r_associated | relid=0 | w=30
  3547. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:telangiectasia become evident between the second and eighth year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:telangiectasia become evident between the second and eighth year of life | rel=r_associated | relid=0 | w=30
  3548. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:thiamine supplementation may be beneficial
    n1=en:one patient reported (last curated november 2012) | n2=en:thiamine supplementation may be beneficial | rel=r_associated | relid=0 | w=30
  3549. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:this patient died at age 8 months
    n1=en:one patient reported (last curated november 2012) | n2=en:this patient died at age 8 months | rel=r_associated | relid=0 | w=30
  3550. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:this specific disorder has been described in 1 family (ke)
    n1=en:one patient reported (last curated november 2012) | n2=en:this specific disorder has been described in 1 family (ke) | rel=r_associated | relid=0 | w=30
  3551. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:three families have been reported (last curated april 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (last curated april 2011) | rel=r_associated | relid=0 | w=30
  3552. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:three patients have been described (last curated january 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients have been described (last curated january 2013) | rel=r_associated | relid=0 | w=30
  3553. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:three patients have been reported (as of november 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=30
  3554. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:three sibs born of consanguineous arab parents have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  3555. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:three sibs in one consanguineous iranian family have been described (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3556. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:three unrelated caucasian patients have been reported (as of january 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated caucasian patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=30
  3557. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3558. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:tumor suppressor genes
    n1=en:one patient reported (last curated november 2012) | n2=en:tumor suppressor genes | rel=r_associated | relid=0 | w=30
  3559. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:tumors usually develop between 40 and 60 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:tumors usually develop between 40 and 60 years of age | rel=r_associated | relid=0 | w=30
  3560. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:twenty-five percent of affected babies are stillborn
    n1=en:one patient reported (last curated november 2012) | n2=en:twenty-five percent of affected babies are stillborn | rel=r_associated | relid=0 | w=30
  3561. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:twinning due to superfetation
    n1=en:one patient reported (last curated november 2012) | n2=en:twinning due to superfetation | rel=r_associated | relid=0 | w=30
  3562. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two families have been reported (as of may 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=30
  3563. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two families have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  3564. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two families of french-canadian origin have been reported (last curated december 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families of french-canadian origin have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=30
  3565. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two fetuses have been reported (as of august 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two fetuses have been reported (as of august 2011) | rel=r_associated | relid=0 | w=30
  3566. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two of 3 patients became wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:two of 3 patients became wheelchair-bound | rel=r_associated | relid=0 | w=30
  3567. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two pakistani families reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two pakistani families reported (last curated july 2014) | rel=r_associated | relid=0 | w=30
  3568. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two patients from spain have been reported (as of january 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients from spain have been reported (as of january 2012) | rel=r_associated | relid=0 | w=30
  3569. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> 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:one patient reported (last curated november 2012) | 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=30
  3570. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)
    n1=en:one patient reported (last curated november 2012) | 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=30
  3571. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two types - severe infantile form (type i) and milder form (type ii)
    n1=en:one patient reported (last curated november 2012) | n2=en:two types - severe infantile form (type i) and milder form (type ii) | rel=r_associated | relid=0 | w=30
  3572. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated consanguineous families have been reported (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated consanguineous families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=30
  3573. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated consanguineous families have been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated consanguineous families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=30
  3574. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (as of october 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (as of october 2010) | rel=r_associated | relid=0 | w=30
  3575. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated november 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=30
  3576. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | 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=30
  3577. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated individuals have been reported (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated individuals have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=30
  3578. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated december 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=30
  3579. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated october 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=30
  3580. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients reported (last curated september 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients reported (last curated september 2012) | rel=r_associated | relid=0 | w=30
  3581. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:type 2n shows autosomal recessive inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2n shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=30
  3582. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:type 3 - brandywine isolate opalescent dentin (125500)
    n1=en:one patient reported (last curated november 2012) | n2=en:type 3 - brandywine isolate opalescent dentin (125500) | rel=r_associated | relid=0 | w=30
  3583. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:type 3: craniosynostosis, early demise, sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:type 3: craniosynostosis, early demise, sporadic | rel=r_associated | relid=0 | w=30
  3584. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:type a characterized by progressive myoclonic epilepsy
    n1=en:one patient reported (last curated november 2012) | n2=en:type a characterized by progressive myoclonic epilepsy | rel=r_associated | relid=0 | w=30
  3585. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:type i onset at 8 to 15 months of age after normal development
    n1=en:one patient reported (last curated november 2012) | n2=en:type i onset at 8 to 15 months of age after normal development | rel=r_associated | relid=0 | w=30
  3586. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | rel=r_associated | relid=0 | w=30
  3587. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:uncommon disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:uncommon disorder | rel=r_associated | relid=0 | w=30
  3588. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:upper limb involvement may occur later
    n1=en:one patient reported (last curated november 2012) | n2=en:upper limb involvement may occur later | rel=r_associated | relid=0 | w=30
  3589. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:one patient reported (last curated november 2012) | 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=30
  3590. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:usually poor response to steroid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:usually poor response to steroid treatment | rel=r_associated | relid=0 | w=30
  3591. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | rel=r_associated | relid=0 | w=30
  3592. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset (childhood to age 50)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (childhood to age 50) | rel=r_associated | relid=0 | w=30
  3593. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range 4 to 40 years, mostly in first or second decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | rel=r_associated | relid=0 | w=30
  3594. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range prenatal to mid-adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range prenatal to mid-adulthood) | rel=r_associated | relid=0 | w=30
  3595. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range teens to late adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range teens to late adult) | rel=r_associated | relid=0 | w=30
  3596. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset, early childhood to adult
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, early childhood to adult | rel=r_associated | relid=0 | w=30
  3597. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset, from first decade to fourth or fifth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, from first decade to fourth or fifth decade of life | rel=r_associated | relid=0 | w=30
  3598. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset, ranging from prelingual at birth to fifth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, ranging from prelingual at birth to fifth decade | rel=r_associated | relid=0 | w=30
  3599. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age at onset, usually in first decade, but can occur later
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, usually in first decade, but can occur later | rel=r_associated | relid=0 | w=30
  3600. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable age of onset (childhood to young adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (childhood to young adulthood) | rel=r_associated | relid=0 | w=30
  3601. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable cardiac defects
    n1=en:one patient reported (last curated november 2012) | n2=en:variable cardiac defects | rel=r_associated | relid=0 | w=30
  3602. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable disease course
    n1=en:one patient reported (last curated november 2012) | n2=en:variable disease course | rel=r_associated | relid=0 | w=30
  3603. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable distribution, may be focal, segmental, multifocal, or generalized
    n1=en:one patient reported (last curated november 2012) | n2=en:variable distribution, may be focal, segmental, multifocal, or generalized | rel=r_associated | relid=0 | w=30
  3604. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable phenotype, particularly with regard to cortical malformations
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype, particularly with regard to cortical malformations | rel=r_associated | relid=0 | w=30
  3605. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable severity, intrafamilial
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity, intrafamilial | rel=r_associated | relid=0 | w=30
  3606. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:variable survival (some neonatal lethality)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable survival (some neonatal lethality) | rel=r_associated | relid=0 | w=30
  3607. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:very few patients reported
    n1=en:one patient reported (last curated november 2012) | n2=en:very few patients reported | rel=r_associated | relid=0 | w=30
  3608. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:vhl type 2a - hemangioblastoma and pheochromocytoma
    n1=en:one patient reported (last curated november 2012) | n2=en:vhl type 2a - hemangioblastoma and pheochromocytoma | rel=r_associated | relid=0 | w=30
  3609. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:visual and hearing loss are slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:visual and hearing loss are slowly progressive | rel=r_associated | relid=0 | w=30
  3610. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:waddling gait
    n1=en:one patient reported (last curated november 2012) | n2=en:waddling gait | rel=r_associated | relid=0 | w=30
  3611. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:wheelchair use at 20-30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:wheelchair use at 20-30 years | rel=r_associated | relid=0 | w=30
  3612. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:worsening of hand weakness with cold (in some)
    n1=en:one patient reported (last curated november 2012) | n2=en:worsening of hand weakness with cold (in some) | rel=r_associated | relid=0 | w=30
  3613. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:x-linked inheritance could not be ruled out
    n1=en:one patient reported (last curated november 2012) | n2=en:x-linked inheritance could not be ruled out | rel=r_associated | relid=0 | w=30
  3614. en:one patient reported (last curated november 2012) -- r_associated #0: 30 / 0.698 -> en:z allele most common, only in caucasians
    n1=en:one patient reported (last curated november 2012) | n2=en:z allele most common, only in caucasians | rel=r_associated | relid=0 | w=30
  3615. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:'second wind' phenomenon
    n1=en:one patient reported (last curated november 2012) | n2=en:'second wind' phenomenon | rel=r_associated | relid=0 | w=29
  3616. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:(3) adult nonnephropathic (219750)
    n1=en:one patient reported (last curated november 2012) | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=29
  3617. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:46,xx carriers are unaffected
    n1=en:one patient reported (last curated november 2012) | n2=en:46,xx carriers are unaffected | rel=r_associated | relid=0 | w=29
  3618. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:75% of affected individuals are female
    n1=en:one patient reported (last curated november 2012) | n2=en:75% of affected individuals are female | rel=r_associated | relid=0 | w=29
  3619. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:85-90% with manifestations in first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:85-90% with manifestations in first months of life | rel=r_associated | relid=0 | w=29
  3620. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:a subset of patients have a 'visual variant'
    n1=en:one patient reported (last curated november 2012) | n2=en:a subset of patients have a 'visual variant' | rel=r_associated | relid=0 | w=29
  3621. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:abnormal morphogenesis of first and second branchial arches
    n1=en:one patient reported (last curated november 2012) | n2=en:abnormal morphogenesis of first and second branchial arches | rel=r_associated | relid=0 | w=29
  3622. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:about 10% of patients have a severe early onset in the first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:about 10% of patients have a severe early onset in the first months of life | rel=r_associated | relid=0 | w=29
  3623. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:about 20% of female mutation carriers may show mild muscle weakness
    n1=en:one patient reported (last curated november 2012) | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=29
  3624. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:about half of patients become wheelchair bound after long duration
    n1=en:one patient reported (last curated november 2012) | n2=en:about half of patients become wheelchair bound after long duration | rel=r_associated | relid=0 | w=29
  3625. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:accounts for approximately 5% of the epilepsies
    n1=en:one patient reported (last curated november 2012) | n2=en:accounts for approximately 5% of the epilepsies | rel=r_associated | relid=0 | w=29
  3626. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:adrenal insufficiency usually develops later (first decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=29
  3627. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 15 to 53 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 15 to 53 years) | rel=r_associated | relid=0 | w=29
  3628. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:adult-onset (range early twenties to forties)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult-onset (range early twenties to forties) | rel=r_associated | relid=0 | w=29
  3629. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:adult-onset is referred to as small fiber neuropathy
    n1=en:one patient reported (last curated november 2012) | n2=en:adult-onset is referred to as small fiber neuropathy | rel=r_associated | relid=0 | w=29
  3630. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) | rel=r_associated | relid=0 | w=29
  3631. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | rel=r_associated | relid=0 | w=29
  3632. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:affected individuals are highly prone to burn-related injuries
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals are highly prone to burn-related injuries | rel=r_associated | relid=0 | w=29
  3633. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:affected individuals may have biallelic or heterozygous mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals may have biallelic or heterozygous mutations | rel=r_associated | relid=0 | w=29
  3634. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:affected individuals remain ambulatory in old age
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals remain ambulatory in old age | rel=r_associated | relid=0 | w=29
  3635. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:affected males are all result of new mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males are all result of new mutation | rel=r_associated | relid=0 | w=29
  3636. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:affects 1 to 3% of the population
    n1=en:one patient reported (last curated november 2012) | n2=en:affects 1 to 3% of the population | rel=r_associated | relid=0 | w=29
  3637. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age at onset 15 to 25 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset 15 to 25 years | rel=r_associated | relid=0 | w=29
  3638. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age at onset from 3 to 51 years (mean 19.2 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=29
  3639. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age at onset ranges from 16 years to 65 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset ranges from 16 years to 65 years | rel=r_associated | relid=0 | w=29
  3640. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age of onset from 10 to 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset from 10 to 40 years | rel=r_associated | relid=0 | w=29
  3641. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age of onset from third to sixth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset from third to sixth decade of life | rel=r_associated | relid=0 | w=29
  3642. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age of onset varies between 18 years and 53 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset varies between 18 years and 53 years | rel=r_associated | relid=0 | w=29
  3643. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age of onset varies from 5-32 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset varies from 5-32 years of age | rel=r_associated | relid=0 | w=29
  3644. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:age:time:pt:^patient:qn:reported
    n1=en:one patient reported (last curated november 2012) | n2=en:age:time:pt:^patient:qn:reported | rel=r_associated | relid=0 | w=29
  3645. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:all cases are de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases are de novo | rel=r_associated | relid=0 | w=29
  3646. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)
    n1=en:one patient reported (last curated november 2012) | n2=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | rel=r_associated | relid=0 | w=29
  3647. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:all patients have duplication of at least the crebbp gene (600140)
    n1=en:one patient reported (last curated november 2012) | n2=en:all patients have duplication of at least the crebbp gene (600140) | rel=r_associated | relid=0 | w=29
  3648. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | rel=r_associated | relid=0 | w=29
  3649. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to autosomal dominant spg13 (605280)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal dominant spg13 (605280) | rel=r_associated | relid=0 | w=29
  3650. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to child syndrome (308050)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to child syndrome (308050) | rel=r_associated | relid=0 | w=29
  3651. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | rel=r_associated | relid=0 | w=29
  3652. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | rel=r_associated | relid=0 | w=29
  3653. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to nieman-pick disease type b (607616)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to nieman-pick disease type b (607616) | rel=r_associated | relid=0 | w=29
  3654. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to schindler disease (609241)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to schindler disease (609241) | rel=r_associated | relid=0 | w=29
  3655. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to anterior segment mesenchymal dysgenesis (107250)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to anterior segment mesenchymal dysgenesis (107250) | rel=r_associated | relid=0 | w=29
  3656. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to bardet-biedl syndrome 6 (209900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to bardet-biedl syndrome 6 (209900) | rel=r_associated | relid=0 | w=29
  3657. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to birt-hogg-dube syndrome (135150)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to birt-hogg-dube syndrome (135150) | rel=r_associated | relid=0 | w=29
  3658. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to deafness, autosomal recessive 23 (609533)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to deafness, autosomal recessive 23 (609533) | rel=r_associated | relid=0 | w=29
  3659. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | rel=r_associated | relid=0 | w=29
  3660. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to naxos disease (601214)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to naxos disease (601214) | rel=r_associated | relid=0 | w=29
  3661. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to neurofibromatosis-1 (nf1, 162200)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to neurofibromatosis-1 (nf1, 162200) | rel=r_associated | relid=0 | w=29
  3662. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to pendred syndrome, deafness with goiter (274600)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to pendred syndrome, deafness with goiter (274600) | rel=r_associated | relid=0 | w=29
  3663. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> 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:one patient reported (last curated november 2012) | 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=29
  3664. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to several forms of autosomal recessive cmt (see 214400)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to several forms of autosomal recessive cmt (see 214400) | rel=r_associated | relid=0 | w=29
  3665. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=29
  3666. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:allelic to trp1 (190350)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to trp1 (190350) | rel=r_associated | relid=0 | w=29
  3667. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:aortic dissection may occur in second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:aortic dissection may occur in second decade of life | rel=r_associated | relid=0 | w=29
  3668. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3669. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
    n1=en:one patient reported (last curated november 2012) | 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=29
  3670. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | rel=r_associated | relid=0 | w=29
  3671. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:asymptomatic younger patients show characteristic basal ganglia calcifications
    n1=en:one patient reported (last curated november 2012) | n2=en:asymptomatic younger patients show characteristic basal ganglia calcifications | rel=r_associated | relid=0 | w=29
  3672. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:attacks may present during or after sleep
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
  3673. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:attacks often drug-induced
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks often drug-induced | rel=r_associated | relid=0 | w=29
  3674. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:attacks rarely occur before puberty (hcp)
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks rarely occur before puberty (hcp) | rel=r_associated | relid=0 | w=29
  3675. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:attacks triggered by catabolic stress, such as fever or illness
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks triggered by catabolic stress, such as fever or illness | rel=r_associated | relid=0 | w=29
  3676. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:aura may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:aura may occur | rel=r_associated | relid=0 | w=29
  3677. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:autoimmune features are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=29
  3678. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:autosomal dominant with incomplete penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=29
  3679. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:average age at onset between 40 and 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=29
  3680. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:average onset 6 months (range 3-9)
    n1=en:one patient reported (last curated november 2012) | n2=en:average onset 6 months (range 3-9) | rel=r_associated | relid=0 | w=29
  3681. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:axial skeleton most commonly affected
    n1=en:one patient reported (last curated november 2012) | n2=en:axial skeleton most commonly affected | rel=r_associated | relid=0 | w=29
  3682. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on 1 reported family with oca6
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 reported family with oca6 | rel=r_associated | relid=0 | w=29
  3683. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on 1 uruguayan family (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 uruguayan family (last curated april 2014) | rel=r_associated | relid=0 | w=29
  3684. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on 2 siblings in a consanguineous family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 siblings in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=29
  3685. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on a report of 2 affected male cousins (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on a report of 2 affected male cousins (last curated june 2015) | rel=r_associated | relid=0 | w=29
  3686. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on one 4-generation german family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one 4-generation german family (last curated august 2015) | rel=r_associated | relid=0 | w=29
  3687. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on one italian family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one italian family (last curated august 2015) | rel=r_associated | relid=0 | w=29
  3688. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on report of 1 3-generation family (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 3-generation family (last curated november 2014) | rel=r_associated | relid=0 | w=29
  3689. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on report of 4 unrelated patients (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 4 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=29
  3690. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on the report of 1 japanese family (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on the report of 1 japanese family (last curated july 2014) | rel=r_associated | relid=0 | w=29
  3691. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:based on the report of one lebanese family (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on the report of one lebanese family (last curated october 2014) | rel=r_associated | relid=0 | w=29
  3692. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:bone changes tend to develop after first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:bone changes tend to develop after first decade | rel=r_associated | relid=0 | w=29
  3693. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:both autosomal dominant and autosomal recessive inheritance have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:both autosomal dominant and autosomal recessive inheritance have been reported | rel=r_associated | relid=0 | w=29
  3694. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:both reported cases survived beyond infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:both reported cases survived beyond infancy | rel=r_associated | relid=0 | w=29
  3695. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:breech presentation
    n1=en:one patient reported (last curated november 2012) | n2=en:breech presentation | rel=r_associated | relid=0 | w=29
  3696. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | rel=r_associated | relid=0 | w=29
  3697. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:carrier females may present with postpartum hyperammonemia
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females may present with postpartum hyperammonemia | rel=r_associated | relid=0 | w=29
  3698. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:carrier males are fertile
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier males are fertile | rel=r_associated | relid=0 | w=29
  3699. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | rel=r_associated | relid=0 | w=29
  3700. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:caused by a defect in bile acid transport
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by a defect in bile acid transport | rel=r_associated | relid=0 | w=29
  3701. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations
    n1=en:one patient reported (last curated november 2012) | 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=29
  3702. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:chelation therapy can result in clinical improvement
    n1=en:one patient reported (last curated november 2012) | n2=en:chelation therapy can result in clinical improvement | rel=r_associated | relid=0 | w=29
  3703. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:child often can sit unsupported but never ambulates
    n1=en:one patient reported (last curated november 2012) | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=29
  3704. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:childhood or adolescent onset, protracted, with myopathy and neuropathy
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | rel=r_associated | relid=0 | w=29
  3705. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies
    n1=en:one patient reported (last curated november 2012) | n2=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | rel=r_associated | relid=0 | w=29
  3706. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity
    n1=en:one patient reported (last curated november 2012) | n2=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | rel=r_associated | relid=0 | w=29
  3707. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | rel=r_associated | relid=0 | w=29
  3708. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:classical form (type i), less severe with survival into adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:classical form (type i), less severe with survival into adulthood | rel=r_associated | relid=0 | w=29
  3709. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:clinically 'silent' nystagmus evident on eye movement recording in carrier females
    n1=en:one patient reported (last curated november 2012) | n2=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | rel=r_associated | relid=0 | w=29
  3710. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:clonazepam and diazepam may be effective in preventing or lessening severity
    n1=en:one patient reported (last curated november 2012) | n2=en:clonazepam and diazepam may be effective in preventing or lessening severity | rel=r_associated | relid=0 | w=29
  3711. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:common in south african whites
    n1=en:one patient reported (last curated november 2012) | n2=en:common in south african whites | rel=r_associated | relid=0 | w=29
  3712. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle
    n1=en:one patient reported (last curated november 2012) | n2=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | rel=r_associated | relid=0 | w=29
  3713. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:compound heterozygosity common
    n1=en:one patient reported (last curated november 2012) | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=29
  3714. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:condition is experienced by patients as harmless and is often discovered incidentally
    n1=en:one patient reported (last curated november 2012) | n2=en:condition is experienced by patients as harmless and is often discovered incidentally | rel=r_associated | relid=0 | w=29
  3715. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | rel=r_associated | relid=0 | w=29
  3716. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:congenital onset or onset before 2 years (prelingual)
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital onset or onset before 2 years (prelingual) | rel=r_associated | relid=0 | w=29
  3717. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver
    n1=en:one patient reported (last curated november 2012) | n2=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | rel=r_associated | relid=0 | w=29
  3718. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:de novo mutation in some cases
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutation in some cases | rel=r_associated | relid=0 | w=29
  3719. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death between 2 years of age and young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:death between 2 years of age and young adulthood | rel=r_associated | relid=0 | w=29
  3720. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death due to rapidly progressive pulmonary fibrosis in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=29
  3721. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death in early childhood | rel=r_associated | relid=0 | w=29
  3722. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death in first days of life (family b)
    n1=en:one patient reported (last curated november 2012) | n2=en:death in first days of life (family b) | rel=r_associated | relid=0 | w=29
  3723. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death in infancy (patient b)
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy (patient b) | rel=r_associated | relid=0 | w=29
  3724. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death in infancy in 2 patients
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=29
  3725. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death in infancy secondary to kernicterus
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy secondary to kernicterus | rel=r_associated | relid=0 | w=29
  3726. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death in infancy secondary to respiratory insufficiency/pneumonia
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=29
  3727. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death may occur in early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death may occur in early infancy | rel=r_associated | relid=0 | w=29
  3728. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death often before age 2
    n1=en:one patient reported (last curated november 2012) | n2=en:death often before age 2 | rel=r_associated | relid=0 | w=29
  3729. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death often in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death often in early childhood | rel=r_associated | relid=0 | w=29
  3730. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death often in early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death often in early infancy | rel=r_associated | relid=0 | w=29
  3731. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death often in first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death often in first months of life | rel=r_associated | relid=0 | w=29
  3732. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death secondary to respiratory infection or failure before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=29
  3733. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death usually occurs before 5th decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs before 5th decade | rel=r_associated | relid=0 | w=29
  3734. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death usually occurs in first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs in first decade of life | rel=r_associated | relid=0 | w=29
  3735. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:death within first months or years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death within first months or years of life | rel=r_associated | relid=0 | w=29
  3736. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:decrease in frequency and severity of episodes in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:decrease in frequency and severity of episodes in young adulthood | rel=r_associated | relid=0 | w=29
  3737. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:diabetes mellitus diagnosed between third and fifth decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:diabetes mellitus diagnosed between third and fifth decades of life | rel=r_associated | relid=0 | w=29
  3738. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)
    n1=en:one patient reported (last curated november 2012) | 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=29
  3739. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:diagnosis occurs between 23 and 33 weeks' gestation
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis occurs between 23 and 33 weeks' gestation | rel=r_associated | relid=0 | w=29
  3740. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:diagnosis within the first 3 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=29
  3741. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:dip is a pathologic diagnosis that may represent other disease entities
    n1=en:one patient reported (last curated november 2012) | n2=en:dip is a pathologic diagnosis that may represent other disease entities | rel=r_associated | relid=0 | w=29
  3742. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
    n1=en:one patient reported (last curated november 2012) | 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=29
  3743. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:distinct disorder from familial limb-girdle myasthenia (254200)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from familial limb-girdle myasthenia (254200) | rel=r_associated | relid=0 | w=29
  3744. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | rel=r_associated | relid=0 | w=29
  3745. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures
    n1=en:one patient reported (last curated november 2012) | n2=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | rel=r_associated | relid=0 | w=29
  3746. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | rel=r_associated | relid=0 | w=29
  3747. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:dryness and impaired vision in older adults
    n1=en:one patient reported (last curated november 2012) | n2=en:dryness and impaired vision in older adults | rel=r_associated | relid=0 | w=29
  3748. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:dysmorphic features may be subtle
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic features may be subtle | rel=r_associated | relid=0 | w=29
  3749. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:earlier onset is rare
    n1=en:one patient reported (last curated november 2012) | n2=en:earlier onset is rare | rel=r_associated | relid=0 | w=29
  3750. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:early age of onset
    n1=en:one patient reported (last curated november 2012) | n2=en:early age of onset | rel=r_associated | relid=0 | w=29
  3751. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:early death often occurs from cardiac failure or infection
    n1=en:one patient reported (last curated november 2012) | n2=en:early death often occurs from cardiac failure or infection | rel=r_associated | relid=0 | w=29
  3752. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:early exhaustion on exertion
    n1=en:one patient reported (last curated november 2012) | n2=en:early exhaustion on exertion | rel=r_associated | relid=0 | w=29
  3753. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:early onset in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset in some patients | rel=r_associated | relid=0 | w=29
  3754. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:early onset, between 35-60 years
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset, between 35-60 years | rel=r_associated | relid=0 | w=29
  3755. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:empiric risk for a sib of an affected child between 2 and 5%
    n1=en:one patient reported (last curated november 2012) | n2=en:empiric risk for a sib of an affected child between 2 and 5% | rel=r_associated | relid=0 | w=29
  3756. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:episodes are triggered by fatigue, illness, or strenuous exercise
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes are triggered by fatigue, illness, or strenuous exercise | rel=r_associated | relid=0 | w=29
  3757. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:episodes brought on by fasting or infection
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes brought on by fasting or infection | rel=r_associated | relid=0 | w=29
  3758. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=29
  3759. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:estimated frequence 1/3000 to 1/5000
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=29
  3760. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:estimated frequency 1.6 cases/10,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated frequency 1.6 cases/10,000 live births | rel=r_associated | relid=0 | w=29
  3761. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:evidence of systemic iron overload seen in 1 family
    n1=en:one patient reported (last curated november 2012) | n2=en:evidence of systemic iron overload seen in 1 family | rel=r_associated | relid=0 | w=29
  3762. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:exacerbation during febrile episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:exacerbation during febrile episodes | rel=r_associated | relid=0 | w=29
  3763. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:excessive postsurgical blood loss
    n1=en:one patient reported (last curated november 2012) | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=29
  3764. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:exercise intolerance often evident in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:exercise intolerance often evident in childhood | rel=r_associated | relid=0 | w=29
  3765. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:expression more severe in females than males, except for mosaic males
    n1=en:one patient reported (last curated november 2012) | n2=en:expression more severe in females than males, except for mosaic males | rel=r_associated | relid=0 | w=29
  3766. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:facial dysmorphic features may not be present and may become less apparent in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:facial dysmorphic features may not be present and may become less apparent in adulthood | rel=r_associated | relid=0 | w=29
  3767. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:facial palsy often transient in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=29
  3768. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:fatal without bone marrow transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal without bone marrow transplantation | rel=r_associated | relid=0 | w=29
  3769. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:favorable response to antibodies against tnf-alpha (tnfa, 191160)
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | rel=r_associated | relid=0 | w=29
  3770. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:favorable response to ephedrine treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=29
  3771. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:favorable response to treatment with coenzyme q10
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to treatment with coenzyme q10 | rel=r_associated | relid=0 | w=29
  3772. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:favoring of fat and protein
    n1=en:one patient reported (last curated november 2012) | n2=en:favoring of fat and protein | rel=r_associated | relid=0 | w=29
  3773. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:features are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:features are variable | rel=r_associated | relid=0 | w=29
  3774. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build
    n1=en:one patient reported (last curated november 2012) | n2=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | rel=r_associated | relid=0 | w=29
  3775. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:features may be bilateral (15/24) or left side (9/24)
    n1=en:one patient reported (last curated november 2012) | n2=en:features may be bilateral (15/24) or left side (9/24) | rel=r_associated | relid=0 | w=29
  3776. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:female carriers are unaffected or show neuropsychiatric features
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers are unaffected or show neuropsychiatric features | rel=r_associated | relid=0 | w=29
  3777. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:females demonstrate lyonization with corresponding phenotypic variation
    n1=en:one patient reported (last curated november 2012) | n2=en:females demonstrate lyonization with corresponding phenotypic variation | rel=r_associated | relid=0 | w=29
  3778. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:fever of unknown origin
    n1=en:one patient reported (last curated november 2012) | n2=en:fever of unknown origin | rel=r_associated | relid=0 | w=29
  3779. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | rel=r_associated | relid=0 | w=29
  3780. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:five patients from 3 unrelated families have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:five patients from 3 unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29
  3781. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:five unrelated patients have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:five unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
  3782. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:flares triggered by viral infection, overexertion, stress
    n1=en:one patient reported (last curated november 2012) | n2=en:flares triggered by viral infection, overexertion, stress | rel=r_associated | relid=0 | w=29
  3783. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)
    n1=en:one patient reported (last curated november 2012) | n2=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | rel=r_associated | relid=0 | w=29
  3784. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:four families have been reported (last curated october 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:four families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29
  3785. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:four unrelated patients have been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=29
  3786. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:four unrelated patients have been reported (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated patients have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=29
  3787. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:fractures can occur in utero, during labor and delivery, or in newborn period
    n1=en:one patient reported (last curated november 2012) | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=29
  3788. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:fractures often heal without deformity
    n1=en:one patient reported (last curated november 2012) | n2=en:fractures often heal without deformity | rel=r_associated | relid=0 | w=29
  3789. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:frequency and severity of symptoms do not worsen with age
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=29
  3790. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2
    n1=en:one patient reported (last curated november 2012) | n2=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | rel=r_associated | relid=0 | w=29
  3791. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:frequently fatal within the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:frequently fatal within the first year of life | rel=r_associated | relid=0 | w=29
  3792. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic anticipation
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic anticipation | rel=r_associated | relid=0 | w=29
  3793. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic anticipation has been observed
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic anticipation has been observed | rel=r_associated | relid=0 | w=29
  3794. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see 116800 for summary)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=29
  3795. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see 304800)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 304800) | rel=r_associated | relid=0 | w=29
  3796. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see bscl1, 608594)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see bscl1, 608594) | rel=r_associated | relid=0 | w=29
  3797. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cmt2b2, 605589)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmt2b2, 605589) | rel=r_associated | relid=0 | w=29
  3798. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | rel=r_associated | relid=0 | w=29
  3799. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (sli2 606712, sli3 607134)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=29
  3800. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | rel=r_associated | relid=0 | w=29
  3801. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see cild1 (244400)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see cild1 (244400) | rel=r_associated | relid=0 | w=29
  3802. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see ekd1 (128200)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see ekd1 (128200) | rel=r_associated | relid=0 | w=29
  3803. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see evr1 (133780)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see evr1 (133780) | rel=r_associated | relid=0 | w=29
  3804. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:gestational age:time:pt:^fetus:qn:amniocentesis
    n1=en:one patient reported (last curated november 2012) | n2=en:gestational age:time:pt:^fetus:qn:amniocentesis | rel=r_associated | relid=0 | w=29
  3805. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:good response to steroid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=29
  3806. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:gradual spontaneous improvement in the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:gradual spontaneous improvement in the first year of life | rel=r_associated | relid=0 | w=29
  3807. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:great variation in extent of hypertrophy in mutation-positive individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=29
  3808. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:group a patients die in the first years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:group a patients die in the first years of life | rel=r_associated | relid=0 | w=29
  3809. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:group a, found in north american indians, has lactic acidosis and psychomotor retardation
    n1=en:one patient reported (last curated november 2012) | n2=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | rel=r_associated | relid=0 | w=29
  3810. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:group b, found in france and united kingdom, severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:group b, found in france and united kingdom, severe phenotype | rel=r_associated | relid=0 | w=29
  3811. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:hearing loss affects all frequencies
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss affects all frequencies | rel=r_associated | relid=0 | w=29
  3812. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:hearing loss and hoarseness occur later
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss and hoarseness occur later | rel=r_associated | relid=0 | w=29
  3813. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:hearing loss typically begins between 3 and 4 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss typically begins between 3 and 4 years of age | rel=r_associated | relid=0 | w=29
  3814. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:hematuria may become apparent after respiratory infections (synpharyngitic)
    n1=en:one patient reported (last curated november 2012) | n2=en:hematuria may become apparent after respiratory infections (synpharyngitic) | rel=r_associated | relid=0 | w=29
  3815. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | rel=r_associated | relid=0 | w=29
  3816. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | rel=r_associated | relid=0 | w=29
  3817. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:heterozygous females more mildly affected than hemizygous males
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=29
  3818. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:hhs is a more severe variant, often resulting in death in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:hhs is a more severe variant, often resulting in death in childhood | rel=r_associated | relid=0 | w=29
  3819. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:high prevalence in holguin province of cuba
    n1=en:one patient reported (last curated november 2012) | n2=en:high prevalence in holguin province of cuba | rel=r_associated | relid=0 | w=29
  3820. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:high recurrence rate
    n1=en:one patient reported (last curated november 2012) | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=29
  3821. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:highly variable age at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable age at onset | rel=r_associated | relid=0 | w=29
  3822. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:highly variable age at onset (range 9 to 69 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable age at onset (range 9 to 69 years) | rel=r_associated | relid=0 | w=29
  3823. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:highly variable intrafamilial expression
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable intrafamilial expression | rel=r_associated | relid=0 | w=29
  3824. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:highly variable phenotype and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=29
  3825. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:highly variable phenotype with regard to pigmentation
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype with regard to pigmentation | rel=r_associated | relid=0 | w=29
  3826. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3827. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:hyperlipidemia may be partially responsive to fat-restricted diet
    n1=en:one patient reported (last curated november 2012) | n2=en:hyperlipidemia may be partially responsive to fat-restricted diet | rel=r_associated | relid=0 | w=29
  3828. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:hypothyroidism is less severe in individuals with high dietary iodine intake
    n1=en:one patient reported (last curated november 2012) | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=29
  3829. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incidence 1 in 15,000-28,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=29
  3830. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incidence 1 in 6,000 to 1 in 8,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1 in 6,000 to 1 in 8,000 live births | rel=r_associated | relid=0 | w=29
  3831. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 10,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 10,000 live births | rel=r_associated | relid=0 | w=29
  3832. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 276,000 in the netherlands
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 276,000 in the netherlands | rel=r_associated | relid=0 | w=29
  3833. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incidence of mh in anesthetized adults is 1 in 50,000-100,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | rel=r_associated | relid=0 | w=29
  3834. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incomplete age-dependent penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete age-dependent penetrance | rel=r_associated | relid=0 | w=29
  3835. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incomplete penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=29
  3836. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incomplete penetrance (about 80%)
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance (about 80%) | rel=r_associated | relid=0 | w=29
  3837. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:incompletely penetrant phenotype in heterozygotes
    n1=en:one patient reported (last curated november 2012) | n2=en:incompletely penetrant phenotype in heterozygotes | rel=r_associated | relid=0 | w=29
  3838. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:increased frequency among jewish iranian individuals from isfahan
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency among jewish iranian individuals from isfahan | rel=r_associated | relid=0 | w=29
  3839. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:increased frequency in ashkenazi jews (carrier frequency 1 in 14)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | rel=r_associated | relid=0 | w=29
  3840. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:increased frequency in the finnish population
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in the finnish population | rel=r_associated | relid=0 | w=29
  3841. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:increased male-to-female ratio (3-4 to 1)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased male-to-female ratio (3-4 to 1) | rel=r_associated | relid=0 | w=29
  3842. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:increased morbidity/mortality in affected males
    n1=en:one patient reported (last curated november 2012) | n2=en:increased morbidity/mortality in affected males | rel=r_associated | relid=0 | w=29
  3843. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:increased risk of post-splenectomy thrombotic complications
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of post-splenectomy thrombotic complications | rel=r_associated | relid=0 | w=29
  3844. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:increased spontaneous abortions in carrier mothers
    n1=en:one patient reported (last curated november 2012) | n2=en:increased spontaneous abortions in carrier mothers | rel=r_associated | relid=0 | w=29
  3845. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  3846. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:infantile form has onset within first 6 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=29
  3847. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:infantile onset with hepatic involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=29
  3848. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years
    n1=en:one patient reported (last curated november 2012) | 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=29
  3849. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:intermittent pyrexia
    n1=en:one patient reported (last curated november 2012) | n2=en:intermittent pyrexia | rel=r_associated | relid=0 | w=29
  3850. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | rel=r_associated | relid=0 | w=29
  3851. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:intrafamilial variability in degree of hypotrichosis
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variability in degree of hypotrichosis | rel=r_associated | relid=0 | w=29
  3852. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300)
    n1=en:one patient reported (last curated november 2012) | n2=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | rel=r_associated | relid=0 | w=29
  3853. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca
    n1=en:one patient reported (last curated november 2012) | n2=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | rel=r_associated | relid=0 | w=29
  3854. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:late infantile form has onset between 19 months and 4 years
    n1=en:one patient reported (last curated november 2012) | n2=en:late infantile form has onset between 19 months and 4 years | rel=r_associated | relid=0 | w=29
  3855. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:late onset combined immunodeficiency with allelic variant 102700.0020
    n1=en:one patient reported (last curated november 2012) | n2=en:late onset combined immunodeficiency with allelic variant 102700.0020 | rel=r_associated | relid=0 | w=29
  3856. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:later onset with a milder phenotype may also occur
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset with a milder phenotype may also occur | rel=r_associated | relid=0 | w=29
  3857. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:leigh syndrome, x-linked
    n1=en:one patient reported (last curated november 2012) | n2=en:leigh syndrome, x-linked | rel=r_associated | relid=0 | w=29
  3858. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
    n1=en:one patient reported (last curated november 2012) | 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=29
  3859. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:lesions apparent at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=29
  3860. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:lethal in first weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:lethal in first weeks of life | rel=r_associated | relid=0 | w=29
  3861. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
    n1=en:one patient reported (last curated november 2012) | n2=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | rel=r_associated | relid=0 | w=29
  3862. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures
    n1=en:one patient reported (last curated november 2012) | 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=29
  3863. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=29
  3864. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:loss of ambulation within 10 years of onset
    n1=en:one patient reported (last curated november 2012) | n2=en:loss of ambulation within 10 years of onset | rel=r_associated | relid=0 | w=29
  3865. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:lower limbs more severely affected
    n1=en:one patient reported (last curated november 2012) | n2=en:lower limbs more severely affected | rel=r_associated | relid=0 | w=29
  3866. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:majority of children die before age 2
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=29
  3867. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:majority of patients are ambulatory
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=29
  3868. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:male patients have more severe disease than female patients
    n1=en:one patient reported (last curated november 2012) | n2=en:male patients have more severe disease than female patients | rel=r_associated | relid=0 | w=29
  3869. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:male predominance of 3:1 to 5:1
    n1=en:one patient reported (last curated november 2012) | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=29
  3870. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:males died in neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:males died in neonatal period | rel=r_associated | relid=0 | w=29
  3871. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:malnutrition can be severe, requiring total parenteral nutrition
    n1=en:one patient reported (last curated november 2012) | n2=en:malnutrition can be severe, requiring total parenteral nutrition | rel=r_associated | relid=0 | w=29
  3872. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:many features are present only in an untreated patient
    n1=en:one patient reported (last curated november 2012) | n2=en:many features are present only in an untreated patient | rel=r_associated | relid=0 | w=29
  3873. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:many patients require cardiac pacemakers
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients require cardiac pacemakers | rel=r_associated | relid=0 | w=29
  3874. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:maternal uniparental disomy (upd)7 reported in some cases
    n1=en:one patient reported (last curated november 2012) | n2=en:maternal uniparental disomy (upd)7 reported in some cases | rel=r_associated | relid=0 | w=29
  3875. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:may regress in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:may regress in adulthood | rel=r_associated | relid=0 | w=29
  3876. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mean age at onset 12.5 years (range 2 to 15 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 12.5 years (range 2 to 15 years) | rel=r_associated | relid=0 | w=29
  3877. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mean age at onset 41 years (range 18 to 61)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 41 years (range 18 to 61) | rel=r_associated | relid=0 | w=29
  3878. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mean age at onset 46.5 years (range 19-64)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=29
  3879. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mean age at onset for variant cjd is 29 years (before age 45 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset for variant cjd is 29 years (before age 45 years) | rel=r_associated | relid=0 | w=29
  3880. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mean age of onset 22 years (range 5-54)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=29
  3881. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:medial onset of end stage renal disease 13 years
    n1=en:one patient reported (last curated november 2012) | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=29
  3882. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:median age at onset 23 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=29
  3883. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:median survival 5.7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=29
  3884. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:meiotic origin >95% maternal, mostly meiosis i
    n1=en:one patient reported (last curated november 2012) | n2=en:meiotic origin >95% maternal, mostly meiosis i | rel=r_associated | relid=0 | w=29
  3885. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mild asymmetric regional disease (e.g. 180380.0029)
    n1=en:one patient reported (last curated november 2012) | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=29
  3886. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | rel=r_associated | relid=0 | w=29
  3887. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2
    n1=en:one patient reported (last curated november 2012) | n2=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | rel=r_associated | relid=0 | w=29
  3888. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | rel=r_associated | relid=0 | w=29
  3889. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:more common in women
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in women | rel=r_associated | relid=0 | w=29
  3890. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:more prevalent in females
    n1=en:one patient reported (last curated november 2012) | n2=en:more prevalent in females | rel=r_associated | relid=0 | w=29
  3891. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:most cases are caused by mutation in the phox2b gene
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases are caused by mutation in the phox2b gene | rel=r_associated | relid=0 | w=29
  3892. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:most common form of congenital methemoglobinemia
    n1=en:one patient reported (last curated november 2012) | n2=en:most common form of congenital methemoglobinemia | rel=r_associated | relid=0 | w=29
  3893. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:most common mutation is leu276ile (606596.0004)
    n1=en:one patient reported (last curated november 2012) | n2=en:most common mutation is leu276ile (606596.0004) | rel=r_associated | relid=0 | w=29
  3894. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:most patients are female
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are female | rel=r_associated | relid=0 | w=29
  3895. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:most patients do not learn to sit or walk
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients do not learn to sit or walk | rel=r_associated | relid=0 | w=29
  3896. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:most patients lose ambulation 2 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients lose ambulation 2 years after onset | rel=r_associated | relid=0 | w=29
  3897. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:most patients need hip replacement by their mid-thirties
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients need hip replacement by their mid-thirties | rel=r_associated | relid=0 | w=29
  3898. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:motor skills less affected than cognitive skills
    n1=en:one patient reported (last curated november 2012) | n2=en:motor skills less affected than cognitive skills | rel=r_associated | relid=0 | w=29
  3899. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:multisystem decompensation in response to viral infection
    n1=en:one patient reported (last curated november 2012) | n2=en:multisystem decompensation in response to viral infection | rel=r_associated | relid=0 | w=29
  3900. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mutation found in 1 puerto rican family (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation found in 1 puerto rican family (last curated august 2014) | rel=r_associated | relid=0 | w=29
  3901. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | rel=r_associated | relid=0 | w=29
  3902. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli
    n1=en:one patient reported (last curated november 2012) | n2=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | rel=r_associated | relid=0 | w=29
  3903. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:nail changes may be intermittent in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:nail changes may be intermittent in some patients | rel=r_associated | relid=0 | w=29
  3904. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:neonatal lethal due to respiratory insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal lethal due to respiratory insufficiency | rel=r_associated | relid=0 | w=29
  3905. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:neonatal sepsis
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal sepsis | rel=r_associated | relid=0 | w=29
  3906. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:neurologic features occur later in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic features occur later in childhood | rel=r_associated | relid=0 | w=29
  3907. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:neuropsychiatric manifestations are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:neuropsychiatric manifestations are variable | rel=r_associated | relid=0 | w=29
  3908. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:no abnormalities of skin, hair, teeth, or bones
    n1=en:one patient reported (last curated november 2012) | n2=en:no abnormalities of skin, hair, teeth, or bones | rel=r_associated | relid=0 | w=29
  3909. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:no clinical details provided by the authors
    n1=en:one patient reported (last curated november 2012) | n2=en:no clinical details provided by the authors | rel=r_associated | relid=0 | w=29
  3910. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:no family history of
    n1=en:one patient reported (last curated november 2012) | n2=en:no family history of | rel=r_associated | relid=0 | w=29
  3911. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:nonsyndromic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:nonsyndromic disorder | rel=r_associated | relid=0 | w=29
  3912. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:normal alleles contain up to 30 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:normal alleles contain up to 30 repeats | rel=r_associated | relid=0 | w=29
  3913. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:normal in neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:normal in neonatal period | rel=r_associated | relid=0 | w=29
  3914. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:not all nails are affected in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:not all nails are affected in some patients | rel=r_associated | relid=0 | w=29
  3915. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:not all patients have a myopathy
    n1=en:one patient reported (last curated november 2012) | n2=en:not all patients have a myopathy | rel=r_associated | relid=0 | w=29
  3916. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:not all patients have skeletal muscle symptoms or mental retardation
    n1=en:one patient reported (last curated november 2012) | n2=en:not all patients have skeletal muscle symptoms or mental retardation | rel=r_associated | relid=0 | w=29
  3917. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> 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:one patient reported (last curated november 2012) | 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=29
  3918. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:occasional adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:occasional adult onset | rel=r_associated | relid=0 | w=29
  3919. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:occurs in 2-5 per 10,000 individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in 2-5 per 10,000 individuals | rel=r_associated | relid=0 | w=29
  3920. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects
    n1=en:one patient reported (last curated november 2012) | n2=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | rel=r_associated | relid=0 | w=29
  3921. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one consanguineous family has been reported (last curated may 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family has been reported (last curated may 2013) | rel=r_associated | relid=0 | w=29
  3922. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one consanguineous pakistani has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=29
  3923. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one family and 1 unrelated patient have been reported (last curated january 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family and 1 unrelated patient have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=29
  3924. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one family had normal cognitive and neurologic development
    n1=en:one patient reported (last curated november 2012) | n2=en:one family had normal cognitive and neurologic development | rel=r_associated | relid=0 | w=29
  3925. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one family has been reported (as of september 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=29
  3926. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=29
  3927. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one family of puerto rican descent has been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of puerto rican descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=29
  3928. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one family reported (last curated july 2008)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (last curated july 2008) | rel=r_associated | relid=0 | w=29
  3929. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one family reported (last curated june 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (last curated june 2009) | rel=r_associated | relid=0 | w=29
  3930. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one han chinese family and one german family have been described (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one han chinese family and one german family have been described (last curated april 2015) | rel=r_associated | relid=0 | w=29
  3931. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.
    n1=en:one patient reported (last curated november 2012) | n2=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | rel=r_associated | relid=0 | w=29
  3932. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one large consanguineous arab muslim family has been reported (as of september 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large consanguineous arab muslim family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=29
  3933. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one male patient has been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one male patient has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29
  3934. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one pakistani family has been reported (last curated october 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one pakistani family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29
  3935. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one patient died at age 7 years
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient died at age 7 years | rel=r_associated | relid=0 | w=29
  3936. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one patient has been reported (as of august 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of august 2010) | rel=r_associated | relid=0 | w=29
  3937. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one patient with limited clinical information has been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with limited clinical information has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=29
  3938. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one patient with normal cognition has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with normal cognition has been reported | rel=r_associated | relid=0 | w=29
  3939. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:one patient with severe congenital onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with severe congenital onset has been reported | rel=r_associated | relid=0 | w=29
  3940. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset 1-70 years of age (95% by early 50's)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 1-70 years of age (95% by early 50's) | rel=r_associated | relid=0 | w=29
  3941. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset 23 to 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 23 to 30 years | rel=r_associated | relid=0 | w=29
  3942. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset 3 months of age up to 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 3 months of age up to 5 years | rel=r_associated | relid=0 | w=29
  3943. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset after age 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset after age 20 years | rel=r_associated | relid=0 | w=29
  3944. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset around age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset around age 2 years | rel=r_associated | relid=0 | w=29
  3945. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset at 2 to 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 2 to 15 years | rel=r_associated | relid=0 | w=29
  3946. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset at 4 to 9 weeks of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 4 to 9 weeks of age | rel=r_associated | relid=0 | w=29
  3947. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset at birth or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at birth or early childhood | rel=r_associated | relid=0 | w=29
  3948. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset before age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before age 2 years | rel=r_associated | relid=0 | w=29
  3949. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset between 2-5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 2-5 years | rel=r_associated | relid=0 | w=29
  3950. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset between 35-43 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 35-43 years of age | rel=r_associated | relid=0 | w=29
  3951. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset between 9 and 16 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 9 and 16 years | rel=r_associated | relid=0 | w=29
  3952. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset between age 30-50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between age 30-50 years | rel=r_associated | relid=0 | w=29
  3953. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life | rel=r_associated | relid=0 | w=29
  3954. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset early childhood | rel=r_associated | relid=0 | w=29
  3955. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in adolescence | rel=r_associated | relid=0 | w=29
  3956. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in childhood (later than in antenatal bartter syndrome 241200)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (later than in antenatal bartter syndrome 241200) | rel=r_associated | relid=0 | w=29
  3957. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in childhood (range infancy to 14 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range infancy to 14 years) | rel=r_associated | relid=0 | w=29
  3958. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in childhood or adolescence (range 6 to 15 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or adolescence (range 6 to 15 years) | rel=r_associated | relid=0 | w=29
  3959. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in early childhood (age 3)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood (age 3) | rel=r_associated | relid=0 | w=29
  3960. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in fifth or sixth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in fifth or sixth decade | rel=r_associated | relid=0 | w=29
  3961. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in first decade (range 1 to 9 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade (range 1 to 9 years) | rel=r_associated | relid=0 | w=29
  3962. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in first decade after normal early development
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=29
  3963. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in first or second decade (range infancy to teenage years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first or second decade (range infancy to teenage years) | rel=r_associated | relid=0 | w=29
  3964. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in fourth and fifth decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in fourth and fifth decades | rel=r_associated | relid=0 | w=29
  3965. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in infancy of acute hypoglycemic episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy of acute hypoglycemic episodes | rel=r_associated | relid=0 | w=29
  3966. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in infancy up to 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy up to 3 years | rel=r_associated | relid=0 | w=29
  3967. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in infancy, but may not be diagnosed until later in mild cases
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy, but may not be diagnosed until later in mild cases | rel=r_associated | relid=0 | w=29
  3968. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in neonatal period or early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in neonatal period or early infancy | rel=r_associated | relid=0 | w=29
  3969. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second decade | rel=r_associated | relid=0 | w=29
  3970. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in teens to 20's
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in teens to 20's | rel=r_associated | relid=0 | w=29
  3971. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in the 3rd decade of life or later
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the 3rd decade of life or later | rel=r_associated | relid=0 | w=29
  3972. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in the first few months of life patients may need lifelong total parenteral nutrition
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=29
  3973. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in the second or third decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the second or third decade of life | rel=r_associated | relid=0 | w=29
  3974. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in young adulthood | rel=r_associated | relid=0 | w=29
  3975. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin
    n1=en:one patient reported (last curated november 2012) | n2=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | rel=r_associated | relid=0 | w=29
  3976. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of acanthosis nigricans correlates with onset of diabetes
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of acanthosis nigricans correlates with onset of diabetes | rel=r_associated | relid=0 | w=29
  3977. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of disease 7 months to 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease 7 months to 3 years | rel=r_associated | relid=0 | w=29
  3978. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of disease in fourth or fifth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease in fourth or fifth decade of life | rel=r_associated | relid=0 | w=29
  3979. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of edema in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of edema in childhood | rel=r_associated | relid=0 | w=29
  3980. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of febrile seizures typically between 6 months and 6 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of febrile seizures typically between 6 months and 6 years of age | rel=r_associated | relid=0 | w=29
  3981. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | rel=r_associated | relid=0 | w=29
  3982. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of insulin resistance may occur in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of insulin resistance may occur in childhood | rel=r_associated | relid=0 | w=29
  3983. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of lipodystrophy later in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of lipodystrophy later in childhood | rel=r_associated | relid=0 | w=29
  3984. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of lymphedema around puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=29
  3985. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of muscle weakness in fifth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of muscle weakness in fifth decade | rel=r_associated | relid=0 | w=29
  3986. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | rel=r_associated | relid=0 | w=29
  3987. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of neuromuscular symptoms between 6 months and 1 year of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of neuromuscular symptoms between 6 months and 1 year of age | rel=r_associated | relid=0 | w=29
  3988. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of seizures between 9 and 12 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures between 9 and 12 months of age | rel=r_associated | relid=0 | w=29
  3989. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of seizures in first 6 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures in first 6 months of life | rel=r_associated | relid=0 | w=29
  3990. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of symptoms age 5-30
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms age 5-30 | rel=r_associated | relid=0 | w=29
  3991. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of symptoms in early childhood in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=29
  3992. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of symptoms in third to sixth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in third to sixth decade of life | rel=r_associated | relid=0 | w=29
  3993. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of thrombocytopenia in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of thrombocytopenia in early childhood | rel=r_associated | relid=0 | w=29
  3994. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of tremor usually before onset of seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of tremor usually before onset of seizures | rel=r_associated | relid=0 | w=29
  3995. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset of visual loss in childhood (around age 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of visual loss in childhood (around age 5 years) | rel=r_associated | relid=0 | w=29
  3996. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset often in late adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset often in late adolescence | rel=r_associated | relid=0 | w=29
  3997. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset ranges from young adulthood to sixties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from young adulthood to sixties | rel=r_associated | relid=0 | w=29
  3998. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset usually in early adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in early adolescence | rel=r_associated | relid=0 | w=29
  3999. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset usually in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in early childhood | rel=r_associated | relid=0 | w=29
  4000. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:onset usually within first weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually within first weeks of life | rel=r_associated | relid=0 | w=29
  4001. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:opportunistic infections
    n1=en:one patient reported (last curated november 2012) | n2=en:opportunistic infections | rel=r_associated | relid=0 | w=29
  4002. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:ossification evident 2-8 months following swelling
    n1=en:one patient reported (last curated november 2012) | n2=en:ossification evident 2-8 months following swelling | rel=r_associated | relid=0 | w=29
  4003. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> 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:one patient reported (last curated november 2012) | 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=29
  4004. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pain in lower limb
    n1=en:one patient reported (last curated november 2012) | n2=en:pain in lower limb | rel=r_associated | relid=0 | w=29
  4005. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:part of 'dent disease complex' (see 300009)
    n1=en:one patient reported (last curated november 2012) | n2=en:part of 'dent disease complex' (see 300009) | rel=r_associated | relid=0 | w=29
  4006. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pathogenic alleles contain 52 to 86 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:pathogenic alleles contain 52 to 86 repeats | rel=r_associated | relid=0 | w=29
  4007. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pathogenic alleles contain greater than 41 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:pathogenic alleles contain greater than 41 repeats | rel=r_associated | relid=0 | w=29
  4008. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  4009. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients gradually develop tolerance to carbohydrates over time
    n1=en:one patient reported (last curated november 2012) | n2=en:patients gradually develop tolerance to carbohydrates over time | rel=r_associated | relid=0 | w=29
  4010. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients have no abnormalities of hair, teeth, or bone
    n1=en:one patient reported (last curated november 2012) | n2=en:patients have no abnormalities of hair, teeth, or bone | rel=r_associated | relid=0 | w=29
  4011. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients often require cardiac transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:patients often require cardiac transplantation | rel=r_associated | relid=0 | w=29
  4012. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients often require implantation of a pacemaker
    n1=en:one patient reported (last curated november 2012) | n2=en:patients often require implantation of a pacemaker | rel=r_associated | relid=0 | w=29
  4013. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients who acquire ability to walk may lose it
    n1=en:one patient reported (last curated november 2012) | n2=en:patients who acquire ability to walk may lose it | rel=r_associated | relid=0 | w=29
  4014. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | rel=r_associated | relid=0 | w=29
  4015. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=29
  4016. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients with later onset do not have dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with later onset do not have dysmorphic features | rel=r_associated | relid=0 | w=29
  4017. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients with meb may acquire ability to walk and a few words
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with meb may acquire ability to walk and a few words | rel=r_associated | relid=0 | w=29
  4018. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients with null mutations have neonatal onset within 72 hours of birth
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with null mutations have neonatal onset within 72 hours of birth | rel=r_associated | relid=0 | w=29
  4019. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients with the autosomal recessive disorder have a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with the autosomal recessive disorder have a more severe phenotype | rel=r_associated | relid=0 | w=29
  4020. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | rel=r_associated | relid=0 | w=29
  4021. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2
    n1=en:one patient reported (last curated november 2012) | n2=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | rel=r_associated | relid=0 | w=29
  4022. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pedigrees compatible with autosomal dominant inheritance have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:pedigrees compatible with autosomal dominant inheritance have been reported | rel=r_associated | relid=0 | w=29
  4023. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:penetrance 86% by 50 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:penetrance 86% by 50 years of age | rel=r_associated | relid=0 | w=29
  4024. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | rel=r_associated | relid=0 | w=29
  4025. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:performing laboratory medical director:id:pt:facility:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:performing laboratory medical director:id:pt:facility:nom | rel=r_associated | relid=0 | w=29
  4026. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress
    n1=en:one patient reported (last curated november 2012) | n2=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | rel=r_associated | relid=0 | w=29
  4027. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:phenotype is worsened by cold temperature
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype is worsened by cold temperature | rel=r_associated | relid=0 | w=29
  4028. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene
    n1=en:one patient reported (last curated november 2012) | 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=29
  4029. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with parkinson disease
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with parkinson disease | rel=r_associated | relid=0 | w=29
  4030. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:physical features are apparent at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:physical features are apparent at birth | rel=r_associated | relid=0 | w=29
  4031. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pigment does not develop with age
    n1=en:one patient reported (last curated november 2012) | n2=en:pigment does not develop with age | rel=r_associated | relid=0 | w=29
  4032. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:poor response to g-csf treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:poor response to g-csf treatment | rel=r_associated | relid=0 | w=29
  4033. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:precipitated by fatigue or alcohol
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=29
  4034. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:precipitated by febrile illness and fasting
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitated by febrile illness and fasting | rel=r_associated | relid=0 | w=29
  4035. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:precipitated by sleep deprivation
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitated by sleep deprivation | rel=r_associated | relid=0 | w=29
  4036. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prelingual onset in males
    n1=en:one patient reported (last curated november 2012) | n2=en:prelingual onset in males | rel=r_associated | relid=0 | w=29
  4037. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prenatal diagnosis by ultrasound
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal diagnosis by ultrasound | rel=r_associated | relid=0 | w=29
  4038. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prenatal onset or onset at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal onset or onset at birth | rel=r_associated | relid=0 | w=29
  4039. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prenatal or perinatal death
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal or perinatal death | rel=r_associated | relid=0 | w=29
  4040. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prenatal or perinatal lethality in hemizygous males
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal or perinatal lethality in hemizygous males | rel=r_associated | relid=0 | w=29
  4041. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis
    n1=en:one patient reported (last curated november 2012) | n2=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | rel=r_associated | relid=0 | w=29
  4042. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:presentation after 6 months
    n1=en:one patient reported (last curated november 2012) | n2=en:presentation after 6 months | rel=r_associated | relid=0 | w=29
  4043. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
    n1=en:one patient reported (last curated november 2012) | 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=29
  4044. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:presents as early-onset strokes in 43% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:presents as early-onset strokes in 43% of patients | rel=r_associated | relid=0 | w=29
  4045. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prevalence 1 in 1,250
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence 1 in 1,250 | rel=r_associated | relid=0 | w=29
  4046. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prevalence estimated at 1 in 86,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence estimated at 1 in 86,000 | rel=r_associated | relid=0 | w=29
  4047. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prevalence of 0.6 to 10 per 100,000 individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 0.6 to 10 per 100,000 individuals | rel=r_associated | relid=0 | w=29
  4048. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 2,833 in zimbabwe
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 2,833 in zimbabwe | rel=r_associated | relid=0 | w=29
  4049. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:profound dementia and death usually occurs by age 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:profound dementia and death usually occurs by age 50 years | rel=r_associated | relid=0 | w=29
  4050. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive | rel=r_associated | relid=0 | w=29
  4051. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:progressive cerebellar ataxia
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive cerebellar ataxia | rel=r_associated | relid=0 | w=29
  4052. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:progressive disorder due to secondary myopathy
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disorder due to secondary myopathy | rel=r_associated | relid=0 | w=29
  4053. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:progressive or slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive or slowly progressive | rel=r_associated | relid=0 | w=29
  4054. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:provoked by crying or emotional upset
    n1=en:one patient reported (last curated november 2012) | n2=en:provoked by crying or emotional upset | rel=r_associated | relid=0 | w=29
  4055. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:psychiatric symptoms may be the presenting sign
    n1=en:one patient reported (last curated november 2012) | n2=en:psychiatric symptoms may be the presenting sign | rel=r_associated | relid=0 | w=29
  4056. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pulsatile headache lasts hours to days
    n1=en:one patient reported (last curated november 2012) | n2=en:pulsatile headache lasts hours to days | rel=r_associated | relid=0 | w=29
  4057. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:pyridoxine responsive individuals often have milder manifestations than those not responsive
    n1=en:one patient reported (last curated november 2012) | n2=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | rel=r_associated | relid=0 | w=29
  4058. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:rapid disease progression
    n1=en:one patient reported (last curated november 2012) | n2=en:rapid disease progression | rel=r_associated | relid=0 | w=29
  4059. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:rapidly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive | rel=r_associated | relid=0 | w=29
  4060. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:rapidly progressive to persistent vegetative state or death
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive to persistent vegetative state or death | rel=r_associated | relid=0 | w=29
  4061. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reason for lab test:type:pt:bld.dot:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:reason for lab test:type:pt:bld.dot:nom | rel=r_associated | relid=0 | w=29
  4062. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reduced exercise tolerance
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced exercise tolerance | rel=r_associated | relid=0 | w=29
  4063. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reduced fertility
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced fertility | rel=r_associated | relid=0 | w=29
  4064. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reduced life expectancy, death by 10 years of age in 70% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced life expectancy, death by 10 years of age in 70% of patients | rel=r_associated | relid=0 | w=29
  4065. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:regional, racial, and ethnic clustering has been noted
    n1=en:one patient reported (last curated november 2012) | n2=en:regional, racial, and ethnic clustering has been noted | rel=r_associated | relid=0 | w=29
  4066. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:regression in infancy (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:regression in infancy (in some patients) | rel=r_associated | relid=0 | w=29
  4067. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:relatively mild course
    n1=en:one patient reported (last curated november 2012) | n2=en:relatively mild course | rel=r_associated | relid=0 | w=29
  4068. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)
    n1=en:one patient reported (last curated november 2012) | n2=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | rel=r_associated | relid=0 | w=29
  4069. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reported in 1 family (last curated may 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in 1 family (last curated may 2013) | rel=r_associated | relid=0 | w=29
  4070. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reported in individuals of jewish moroccan ancestry
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in individuals of jewish moroccan ancestry | rel=r_associated | relid=0 | w=29
  4071. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reported patients are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:reported patients are asymptomatic | rel=r_associated | relid=0 | w=29
  4072. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:resembles intrauterine torch infection but without intrauterine infection
    n1=en:one patient reported (last curated november 2012) | n2=en:resembles intrauterine torch infection but without intrauterine infection | rel=r_associated | relid=0 | w=29
  4073. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:responsive to treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:responsive to treatment | rel=r_associated | relid=0 | w=29
  4074. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:reticulate hyperpigmentation onset birth - 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:reticulate hyperpigmentation onset birth - 2 years | rel=r_associated | relid=0 | w=29
  4075. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:retinal hemorrhages usually resolve without sequelae
    n1=en:one patient reported (last curated november 2012) | n2=en:retinal hemorrhages usually resolve without sequelae | rel=r_associated | relid=0 | w=29
  4076. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | rel=r_associated | relid=0 | w=29
  4077. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see 177850 for description of heterozygous phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see 177850 for description of heterozygous phenotype | rel=r_associated | relid=0 | w=29
  4078. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also adult-onset stiff person syndrome (184850)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also adult-onset stiff person syndrome (184850) | rel=r_associated | relid=0 | w=29
  4079. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also autosomal dominant form (128230)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant form (128230) | rel=r_associated | relid=0 | w=29
  4080. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also cmtx1 (302800) and cmtx2 (302801)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also cmtx1 (302800) and cmtx2 (302801) | rel=r_associated | relid=0 | w=29
  4081. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also da2b (601680), which is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:see also da2b (601680), which is an allelic disorder | rel=r_associated | relid=0 | w=29
  4082. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also ecyt2 (263400) and ecyt3 (609820)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also ecyt2 (263400) and ecyt3 (609820) | rel=r_associated | relid=0 | w=29
  4083. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also familial developmental dysphasia (600117)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also familial developmental dysphasia (600117) | rel=r_associated | relid=0 | w=29
  4084. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also mmab (251110)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also mmab (251110) | rel=r_associated | relid=0 | w=29
  4085. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also more severe phenotype peeling skin syndrome (270300)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also more severe phenotype peeling skin syndrome (270300) | rel=r_associated | relid=0 | w=29
  4086. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also pachyonychia congenita, type 3 (pc1, 167200)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pachyonychia congenita, type 3 (pc1, 167200) | rel=r_associated | relid=0 | w=29
  4087. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also severe, early-onset form (300717)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also severe, early-onset form (300717) | rel=r_associated | relid=0 | w=29
  4088. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see also the non-herlitz type of jeb (226650), a less severe disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:see also the non-herlitz type of jeb (226650), a less severe disorder | rel=r_associated | relid=0 | w=29
  4089. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see ebn1 (121200) for an autosomal dominant form
    n1=en:one patient reported (last curated november 2012) | n2=en:see ebn1 (121200) for an autosomal dominant form | rel=r_associated | relid=0 | w=29
  4090. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:see recessive form optb4 (611490)
    n1=en:one patient reported (last curated november 2012) | n2=en:see recessive form optb4 (611490) | rel=r_associated | relid=0 | w=29
  4091. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:seizure severity and frequency tend to improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:seizure severity and frequency tend to improve with age | rel=r_associated | relid=0 | w=29
  4092. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:seizures are fever-sensitive
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are fever-sensitive | rel=r_associated | relid=0 | w=29
  4093. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:seizures are poorly responsive to treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are poorly responsive to treatment | rel=r_associated | relid=0 | w=29
  4094. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:seizures may be refractory
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may be refractory | rel=r_associated | relid=0 | w=29
  4095. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:seizures remit in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures remit in early childhood | rel=r_associated | relid=0 | w=29
  4096. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:seizures remit spontaneously by age 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=29
  4097. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4098. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4099. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4100. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4101. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4102. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4103. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4104. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4105. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=29
  4106. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:severe course
    n1=en:one patient reported (last curated november 2012) | n2=en:severe course | rel=r_associated | relid=0 | w=29
  4107. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:severity of phenotype may vary with x-inactivation patterns and/or mutation type
    n1=en:one patient reported (last curated november 2012) | n2=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | rel=r_associated | relid=0 | w=29
  4108. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:sex ratio - 2.3 males-to-1 female
    n1=en:one patient reported (last curated november 2012) | n2=en:sex ratio - 2.3 males-to-1 female | rel=r_associated | relid=0 | w=29
  4109. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:single lesions in sporadic cases
    n1=en:one patient reported (last curated november 2012) | n2=en:single lesions in sporadic cases | rel=r_associated | relid=0 | w=29
  4110. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:six patients reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:six patients reported (last curated march 2015) | rel=r_associated | relid=0 | w=29
  4111. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions
    n1=en:one patient reported (last curated november 2012) | n2=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | rel=r_associated | relid=0 | w=29
  4112. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:skeletal and endocrine features have not been fully characterized in all of the patients reported
    n1=en:one patient reported (last curated november 2012) | n2=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | rel=r_associated | relid=0 | w=29
  4113. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:skewed x-inactivation in carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:skewed x-inactivation in carriers | rel=r_associated | relid=0 | w=29
  4114. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:slightly increased female:male ratio (1.4:1 to 2:1)
    n1=en:one patient reported (last curated november 2012) | n2=en:slightly increased female:male ratio (1.4:1 to 2:1) | rel=r_associated | relid=0 | w=29
  4115. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients are asymptomatic and detected only by newborn screening
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients are asymptomatic and detected only by newborn screening | rel=r_associated | relid=0 | w=29
  4116. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | rel=r_associated | relid=0 | w=29
  4117. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients do not develop renal failure
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not develop renal failure | rel=r_associated | relid=0 | w=29
  4118. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients do not have dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not have dysmorphic features | rel=r_associated | relid=0 | w=29
  4119. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | rel=r_associated | relid=0 | w=29
  4120. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> 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:one patient reported (last curated november 2012) | 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=29
  4121. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients have juvenile-onset myoclonic epilepsy
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have juvenile-onset myoclonic epilepsy | rel=r_associated | relid=0 | w=29
  4122. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients have subclinical exocrine pancreatic deficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have subclinical exocrine pancreatic deficiency | rel=r_associated | relid=0 | w=29
  4123. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  4124. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients show improvement during summer or with fever
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show improvement during summer or with fever | rel=r_associated | relid=0 | w=29
  4125. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients show no bleeding abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show no bleeding abnormalities | rel=r_associated | relid=0 | w=29
  4126. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=29
  4127. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:spontaneous improvement or resolution of skin creases in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous improvement or resolution of skin creases in childhood | rel=r_associated | relid=0 | w=29
  4128. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:spontaneous resorption (rare)
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous resorption (rare) | rel=r_associated | relid=0 | w=29
  4129. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:sporadic occurrence
    n1=en:one patient reported (last curated november 2012) | n2=en:sporadic occurrence | rel=r_associated | relid=0 | w=29
  4130. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons
    n1=en:one patient reported (last curated november 2012) | n2=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | rel=r_associated | relid=0 | w=29
  4131. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:subset of patients have french-canadian leigh syndrome (220111)
    n1=en:one patient reported (last curated november 2012) | n2=en:subset of patients have french-canadian leigh syndrome (220111) | rel=r_associated | relid=0 | w=29
  4132. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:subtle facial phenotype compared to other types of hpe
    n1=en:one patient reported (last curated november 2012) | n2=en:subtle facial phenotype compared to other types of hpe | rel=r_associated | relid=0 | w=29
  4133. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:subtle personality and behavioral changes are presenting signs
    n1=en:one patient reported (last curated november 2012) | n2=en:subtle personality and behavioral changes are presenting signs | rel=r_associated | relid=0 | w=29
  4134. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease
    n1=en:one patient reported (last curated november 2012) | n2=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | rel=r_associated | relid=0 | w=29
  4135. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:sudden death
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death | rel=r_associated | relid=0 | w=29
  4136. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:sudden death may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death may occur | rel=r_associated | relid=0 | w=29
  4137. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:symptom onset ranges from infancy to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:symptom onset ranges from infancy to adulthood | rel=r_associated | relid=0 | w=29
  4138. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:symptoms are not apparent at rest
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms are not apparent at rest | rel=r_associated | relid=0 | w=29
  4139. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:symptoms are responsive to cobalamin treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms are responsive to cobalamin treatment | rel=r_associated | relid=0 | w=29
  4140. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:symptoms induced by strenuous exercise
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms induced by strenuous exercise | rel=r_associated | relid=0 | w=29
  4141. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:symptoms often decrease or remit with age
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms often decrease or remit with age | rel=r_associated | relid=0 | w=29
  4142. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | rel=r_associated | relid=0 | w=29
  4143. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:symptoms relieved by ovarian suppression
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms relieved by ovarian suppression | rel=r_associated | relid=0 | w=29
  4144. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:teeth may undergo post-eruptive changes
    n1=en:one patient reported (last curated november 2012) | n2=en:teeth may undergo post-eruptive changes | rel=r_associated | relid=0 | w=29
  4145. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | rel=r_associated | relid=0 | w=29
  4146. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three affected sibs have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:three affected sibs have been reported | rel=r_associated | relid=0 | w=29
  4147. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)
    n1=en:one patient reported (last curated november 2012) | n2=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | rel=r_associated | relid=0 | w=29
  4148. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three main clinical forms
    n1=en:one patient reported (last curated november 2012) | n2=en:three main clinical forms | rel=r_associated | relid=0 | w=29
  4149. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three patients have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients have been reported | rel=r_associated | relid=0 | w=29
  4150. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three patients have been reported (as of august 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  4151. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three patients reported, one with a wdpcp mutation (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | rel=r_associated | relid=0 | w=29
  4152. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=29
  4153. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three unrelated families have been reported (as of june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=29
  4154. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three unrelated families have been reported (last curated june 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=29
  4155. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:three unrelated girls have been reported (as of july 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated girls have been reported (as of july 2011) | rel=r_associated | relid=0 | w=29
  4156. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | rel=r_associated | relid=0 | w=29
  4157. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection
    n1=en:one patient reported (last curated november 2012) | n2=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | rel=r_associated | relid=0 | w=29
  4158. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)
    n1=en:one patient reported (last curated november 2012) | n2=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | rel=r_associated | relid=0 | w=29
  4159. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes
    n1=en:one patient reported (last curated november 2012) | 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=29
  4160. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1
    n1=en:one patient reported (last curated november 2012) | n2=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | rel=r_associated | relid=0 | w=29
  4161. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two autosomal dominant families have been reported (as of may 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two autosomal dominant families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=29
  4162. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two consanguineous pakistan families have been described
    n1=en:one patient reported (last curated november 2012) | n2=en:two consanguineous pakistan families have been described | rel=r_associated | relid=0 | w=29
  4163. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation)
    n1=en:one patient reported (last curated november 2012) | 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=29
  4164. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two families described (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families described (last curated november 2013) | rel=r_associated | relid=0 | w=29
  4165. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two families each with two affected children have been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families each with two affected children have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=29
  4166. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two families have been reported (as of curation date april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (as of curation date april 2014) | rel=r_associated | relid=0 | w=29
  4167. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two families reported (last curated february 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families reported (last curated february 2013) | rel=r_associated | relid=0 | w=29
  4168. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=29
  4169. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
    n1=en:one patient reported (last curated november 2012) | 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=29
  4170. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two patients in one ashkenzai jewish family described (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients in one ashkenzai jewish family described (last curated june 2014) | rel=r_associated | relid=0 | w=29
  4171. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two probands have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two probands have been reported | rel=r_associated | relid=0 | w=29
  4172. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=29
  4173. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29
  4174. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two sisters have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sisters have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
  4175. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=29
  4176. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated chinese families have been reported (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated chinese families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=29
  4177. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated consanguineous families have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
  4178. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=29
  4179. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29
  4180. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=29
  4181. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=29
  4182. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29
  4183. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated japanese patients have been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated japanese patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=29
  4184. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported | rel=r_associated | relid=0 | w=29
  4185. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=29
  4186. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29
  4187. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=29
  4188. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=29
  4189. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29
  4190. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:type 1 - associated with osteogenesis imperfecta (125490)
    n1=en:one patient reported (last curated november 2012) | n2=en:type 1 - associated with osteogenesis imperfecta (125490) | rel=r_associated | relid=0 | w=29
  4191. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:type 2 porencephaly is usually symmetrical and results from developmental malformation
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | rel=r_associated | relid=0 | w=29
  4192. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:type 2b is characterized by increased affinity for platelet glycoprotein 1b
    n1=en:one patient reported (last curated november 2012) | n2=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | rel=r_associated | relid=0 | w=29
  4193. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade
    n1=en:one patient reported (last curated november 2012) | 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=29
  4194. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:uniparental disomy
    n1=en:one patient reported (last curated november 2012) | n2=en:uniparental disomy | rel=r_associated | relid=0 | w=29
  4195. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:unusual skill with jigsaw puzzle
    n1=en:one patient reported (last curated november 2012) | n2=en:unusual skill with jigsaw puzzle | rel=r_associated | relid=0 | w=29
  4196. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:upper limb involvement in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:upper limb involvement in first decade | rel=r_associated | relid=0 | w=29
  4197. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:upper urinary tract usually normal
    n1=en:one patient reported (last curated november 2012) | n2=en:upper urinary tract usually normal | rel=r_associated | relid=0 | w=29
  4198. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> 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:one patient reported (last curated november 2012) | 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=29
  4199. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:usually a manifestation of the carney complex (cnc1, 1609890)
    n1=en:one patient reported (last curated november 2012) | n2=en:usually a manifestation of the carney complex (cnc1, 1609890) | rel=r_associated | relid=0 | w=29
  4200. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:usually adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:usually adult onset | rel=r_associated | relid=0 | w=29
  4201. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:usually begins in feet and legs (peroneal distribution)
    n1=en:one patient reported (last curated november 2012) | n2=en:usually begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=29
  4202. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:usually fatal in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:usually fatal in infancy | rel=r_associated | relid=0 | w=29
  4203. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:usually favorable response to treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:usually favorable response to treatment | rel=r_associated | relid=0 | w=29
  4204. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:usually lethal in the neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:usually lethal in the neonatal period | rel=r_associated | relid=0 | w=29
  4205. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:usually sporadic disorder resulting from de novo 22q11.2 deletion
    n1=en:one patient reported (last curated november 2012) | n2=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | rel=r_associated | relid=0 | w=29
  4206. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:variable abnormalities | rel=r_associated | relid=0 | w=29
  4207. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable age at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset | rel=r_associated | relid=0 | w=29
  4208. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable age at onset of arrhythmia (range 12 to 59 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset of arrhythmia (range 12 to 59 years) | rel=r_associated | relid=0 | w=29
  4209. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable age of onset (7-59 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (7-59 years) | rel=r_associated | relid=0 | w=29
  4210. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable age of onset (first to third decades)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (first to third decades) | rel=r_associated | relid=0 | w=29
  4211. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable age of onset (range 13 to 67 years, median 48 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (range 13 to 67 years, median 48 years) | rel=r_associated | relid=0 | w=29
  4212. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable age of onset of renal manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset of renal manifestations | rel=r_associated | relid=0 | w=29
  4213. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable age of onset, ranging from 11 to 50 years
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset, ranging from 11 to 50 years | rel=r_associated | relid=0 | w=29
  4214. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals
    n1=en:one patient reported (last curated november 2012) | 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=29
  4215. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable features and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable features and severity | rel=r_associated | relid=0 | w=29
  4216. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable frequency and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable frequency and severity | rel=r_associated | relid=0 | w=29
  4217. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable ictal semiology
    n1=en:one patient reported (last curated november 2012) | n2=en:variable ictal semiology | rel=r_associated | relid=0 | w=29
  4218. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable locations
    n1=en:one patient reported (last curated november 2012) | n2=en:variable locations | rel=r_associated | relid=0 | w=29
  4219. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:variable manifestations | rel=r_associated | relid=0 | w=29
  4220. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable number of nails involved
    n1=en:one patient reported (last curated november 2012) | n2=en:variable number of nails involved | rel=r_associated | relid=0 | w=29
  4221. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable pattern of body involvement although symptoms may predominate in upper or lower body
    n1=en:one patient reported (last curated november 2012) | n2=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | rel=r_associated | relid=0 | w=29
  4222. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable penetrance and expressivity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable penetrance and expressivity | rel=r_associated | relid=0 | w=29
  4223. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variable phenotype (myotonia may or may not be present)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype (myotonia may or may not be present) | rel=r_associated | relid=0 | w=29
  4224. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:variably severity
    n1=en:one patient reported (last curated november 2012) | n2=en:variably severity | rel=r_associated | relid=0 | w=29
  4225. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:very variable phenotype, with some patients having many features and others only a few
    n1=en:one patient reported (last curated november 2012) | n2=en:very variable phenotype, with some patients having many features and others only a few | rel=r_associated | relid=0 | w=29
  4226. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:wasting of hands often occurs first
    n1=en:one patient reported (last curated november 2012) | n2=en:wasting of hands often occurs first | rel=r_associated | relid=0 | w=29
  4227. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:when present, onset of vestibular dysfunction in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:when present, onset of vestibular dysfunction in childhood | rel=r_associated | relid=0 | w=29
  4228. en:one patient reported (last curated november 2012) -- r_associated #0: 29 / 0.674 -> en:wide range of onset from childhood to adult (10 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:wide range of onset from childhood to adult (10 to 50 years) | rel=r_associated | relid=0 | w=29
  4229. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:13% of cases secondary to familial translocation (often maternally derived)
    n1=en:one patient reported (last curated november 2012) | n2=en:13% of cases secondary to familial translocation (often maternally derived) | rel=r_associated | relid=0 | w=28
  4230. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:15% cases are familial
    n1=en:one patient reported (last curated november 2012) | n2=en:15% cases are familial | rel=r_associated | relid=0 | w=28
  4231. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:3 reported cases, 1 pedigree of affected sibs, neither parent affected
    n1=en:one patient reported (last curated november 2012) | n2=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | rel=r_associated | relid=0 | w=28
  4232. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:70% due to de novo maternal deletion of 15q11.2-q13
    n1=en:one patient reported (last curated november 2012) | n2=en:70% due to de novo maternal deletion of 15q11.2-q13 | rel=r_associated | relid=0 | w=28
  4233. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:87% patients are female
    n1=en:one patient reported (last curated november 2012) | n2=en:87% patients are female | rel=r_associated | relid=0 | w=28
  4234. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:a subset of patients are responsive to vitamin b12 therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:a subset of patients are responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=28
  4235. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:abnormal sensitivity to therapeutic radiation
    n1=en:one patient reported (last curated november 2012) | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=28
  4236. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'
    n1=en:one patient reported (last curated november 2012) | n2=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | rel=r_associated | relid=0 | w=28
  4237. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:acquired sporadic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:acquired sporadic disorder | rel=r_associated | relid=0 | w=28
  4238. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:acute attacks lasting 24-48 hours
    n1=en:one patient reported (last curated november 2012) | n2=en:acute attacks lasting 24-48 hours | rel=r_associated | relid=0 | w=28
  4239. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:acute episodes decrease with age and disappear
    n1=en:one patient reported (last curated november 2012) | n2=en:acute episodes decrease with age and disappear | rel=r_associated | relid=0 | w=28
  4240. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:adolescent or adult onset associated with neuropsychiatric symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:adolescent or adult onset associated with neuropsychiatric symptoms | rel=r_associated | relid=0 | w=28
  4241. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:adult onset (mean 27 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (mean 27 years) | rel=r_associated | relid=0 | w=28
  4242. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:adult onset (range 28 to 55 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 28 to 55 years) | rel=r_associated | relid=0 | w=28
  4243. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:adult onset (thirties to forties)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (thirties to forties) | rel=r_associated | relid=0 | w=28
  4244. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:adult onset form usually presents with psychiatric manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset form usually presents with psychiatric manifestations | rel=r_associated | relid=0 | w=28
  4245. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:adult onset of gait abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset of gait abnormalities | rel=r_associated | relid=0 | w=28
  4246. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:affected individuals have a relatively mild ichthyosis phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=28
  4247. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:affected individuals remain ambulatory
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals remain ambulatory | rel=r_associated | relid=0 | w=28
  4248. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:affected infants appear normal
    n1=en:one patient reported (last curated november 2012) | n2=en:affected infants appear normal | rel=r_associated | relid=0 | w=28
  4249. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:affected males are somatic mosaic for mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males are somatic mosaic for mutations | rel=r_associated | relid=0 | w=28
  4250. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:affected patients have various combinations of the main clinical features
    n1=en:one patient reported (last curated november 2012) | n2=en:affected patients have various combinations of the main clinical features | rel=r_associated | relid=0 | w=28
  4251. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age at onset in females ranges from childhood to the fourth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset in females ranges from childhood to the fourth decade | rel=r_associated | relid=0 | w=28
  4252. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age of onset 1 to 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 1 to 2 years | rel=r_associated | relid=0 | w=28
  4253. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4)
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) | rel=r_associated | relid=0 | w=28
  4254. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age of onset 43-64 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 43-64 years | rel=r_associated | relid=0 | w=28
  4255. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age of onset 5 to 22 years (mean 6.9)
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 5 to 22 years (mean 6.9) | rel=r_associated | relid=0 | w=28
  4256. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age of onset from 18 to 45 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset from 18 to 45 years | rel=r_associated | relid=0 | w=28
  4257. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age of onset varies (7 to 28 years of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset varies (7 to 28 years of age) | rel=r_associated | relid=0 | w=28
  4258. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:age of onset/diagnosis 12-35 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=28
  4259. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:all cases due to de novo mutation (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases due to de novo mutation (last curated february 2014) | rel=r_associated | relid=0 | w=28
  4260. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:all de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:all de novo mutations | rel=r_associated | relid=0 | w=28
  4261. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:all reported patients are female
    n1=en:one patient reported (last curated november 2012) | n2=en:all reported patients are female | rel=r_associated | relid=0 | w=28
  4262. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal dominant form (129490)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal dominant form (129490) | rel=r_associated | relid=0 | w=28
  4263. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | rel=r_associated | relid=0 | w=28
  4264. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to brachydactyly type b (113000)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to brachydactyly type b (113000) | rel=r_associated | relid=0 | w=28
  4265. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | rel=r_associated | relid=0 | w=28
  4266. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to early-onset sarcoidosis (609464)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=28
  4267. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | rel=r_associated | relid=0 | w=28
  4268. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4269. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4270. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to acrocapitofemoral dysplasia (607778)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to acrocapitofemoral dysplasia (607778) | rel=r_associated | relid=0 | w=28
  4271. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)
    n1=en:one patient reported (last curated november 2012) | 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=28
  4272. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to hand osteoarthritis (607850)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=28
  4273. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=28
  4274. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to mucopolysaccharidosis ivb
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to mucopolysaccharidosis ivb | rel=r_associated | relid=0 | w=28
  4275. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:one patient reported (last curated november 2012) | 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=28
  4276. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=28
  4277. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=28
  4278. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to roberts syndrome (268300)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to roberts syndrome (268300) | rel=r_associated | relid=0 | w=28
  4279. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to usher syndrome, type id (601067)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to usher syndrome, type id (601067) | rel=r_associated | relid=0 | w=28
  4280. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | rel=r_associated | relid=0 | w=28
  4281. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:alopecia may spontaneously regress, become chronic, or spread diffusely
    n1=en:one patient reported (last curated november 2012) | n2=en:alopecia may spontaneously regress, become chronic, or spread diffusely | rel=r_associated | relid=0 | w=28
  4282. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:also called 'heterozygous osmed' and 'autosomal dominant osmed'
    n1=en:one patient reported (last curated november 2012) | n2=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | rel=r_associated | relid=0 | w=28
  4283. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:anemia does not respond to alpha-interferon treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia does not respond to alpha-interferon treatment | rel=r_associated | relid=0 | w=28
  4284. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
    n1=en:one patient reported (last curated november 2012) | n2=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | rel=r_associated | relid=0 | w=28
  4285. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4286. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:approximately 60% of brrs patients have pten mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 60% of brrs patients have pten mutations | rel=r_associated | relid=0 | w=28
  4287. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:approximately half of the mutations are de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately half of the mutations are de novo | rel=r_associated | relid=0 | w=28
  4288. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:assisted ambulation or wheelchair-dependent
    n1=en:one patient reported (last curated november 2012) | n2=en:assisted ambulation or wheelchair-dependent | rel=r_associated | relid=0 | w=28
  4289. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:associated with malignant hyperthermia (mhs, 145600)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with malignant hyperthermia (mhs, 145600) | rel=r_associated | relid=0 | w=28
  4290. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:association between hla class ii alleles and presence of autoantibodies
    n1=en:one patient reported (last curated november 2012) | n2=en:association between hla class ii alleles and presence of autoantibodies | rel=r_associated | relid=0 | w=28
  4291. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:autonomic dysfunction usually precedes obvious neurologic deterioration
    n1=en:one patient reported (last curated november 2012) | n2=en:autonomic dysfunction usually precedes obvious neurologic deterioration | rel=r_associated | relid=0 | w=28
  4292. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:autonomic symptoms occur with headaches
    n1=en:one patient reported (last curated november 2012) | n2=en:autonomic symptoms occur with headaches | rel=r_associated | relid=0 | w=28
  4293. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive cases tend to have a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive cases tend to have a more severe phenotype | rel=r_associated | relid=0 | w=28
  4294. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance can occur
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance can occur | rel=r_associated | relid=0 | w=28
  4295. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | rel=r_associated | relid=0 | w=28
  4296. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:average age at diagnosis 17.8 years (range 2-35 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=28
  4297. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:average age of onset 13 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average age of onset 13 years | rel=r_associated | relid=0 | w=28
  4298. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:average age of onset 15 years (range 4 to 40)
    n1=en:one patient reported (last curated november 2012) | n2=en:average age of onset 15 years (range 4 to 40) | rel=r_associated | relid=0 | w=28
  4299. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:based on a report of one dutch family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on a report of one dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=28
  4300. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:based on one finnish family
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one finnish family | rel=r_associated | relid=0 | w=28
  4301. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:based on one report of 3 consanguineous pakistani families (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | rel=r_associated | relid=0 | w=28
  4302. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:based on report of 1 family with 7 affected members
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 family with 7 affected members | rel=r_associated | relid=0 | w=28
  4303. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | 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=28
  4304. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | rel=r_associated | relid=0 | w=28
  4305. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:bleeding episodes occur early in life and may disappear with age
    n1=en:one patient reported (last curated november 2012) | n2=en:bleeding episodes occur early in life and may disappear with age | rel=r_associated | relid=0 | w=28
  4306. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:bone abnormalities improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:bone abnormalities improve with age | rel=r_associated | relid=0 | w=28
  4307. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found
    n1=en:one patient reported (last curated november 2012) | n2=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | rel=r_associated | relid=0 | w=28
  4308. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:both heterozygous and homozygous mutations have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:both heterozygous and homozygous mutations have been reported | rel=r_associated | relid=0 | w=28
  4309. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:breech position
    n1=en:one patient reported (last curated november 2012) | n2=en:breech position | rel=r_associated | relid=0 | w=28
  4310. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:can be effectively treated with n-carbamylglutamate
    n1=en:one patient reported (last curated november 2012) | n2=en:can be effectively treated with n-carbamylglutamate | rel=r_associated | relid=0 | w=28
  4311. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:candidiasis is usually the first symptom
    n1=en:one patient reported (last curated november 2012) | n2=en:candidiasis is usually the first symptom | rel=r_associated | relid=0 | w=28
  4312. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:cardiac examination is usually unremarkable
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=28
  4313. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:cardiac failure at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:cardiac failure at birth | rel=r_associated | relid=0 | w=28
  4314. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | rel=r_associated | relid=0 | w=28
  4315. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=28
  4316. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:carrier females show no phenotypic abnormalities, but may have learning difficulties
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=28
  4317. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:carrier frequency in finland 1/40
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier frequency in finland 1/40 | rel=r_associated | relid=0 | w=28
  4318. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:cataracts are progressive but may vary between eyes of an individual
    n1=en:one patient reported (last curated november 2012) | n2=en:cataracts are progressive but may vary between eyes of an individual | rel=r_associated | relid=0 | w=28
  4319. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:cataracts develop by second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:cataracts develop by second decade of life | rel=r_associated | relid=0 | w=28
  4320. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:caused by inheritance of the mutation on the paternal allele (imprinting)
    n1=en:one patient reported (last curated november 2012) | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=28
  4321. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:characteristic face and body by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:characteristic face and body by age 2 years | rel=r_associated | relid=0 | w=28
  4322. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:characterized by calf weakness at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:characterized by calf weakness at onset | rel=r_associated | relid=0 | w=28
  4323. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:childhood onset (range birth to 12 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood onset (range birth to 12 years) | rel=r_associated | relid=0 | w=28
  4324. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:childhood onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood onset has been reported | rel=r_associated | relid=0 | w=28
  4325. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:cholinesterase inhibitors may be beneficial
    n1=en:one patient reported (last curated november 2012) | n2=en:cholinesterase inhibitors may be beneficial | rel=r_associated | relid=0 | w=28
  4326. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia
    n1=en:one patient reported (last curated november 2012) | n2=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | rel=r_associated | relid=0 | w=28
  4327. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:clinical and biochemical abnormalities disappear with age
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=28
  4328. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)
    n1=en:one patient reported (last curated november 2012) | 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=28
  4329. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4330. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:colorectal cancer develops by fourth decade in untreated patients
    n1=en:one patient reported (last curated november 2012) | n2=en:colorectal cancer develops by fourth decade in untreated patients | rel=r_associated | relid=0 | w=28
  4331. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:common (up to 7% of the population)
    n1=en:one patient reported (last curated november 2012) | n2=en:common (up to 7% of the population) | rel=r_associated | relid=0 | w=28
  4332. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:complementation groups - complementation group a (classic mliii, 252600)
    n1=en:one patient reported (last curated november 2012) | n2=en:complementation groups - complementation group a (classic mliii, 252600) | rel=r_associated | relid=0 | w=28
  4333. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:complete recovery upon treatment of hyperthyroidism
    n1=en:one patient reported (last curated november 2012) | n2=en:complete recovery upon treatment of hyperthyroidism | rel=r_associated | relid=0 | w=28
  4334. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:congenital reduction in visual acuity is nonprogressive
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital reduction in visual acuity is nonprogressive | rel=r_associated | relid=0 | w=28
  4335. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation
    n1=en:one patient reported (last curated november 2012) | n2=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | rel=r_associated | relid=0 | w=28
  4336. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:cutaneous leiomyomas increase in number over time
    n1=en:one patient reported (last curated november 2012) | n2=en:cutaneous leiomyomas increase in number over time | rel=r_associated | relid=0 | w=28
  4337. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:one patient reported (last curated november 2012) | 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=28
  4338. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | rel=r_associated | relid=0 | w=28
  4339. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:death in majority of infants soon after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=28
  4340. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:death in the first years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death in the first years of life | rel=r_associated | relid=0 | w=28
  4341. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:death often in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death often in childhood | rel=r_associated | relid=0 | w=28
  4342. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:death usually by 1 year of age
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually by 1 year of age | rel=r_associated | relid=0 | w=28
  4343. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:death usually occurs by 12 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs by 12 months of life | rel=r_associated | relid=0 | w=28
  4344. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:decreased life expectancy
    n1=en:one patient reported (last curated november 2012) | n2=en:decreased life expectancy | rel=r_associated | relid=0 | w=28
  4345. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)
    n1=en:one patient reported (last curated november 2012) | n2=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | rel=r_associated | relid=0 | w=28
  4346. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:deposits may recur in graft after corneal transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=28
  4347. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:described in individuals of jewish bukharian descent
    n1=en:one patient reported (last curated november 2012) | n2=en:described in individuals of jewish bukharian descent | rel=r_associated | relid=0 | w=28
  4348. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:described predominantly in families from the philippines
    n1=en:one patient reported (last curated november 2012) | n2=en:described predominantly in families from the philippines | rel=r_associated | relid=0 | w=28
  4349. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:diabetes status:prid:pt:^patient:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:diabetes status:prid:pt:^patient:nom | rel=r_associated | relid=0 | w=28
  4350. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:diagnosis rarely made before the fourth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis rarely made before the fourth decade of life | rel=r_associated | relid=0 | w=28
  4351. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:disease shows slow progression
    n1=en:one patient reported (last curated november 2012) | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=28
  4352. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:disorder may progress to involve a larger body area
    n1=en:one patient reported (last curated november 2012) | n2=en:disorder may progress to involve a larger body area | rel=r_associated | relid=0 | w=28
  4353. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:one patient reported (last curated november 2012) | n2=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=28
  4354. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:dysmorphic facial features may not be present
    n1=en:one patient reported (last curated november 2012) | n2=en:dysmorphic facial features may not be present | rel=r_associated | relid=0 | w=28
  4355. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:dystonia occurs later
    n1=en:one patient reported (last curated november 2012) | n2=en:dystonia occurs later | rel=r_associated | relid=0 | w=28
  4356. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:earlier onset associated with faster progression and shorter life span
    n1=en:one patient reported (last curated november 2012) | n2=en:earlier onset associated with faster progression and shorter life span | rel=r_associated | relid=0 | w=28
  4357. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:earlier onset may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:earlier onset may occur | rel=r_associated | relid=0 | w=28
  4358. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:early onset (9-48 years, but reported up to 68 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=28
  4359. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:early onset of symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset of symptoms | rel=r_associated | relid=0 | w=28
  4360. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:electroretinogram reduction as early as 4 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:electroretinogram reduction as early as 4 years of age | rel=r_associated | relid=0 | w=28
  4361. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:elevated afp can be seen in other disorders
    n1=en:one patient reported (last curated november 2012) | n2=en:elevated afp can be seen in other disorders | rel=r_associated | relid=0 | w=28
  4362. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol
    n1=en:one patient reported (last curated november 2012) | n2=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | rel=r_associated | relid=0 | w=28
  4363. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | rel=r_associated | relid=0 | w=28
  4364. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:episodes triggered by fasting, illness, fever
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes triggered by fasting, illness, fever | rel=r_associated | relid=0 | w=28
  4365. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:episodic decompensation is usually triggered by illness
    n1=en:one patient reported (last curated november 2012) | n2=en:episodic decompensation is usually triggered by illness | rel=r_associated | relid=0 | w=28
  4366. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=28
  4367. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:estimated incidence of 1-2 in 10,000
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=28
  4368. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:estimated prevalence of 1 in 16,000
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated prevalence of 1 in 16,000 | rel=r_associated | relid=0 | w=28
  4369. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:exacerbation of symptoms during or after pregnancy
    n1=en:one patient reported (last curated november 2012) | n2=en:exacerbation of symptoms during or after pregnancy | rel=r_associated | relid=0 | w=28
  4370. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:exacerbation or regression during viral infection
    n1=en:one patient reported (last curated november 2012) | n2=en:exacerbation or regression during viral infection | rel=r_associated | relid=0 | w=28
  4371. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:exacerbations during infection
    n1=en:one patient reported (last curated november 2012) | n2=en:exacerbations during infection | rel=r_associated | relid=0 | w=28
  4372. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:f syndrome (102510) has many overlapping features
    n1=en:one patient reported (last curated november 2012) | n2=en:f syndrome (102510) has many overlapping features | rel=r_associated | relid=0 | w=28
  4373. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:families a and b had a more severe phenotype resulting in death in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:families a and b had a more severe phenotype resulting in death in early childhood | rel=r_associated | relid=0 | w=28
  4374. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | rel=r_associated | relid=0 | w=28
  4375. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:favorable response to oral bile acid therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to oral bile acid therapy | rel=r_associated | relid=0 | w=28
  4376. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:favorable response to sodium chloride treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to sodium chloride treatment | rel=r_associated | relid=0 | w=28
  4377. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | rel=r_associated | relid=0 | w=28
  4378. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:female carriers may have subtle manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have subtle manifestations | rel=r_associated | relid=0 | w=28
  4379. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:female carriers may show some manifestations, such as hearing impairment
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may show some manifestations, such as hearing impairment | rel=r_associated | relid=0 | w=28
  4380. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:females are most often affected, but rare male cases have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:females are most often affected, but rare male cases have been reported | rel=r_associated | relid=0 | w=28
  4381. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:figure associated with report or note:-:point in time:^patient:-
    n1=en:one patient reported (last curated november 2012) | n2=en:figure associated with report or note:-:point in time:^patient:- | rel=r_associated | relid=0 | w=28
  4382. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:food related behavioral problems include excessive appetite and obsession with eating
    n1=en:one patient reported (last curated november 2012) | n2=en:food related behavioral problems include excessive appetite and obsession with eating | rel=r_associated | relid=0 | w=28
  4383. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750)
    n1=en:one patient reported (last curated november 2012) | n2=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | rel=r_associated | relid=0 | w=28
  4384. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:four cases have been reported, all female
    n1=en:one patient reported (last curated november 2012) | n2=en:four cases have been reported, all female | rel=r_associated | relid=0 | w=28
  4385. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:four individual patients and 1 saudi family have been reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:four individual patients and 1 saudi family have been reported (as of february 2012) | rel=r_associated | relid=0 | w=28
  4386. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:four patients from 3 families have been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=28
  4387. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:four patients from 3 families have been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=28
  4388. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | 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=28
  4389. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:four sibs from the old order mennonite community has been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=28
  4390. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:four unrelated families have been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=28
  4391. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:frequency of attack, monthly - bimonthly
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency of attack, monthly - bimonthly | rel=r_associated | relid=0 | w=28
  4392. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:frequent falls
    n1=en:one patient reported (last curated november 2012) | n2=en:frequent falls | rel=r_associated | relid=0 | w=28
  4393. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:frequent neonatal sudden death
    n1=en:one patient reported (last curated november 2012) | n2=en:frequent neonatal sudden death | rel=r_associated | relid=0 | w=28
  4394. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1
    n1=en:one patient reported (last curated november 2012) | n2=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | rel=r_associated | relid=0 | w=28
  4395. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:funduscopy before 2 years of age is unremarkable
    n1=en:one patient reported (last curated november 2012) | n2=en:funduscopy before 2 years of age is unremarkable | rel=r_associated | relid=0 | w=28
  4396. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:generally considered to be a benign disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:generally considered to be a benign disorder | rel=r_associated | relid=0 | w=28
  4397. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (ccm2 603284, ccm3 603285)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | rel=r_associated | relid=0 | w=28
  4398. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 157640)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 157640) | rel=r_associated | relid=0 | w=28
  4399. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 159900)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 159900) | rel=r_associated | relid=0 | w=28
  4400. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 161800)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=28
  4401. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 259700)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 259700) | rel=r_associated | relid=0 | w=28
  4402. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 606215)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 606215) | rel=r_associated | relid=0 | w=28
  4403. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | rel=r_associated | relid=0 | w=28
  4404. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see bscl2, 269700)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see bscl2, 269700) | rel=r_associated | relid=0 | w=28
  4405. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see cms1a1, 605809)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cms1a1, 605809) | rel=r_associated | relid=0 | w=28
  4406. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see cmt1b 118200)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmt1b 118200) | rel=r_associated | relid=0 | w=28
  4407. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | rel=r_associated | relid=0 | w=28
  4408. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see hcfp2, 604185)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see hcfp2, 604185) | rel=r_associated | relid=0 | w=28
  4409. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see hhf1 256450)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see hhf1 256450) | rel=r_associated | relid=0 | w=28
  4410. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see rls2, 608831)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see rls2, 608831) | rel=r_associated | relid=0 | w=28
  4411. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see, e.g., atfb1, 608583)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., atfb1, 608583) | rel=r_associated | relid=0 | w=28
  4412. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=28
  4413. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity of axonal cmt (see cmt2a 118210)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | rel=r_associated | relid=0 | w=28
  4414. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see fhm1 141500
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see fhm1 141500 | rel=r_associated | relid=0 | w=28
  4415. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | rel=r_associated | relid=0 | w=28
  4416. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see ppnad2 (610475)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see ppnad2 (610475) | rel=r_associated | relid=0 | w=28
  4417. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see spg5a (270800)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see spg5a (270800) | rel=r_associated | relid=0 | w=28
  4418. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hair tends to straighten by 2nd-3rd decade
    n1=en:one patient reported (last curated november 2012) | n2=en:hair tends to straighten by 2nd-3rd decade | rel=r_associated | relid=0 | w=28
  4419. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hairy elbows become apparent in infancy and regress during adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:hairy elbows become apparent in infancy and regress during adolescence | rel=r_associated | relid=0 | w=28
  4420. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:health insurance plan benefits comment:finding:point in time:^patient:narrative
    n1=en:one patient reported (last curated november 2012) | n2=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | rel=r_associated | relid=0 | w=28
  4421. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hearing loss is progressive and initially affects high-frequencies
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss is progressive and initially affects high-frequencies | rel=r_associated | relid=0 | w=28
  4422. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hearing loss may vary in severity and range between ears
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss may vary in severity and range between ears | rel=r_associated | relid=0 | w=28
  4423. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals
    n1=en:one patient reported (last curated november 2012) | 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=28
  4424. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=28
  4425. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:heterozygotes may exhibit syndromic manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes may exhibit syndromic manifestations | rel=r_associated | relid=0 | w=28
  4426. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:high early mortality rate if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:high early mortality rate if untreated | rel=r_associated | relid=0 | w=28
  4427. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:high frequency in hutterite population
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in hutterite population | rel=r_associated | relid=0 | w=28
  4428. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:high frequency of absence seizures (several per day)
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=28
  4429. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:high incidence of e. coli sepsis in untreated neonates
    n1=en:one patient reported (last curated november 2012) | n2=en:high incidence of e. coli sepsis in untreated neonates | rel=r_associated | relid=0 | w=28
  4430. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly penetrant, but low morbidity
    n1=en:one patient reported (last curated november 2012) | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=28
  4431. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly variable age at onset (range childhood to late adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=28
  4432. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly variable expression
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable expression | rel=r_associated | relid=0 | w=28
  4433. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype and severity, even within families
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype and severity, even within families | rel=r_associated | relid=0 | w=28
  4434. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype in females
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype in females | rel=r_associated | relid=0 | w=28
  4435. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=28
  4436. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype, even within families
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=28
  4437. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype, ranging from asymptomatic to death by age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | rel=r_associated | relid=0 | w=28
  4438. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | rel=r_associated | relid=0 | w=28
  4439. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hip joint replacement often necessary
    n1=en:one patient reported (last curated november 2012) | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=28
  4440. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hypertension is presenting sign
    n1=en:one patient reported (last curated november 2012) | n2=en:hypertension is presenting sign | rel=r_associated | relid=0 | w=28
  4441. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum
    n1=en:one patient reported (last curated november 2012) | n2=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | rel=r_associated | relid=0 | w=28
  4442. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:impaired healing
    n1=en:one patient reported (last curated november 2012) | n2=en:impaired healing | rel=r_associated | relid=0 | w=28
  4443. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence 7-15% in pacific island populations
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 7-15% in pacific island populations | rel=r_associated | relid=0 | w=28
  4444. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence in japan is 1 in 57,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence in japan is 1 in 57,000 | rel=r_associated | relid=0 | w=28
  4445. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 100,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 100,000 | rel=r_associated | relid=0 | w=28
  4446. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 20,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 20,000 live births | rel=r_associated | relid=0 | w=28
  4447. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 320,000 births among non-jewish persons
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 320,000 births among non-jewish persons | rel=r_associated | relid=0 | w=28
  4448. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 57,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=28
  4449. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence of 1/50,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1/50,000 births | rel=r_associated | relid=0 | w=28
  4450. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incidence ranges from 1 in 8,500 to 1 in 12,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | rel=r_associated | relid=0 | w=28
  4451. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incomplete penetrance in females
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance in females | rel=r_associated | relid=0 | w=28
  4452. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:incomplete, but high, penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete, but high, penetrance | rel=r_associated | relid=0 | w=28
  4453. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:increased frequency in finland (incidence 1:60,000 finnish newborns)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | rel=r_associated | relid=0 | w=28
  4454. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:increased paternal age
    n1=en:one patient reported (last curated november 2012) | n2=en:increased paternal age | rel=r_associated | relid=0 | w=28
  4455. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:increased recurrence risk with parental translocation
    n1=en:one patient reported (last curated november 2012) | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=28
  4456. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:increased risk of myeloproliferative disorders in those with somatic mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=28
  4457. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:increased sensitivity to heat
    n1=en:one patient reported (last curated november 2012) | n2=en:increased sensitivity to heat | rel=r_associated | relid=0 | w=28
  4458. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:infants may die from apnea or aspiration
    n1=en:one patient reported (last curated november 2012) | n2=en:infants may die from apnea or aspiration | rel=r_associated | relid=0 | w=28
  4459. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:initial hearing loss is mild progressing to severe or profound by the seventh decade
    n1=en:one patient reported (last curated november 2012) | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=28
  4460. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:initially normal rod responses may become significantly reduced at older age
    n1=en:one patient reported (last curated november 2012) | n2=en:initially normal rod responses may become significantly reduced at older age | rel=r_associated | relid=0 | w=28
  4461. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:intellectual disability is variable
    n1=en:one patient reported (last curated november 2012) | n2=en:intellectual disability is variable | rel=r_associated | relid=0 | w=28
  4462. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:intelligence is normal
    n1=en:one patient reported (last curated november 2012) | n2=en:intelligence is normal | rel=r_associated | relid=0 | w=28
  4463. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:intrafamilial variability
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variability | rel=r_associated | relid=0 | w=28
  4464. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:intrafamilial variability in nail changes
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variability in nail changes | rel=r_associated | relid=0 | w=28
  4465. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:intrafamilial variability in number of missing teeth
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=28
  4466. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | rel=r_associated | relid=0 | w=28
  4467. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:kid syndrome and hid syndrome are identical at the molecular level
    n1=en:one patient reported (last curated november 2012) | n2=en:kid syndrome and hid syndrome are identical at the molecular level | rel=r_associated | relid=0 | w=28
  4468. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lack of treatment results in early death
    n1=en:one patient reported (last curated november 2012) | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=28
  4469. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:late-adult onset (usually after age 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:late-adult onset (usually after age 50 years) | rel=r_associated | relid=0 | w=28
  4470. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:later onset has been reported (third or fourth decades)
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset has been reported (third or fourth decades) | rel=r_associated | relid=0 | w=28
  4471. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:later onset of hearing loss in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset of hearing loss in some patients | rel=r_associated | relid=0 | w=28
  4472. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:leg pain during childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=28
  4473. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lesions are present at birth or become apparent in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions are present at birth or become apparent in infancy | rel=r_associated | relid=0 | w=28
  4474. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lesions grow and spread with age
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions grow and spread with age | rel=r_associated | relid=0 | w=28
  4475. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lesions increase in size and number with age
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions increase in size and number with age | rel=r_associated | relid=0 | w=28
  4476. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lesions provoked by friction, sun exposure, heat, and injury
    n1=en:one patient reported (last curated november 2012) | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=28
  4477. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:less than 20% have onset at 18 years of age or less (dominant and recessive)
    n1=en:one patient reported (last curated november 2012) | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=28
  4478. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lethal in 40% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:lethal in 40% of patients | rel=r_associated | relid=0 | w=28
  4479. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lethal in utero or perinatal lethal
    n1=en:one patient reported (last curated november 2012) | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=28
  4480. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:levodopa-induced dyskinesias
    n1=en:one patient reported (last curated november 2012) | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=28
  4481. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lifetime risk of breast cancer in male mutation carriers in 6%
    n1=en:one patient reported (last curated november 2012) | n2=en:lifetime risk of breast cancer in male mutation carriers in 6% | rel=r_associated | relid=0 | w=28
  4482. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=28
  4483. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:live born infants die within few hours of birth
    n1=en:one patient reported (last curated november 2012) | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=28
  4484. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:liver disease may be the most predominant finding
    n1=en:one patient reported (last curated november 2012) | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=28
  4485. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:liver failure episodes associated with fever
    n1=en:one patient reported (last curated november 2012) | n2=en:liver failure episodes associated with fever | rel=r_associated | relid=0 | w=28
  4486. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:liver functions return to normal after 3 to 4 months
    n1=en:one patient reported (last curated november 2012) | n2=en:liver functions return to normal after 3 to 4 months | rel=r_associated | relid=0 | w=28
  4487. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:loss of tumor suppressor gene
    n1=en:one patient reported (last curated november 2012) | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=28
  4488. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:lower limb involvement precedes upper limb involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:lower limb involvement precedes upper limb involvement | rel=r_associated | relid=0 | w=28
  4489. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:majority of cases are male
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=28
  4490. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:majority of patients are stillborn or die before 5 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=28
  4491. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:majority of patients die in neonatal period secondary to respiratory insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=28
  4492. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:majority of patients from italy and southwestern united states
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of patients from italy and southwestern united states | rel=r_associated | relid=0 | w=28
  4493. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:majority of por deficiency patients have an abs-like phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of por deficiency patients have an abs-like phenotype | rel=r_associated | relid=0 | w=28
  4494. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:male to female ratio 21:8
    n1=en:one patient reported (last curated november 2012) | n2=en:male to female ratio 21:8 | rel=r_associated | relid=0 | w=28
  4495. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:males are more severely affected than females
    n1=en:one patient reported (last curated november 2012) | n2=en:males are more severely affected than females | rel=r_associated | relid=0 | w=28
  4496. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:males carry mutations in the somatic mosaic state
    n1=en:one patient reported (last curated november 2012) | n2=en:males carry mutations in the somatic mosaic state | rel=r_associated | relid=0 | w=28
  4497. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:males mores severely affected than females
    n1=en:one patient reported (last curated november 2012) | n2=en:males mores severely affected than females | rel=r_associated | relid=0 | w=28
  4498. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:many patients become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=28
  4499. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:maternal oligohydramnios
    n1=en:one patient reported (last curated november 2012) | n2=en:maternal oligohydramnios | rel=r_associated | relid=0 | w=28
  4500. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)
    n1=en:one patient reported (last curated november 2012) | n2=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | rel=r_associated | relid=0 | w=28
  4501. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4502. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:may be triggered by minor head trauma
    n1=en:one patient reported (last curated november 2012) | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=28
  4503. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mean age at onset 11.4 years (range 4 to 35)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 11.4 years (range 4 to 35) | rel=r_associated | relid=0 | w=28
  4504. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mean age at onset 28 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=28
  4505. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mean age at onset 30.7 years (range 6 to 60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 30.7 years (range 6 to 60 years) | rel=r_associated | relid=0 | w=28
  4506. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mean age of death is 34 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of death is 34 years | rel=r_associated | relid=0 | w=28
  4507. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mean age of onset 20.6 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=28
  4508. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mean age of onset 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 30 years | rel=r_associated | relid=0 | w=28
  4509. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mean age of onset 35-40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=28
  4510. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys
    n1=en:one patient reported (last curated november 2012) | 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=28
  4511. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:median onset of neurologic symptoms is 13 years (range 5 to 28)
    n1=en:one patient reported (last curated november 2012) | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=28
  4512. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:median onset of proteinuria is 18 years (range 10 to 21)
    n1=en:one patient reported (last curated november 2012) | n2=en:median onset of proteinuria is 18 years (range 10 to 21) | rel=r_associated | relid=0 | w=28
  4513. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mesomelia becomes more evident with age
    n1=en:one patient reported (last curated november 2012) | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=28
  4514. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:midline defects
    n1=en:one patient reported (last curated november 2012) | n2=en:midline defects | rel=r_associated | relid=0 | w=28
  4515. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene
    n1=en:one patient reported (last curated november 2012) | 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=28
  4516. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mliii is a heterogeneous disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:mliii is a heterogeneous disorder | rel=r_associated | relid=0 | w=28
  4517. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mode of inheritance is uncertain
    n1=en:one patient reported (last curated november 2012) | n2=en:mode of inheritance is uncertain | rel=r_associated | relid=0 | w=28
  4518. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:more common in females
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in females | rel=r_associated | relid=0 | w=28
  4519. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:more common in females (male:female ratio 4:1)
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in females (male:female ratio 4:1) | rel=r_associated | relid=0 | w=28
  4520. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most affected infants die shortly after birth from respiratory failure
    n1=en:one patient reported (last curated november 2012) | n2=en:most affected infants die shortly after birth from respiratory failure | rel=r_associated | relid=0 | w=28
  4521. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | rel=r_associated | relid=0 | w=28
  4522. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most cases sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases sporadic | rel=r_associated | relid=0 | w=28
  4523. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most children become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:most children become wheelchair-bound | rel=r_associated | relid=0 | w=28
  4524. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most common form of inherited, congenital hydrocephalus
    n1=en:one patient reported (last curated november 2012) | n2=en:most common form of inherited, congenital hydrocephalus | rel=r_associated | relid=0 | w=28
  4525. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most common terminal deletion syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:most common terminal deletion syndrome | rel=r_associated | relid=0 | w=28
  4526. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most patients are clinically asymptomatic and show normal development
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients are clinically asymptomatic and show normal development | rel=r_associated | relid=0 | w=28
  4527. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4528. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most patients need assistance walking or are wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients need assistance walking or are wheelchair-bound | rel=r_associated | relid=0 | w=28
  4529. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most patients require liver transplantation within the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients require liver transplantation within the first year of life | rel=r_associated | relid=0 | w=28
  4530. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:most remit by 6 weeks (1-6 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:most remit by 6 weeks (1-6 months) | rel=r_associated | relid=0 | w=28
  4531. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mother had rubella infection during pregnancy with daughter
    n1=en:one patient reported (last curated november 2012) | n2=en:mother had rubella infection during pregnancy with daughter | rel=r_associated | relid=0 | w=28
  4532. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:muscle involvement shows onset at birth or in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:muscle involvement shows onset at birth or in infancy | rel=r_associated | relid=0 | w=28
  4533. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:muscle weakness occurs only in the presence of hyperthyroidism
    n1=en:one patient reported (last curated november 2012) | n2=en:muscle weakness occurs only in the presence of hyperthyroidism | rel=r_associated | relid=0 | w=28
  4534. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mutations occur de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:mutations occur de novo | rel=r_associated | relid=0 | w=28
  4535. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:mutations show partial penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:mutations show partial penetrance | rel=r_associated | relid=0 | w=28
  4536. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features
    n1=en:one patient reported (last curated november 2012) | n2=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=28
  4537. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:n-myc oncogene (164840) amplification is associated with poor prognosis
    n1=en:one patient reported (last curated november 2012) | n2=en:n-myc oncogene (164840) amplification is associated with poor prognosis | rel=r_associated | relid=0 | w=28
  4538. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)
    n1=en:one patient reported (last curated november 2012) | n2=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | rel=r_associated | relid=0 | w=28
  4539. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:neurologic symptoms are progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic symptoms are progressive | rel=r_associated | relid=0 | w=28
  4540. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | rel=r_associated | relid=0 | w=28
  4541. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene
    n1=en:one patient reported (last curated november 2012) | n2=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | rel=r_associated | relid=0 | w=28
  4542. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:no preceding skin inflammatory stage
    n1=en:one patient reported (last curated november 2012) | n2=en:no preceding skin inflammatory stage | rel=r_associated | relid=0 | w=28
  4543. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:no recurrence of nephrotic syndrome after transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:no recurrence of nephrotic syndrome after transplantation | rel=r_associated | relid=0 | w=28
  4544. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:no skeletal abnormalities in odontohypophosphatasia
    n1=en:one patient reported (last curated november 2012) | n2=en:no skeletal abnormalities in odontohypophosphatasia | rel=r_associated | relid=0 | w=28
  4545. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:normal development until onset of seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:normal development until onset of seizures | rel=r_associated | relid=0 | w=28
  4546. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe
    n1=en:one patient reported (last curated november 2012) | n2=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | rel=r_associated | relid=0 | w=28
  4547. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:normal sialophorin gene
    n1=en:one patient reported (last curated november 2012) | n2=en:normal sialophorin gene | rel=r_associated | relid=0 | w=28
  4548. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:not all patients have facial dysmorphism
    n1=en:one patient reported (last curated november 2012) | n2=en:not all patients have facial dysmorphism | rel=r_associated | relid=0 | w=28
  4549. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:occurs in women and is triggered by pregnancy or estrogen therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in women and is triggered by pregnancy or estrogen therapy | rel=r_associated | relid=0 | w=28
  4550. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:occurs most often among black africans
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs most often among black africans | rel=r_associated | relid=0 | w=28
  4551. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:often diagnosed between ages 3-4 months
    n1=en:one patient reported (last curated november 2012) | n2=en:often diagnosed between ages 3-4 months | rel=r_associated | relid=0 | w=28
  4552. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:often fatal due in infancy due to intractable diarrhea
    n1=en:one patient reported (last curated november 2012) | n2=en:often fatal due in infancy due to intractable diarrhea | rel=r_associated | relid=0 | w=28
  4553. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:often refractory to medical therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:often refractory to medical therapy | rel=r_associated | relid=0 | w=28
  4554. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:often results in death in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:often results in death in childhood | rel=r_associated | relid=0 | w=28
  4555. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:older individuals had moderate to severe hearing loss
    n1=en:one patient reported (last curated november 2012) | n2=en:older individuals had moderate to severe hearing loss | rel=r_associated | relid=0 | w=28
  4556. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one 5-generation chinese family reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 5-generation chinese family reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4557. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=28
  4558. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one consanguineous family has been reported (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=28
  4559. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one consanguineous pakistani family has been reported (last curated june 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been reported (last curated june 2012) | rel=r_associated | relid=0 | w=28
  4560. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one consanguineous pakistani family has been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4561. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | rel=r_associated | relid=0 | w=28
  4562. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one consanguineous turkish family has been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous turkish family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4563. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=28
  4564. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated january 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=28
  4565. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated march 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated march 2014) | rel=r_associated | relid=0 | w=28
  4566. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family of mali origin has been reported (last curated january 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of mali origin has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=28
  4567. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family reported (last curated november 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported (last curated november 2011) | rel=r_associated | relid=0 | w=28
  4568. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family with 2 sisters have been reported (as of march 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with 2 sisters have been reported (as of march 2010) | rel=r_associated | relid=0 | w=28
  4569. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | rel=r_associated | relid=0 | w=28
  4570. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one family with autosomal dominant inheritance had only progressive bone marrow failure
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | rel=r_associated | relid=0 | w=28
  4571. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one korean family has been reported (as of november 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one korean family has been reported (as of november 2011) | rel=r_associated | relid=0 | w=28
  4572. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4573. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
  4574. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one patient reported with col3a1 mutation (120180.0020)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient reported with col3a1 mutation (120180.0020) | rel=r_associated | relid=0 | w=28
  4575. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:one patient with unrelated german parents has been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with unrelated german parents has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  4576. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis
    n1=en:one patient reported (last curated november 2012) | n2=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | rel=r_associated | relid=0 | w=28
  4577. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:only individuals homozygous for risk or non-risk alleles were studied
    n1=en:one patient reported (last curated november 2012) | n2=en:only individuals homozygous for risk or non-risk alleles were studied | rel=r_associated | relid=0 | w=28
  4578. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:only women have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:only women have been reported | rel=r_associated | relid=0 | w=28
  4579. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset - present at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset - present at birth | rel=r_associated | relid=0 | w=28
  4580. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset <30 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset <30 months | rel=r_associated | relid=0 | w=28
  4581. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset 10-20 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 10-20 years of age | rel=r_associated | relid=0 | w=28
  4582. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset 13 to 63 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 13 to 63 years of age | rel=r_associated | relid=0 | w=28
  4583. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset 13-15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 13-15 years | rel=r_associated | relid=0 | w=28
  4584. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset 2-4 years of age in iia
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 2-4 years of age in iia | rel=r_associated | relid=0 | w=28
  4585. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset about 6 months of age after normal growth and development in the first few months of life
    n1=en:one patient reported (last curated november 2012) | 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=28
  4586. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset ages 2 to 14 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ages 2 to 14 years | rel=r_associated | relid=0 | w=28
  4587. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset at age 10 to 14 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at age 10 to 14 years | rel=r_associated | relid=0 | w=28
  4588. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset before age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before age 3 years | rel=r_associated | relid=0 | w=28
  4589. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset between 18 and 65 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 18 and 65 years | rel=r_associated | relid=0 | w=28
  4590. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset between 7 and 27 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 7 and 27 years of age | rel=r_associated | relid=0 | w=28
  4591. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset between ages 2 and 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between ages 2 and 5 years | rel=r_associated | relid=0 | w=28
  4592. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset between the second and sixth decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between the second and sixth decades | rel=r_associated | relid=0 | w=28
  4593. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset beyond the second year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset beyond the second year of life | rel=r_associated | relid=0 | w=28
  4594. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset from birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset from birth | rel=r_associated | relid=0 | w=28
  4595. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in adolescence or adulthood has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in adolescence or adulthood has been reported | rel=r_associated | relid=0 | w=28
  4596. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in adolescence or young adulthood has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in adolescence or young adulthood has been reported | rel=r_associated | relid=0 | w=28
  4597. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in childhood (range birth to 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range birth to 10 years) | rel=r_associated | relid=0 | w=28
  4598. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in early infancy (2 to 3 months of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early infancy (2 to 3 months of age) | rel=r_associated | relid=0 | w=28
  4599. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in early to late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early to late childhood | rel=r_associated | relid=0 | w=28
  4600. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in early twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early twenties | rel=r_associated | relid=0 | w=28
  4601. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in infancy (1-2 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy (1-2 years) | rel=r_associated | relid=0 | w=28
  4602. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in infancy and third decade had been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy and third decade had been reported | rel=r_associated | relid=0 | w=28
  4603. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in infancy or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or early childhood | rel=r_associated | relid=0 | w=28
  4604. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in late adulthood (44 to 73 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late adulthood (44 to 73 years) | rel=r_associated | relid=0 | w=28
  4605. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in second or third decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second or third decades | rel=r_associated | relid=0 | w=28
  4606. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in second to third decades (postlingual)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second to third decades (postlingual) | rel=r_associated | relid=0 | w=28
  4607. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in teens or early twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in teens or early twenties | rel=r_associated | relid=0 | w=28
  4608. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in the fourth to sixth decades (mean 40 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the fourth to sixth decades (mean 40 years) | rel=r_associated | relid=0 | w=28
  4609. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in the second to fourth decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the second to fourth decades of life | rel=r_associated | relid=0 | w=28
  4610. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in third decade | rel=r_associated | relid=0 | w=28
  4611. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in third to fifth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in third to fifth decade of life | rel=r_associated | relid=0 | w=28
  4612. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset in utero, infancy, or early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in utero, infancy, or early childhood | rel=r_associated | relid=0 | w=28
  4613. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of acute encephalopathic attacks in childhood (3 to 7 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | rel=r_associated | relid=0 | w=28
  4614. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of ataxia between 1 and 3 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of ataxia between 1 and 3 years of age | rel=r_associated | relid=0 | w=28
  4615. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of bleeding symptoms in childhood or young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of bleeding symptoms in childhood or young adulthood | rel=r_associated | relid=0 | w=28
  4616. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of choroideremia in second to third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of choroideremia in second to third decade | rel=r_associated | relid=0 | w=28
  4617. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of diabetes at less than 25 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of diabetes at less than 25 years of age | rel=r_associated | relid=0 | w=28
  4618. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of diabetes in teenage years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of diabetes in teenage years | rel=r_associated | relid=0 | w=28
  4619. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of end-stage renal disease 15 to 20 years after onset
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of end-stage renal disease 15 to 20 years after onset | rel=r_associated | relid=0 | w=28
  4620. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of gastrointestinal tumors typically occurs in the second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of gastrointestinal tumors typically occurs in the second decade | rel=r_associated | relid=0 | w=28
  4621. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of joint pain in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of joint pain in childhood | rel=r_associated | relid=0 | w=28
  4622. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of lesions may occur in early childhood or as late as the seventh decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of lesions may occur in early childhood or as late as the seventh decade | rel=r_associated | relid=0 | w=28
  4623. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade | rel=r_associated | relid=0 | w=28
  4624. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of optic neuropathy is usually in early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of optic neuropathy is usually in early adulthood | rel=r_associated | relid=0 | w=28
  4625. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of palmoplantar hyperkeratosis 7-8 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of palmoplantar hyperkeratosis 7-8 years of age | rel=r_associated | relid=0 | w=28
  4626. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of peripheral neuropathy in the first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of peripheral neuropathy in the first decade | rel=r_associated | relid=0 | w=28
  4627. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of seizures at 2-8 days of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures at 2-8 days of life | rel=r_associated | relid=0 | w=28
  4628. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of seizures in first months of life (usually 4 to 7 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of seizures in first months of life (usually 4 to 7 months) | rel=r_associated | relid=0 | w=28
  4629. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset of thrombosis by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of thrombosis by age 2 years | rel=r_associated | relid=0 | w=28
  4630. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset ranges from childhood to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=28
  4631. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset second decade of life | rel=r_associated | relid=0 | w=28
  4632. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood (1 to 9 years of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood (1 to 9 years of age) | rel=r_associated | relid=0 | w=28
  4633. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset usually in late adolescence or early adulthood (range 15 to 45 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | rel=r_associated | relid=0 | w=28
  4634. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:onset usually in the first decade (range 0.8 to 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in the first decade (range 0.8 to 5 years) | rel=r_associated | relid=0 | w=28
  4635. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present
    n1=en:one patient reported (last curated november 2012) | n2=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | rel=r_associated | relid=0 | w=28
  4636. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:other half show head circumference more retarded than height
    n1=en:one patient reported (last curated november 2012) | n2=en:other half show head circumference more retarded than height | rel=r_associated | relid=0 | w=28
  4637. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:other tumors may also occur
    n1=en:one patient reported (last curated november 2012) | n2=en:other tumors may also occur | rel=r_associated | relid=0 | w=28
  4638. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:overlap with obsessive-compulsive disorder (ocd, 164230)
    n1=en:one patient reported (last curated november 2012) | n2=en:overlap with obsessive-compulsive disorder (ocd, 164230) | rel=r_associated | relid=0 | w=28
  4639. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:pain is noted to feel cold
    n1=en:one patient reported (last curated november 2012) | n2=en:pain is noted to feel cold | rel=r_associated | relid=0 | w=28
  4640. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:pain is relieved by antiinflammatory medication
    n1=en:one patient reported (last curated november 2012) | n2=en:pain is relieved by antiinflammatory medication | rel=r_associated | relid=0 | w=28
  4641. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:pancreatic endocrine abnormalities reported in 1 family only
    n1=en:one patient reported (last curated november 2012) | n2=en:pancreatic endocrine abnormalities reported in 1 family only | rel=r_associated | relid=0 | w=28
  4642. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients are often misdiagnosed with spherocytosis
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are often misdiagnosed with spherocytosis | rel=r_associated | relid=0 | w=28
  4643. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients are susceptible to sepsis and dehydration
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are susceptible to sepsis and dehydration | rel=r_associated | relid=0 | w=28
  4644. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients do not exhibit skin pigmentation changes
    n1=en:one patient reported (last curated november 2012) | n2=en:patients do not exhibit skin pigmentation changes | rel=r_associated | relid=0 | w=28
  4645. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients may have either dementia or motor neuron disease or both
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may have either dementia or motor neuron disease or both | rel=r_associated | relid=0 | w=28
  4646. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients often become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:patients often become wheelchair-bound | rel=r_associated | relid=0 | w=28
  4647. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients often have a more severe and complicated phenotype in addition to peo
    n1=en:one patient reported (last curated november 2012) | n2=en:patients often have a more severe and complicated phenotype in addition to peo | rel=r_associated | relid=0 | w=28
  4648. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients often nonambulatory by the mid-twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:patients often nonambulatory by the mid-twenties | rel=r_associated | relid=0 | w=28
  4649. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:patients younger than 30 years complain only that they cannot run fast
    n1=en:one patient reported (last curated november 2012) | n2=en:patients younger than 30 years complain only that they cannot run fast | rel=r_associated | relid=0 | w=28
  4650. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:pavm more frequent in hht1 than hht2
    n1=en:one patient reported (last curated november 2012) | n2=en:pavm more frequent in hht1 than hht2 | rel=r_associated | relid=0 | w=28
  4651. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:performing laboratory phone:tele:pt:facility:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:performing laboratory phone:tele:pt:facility:nom | rel=r_associated | relid=0 | w=28
  4652. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:perinatal lethal
    n1=en:one patient reported (last curated november 2012) | n2=en:perinatal lethal | rel=r_associated | relid=0 | w=28
  4653. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:periodontium is less severely affected than in papillon-lefevre syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:periodontium is less severely affected than in papillon-lefevre syndrome | rel=r_associated | relid=0 | w=28
  4654. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | rel=r_associated | relid=0 | w=28
  4655. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:phenotypic variation (may affect language expression, reception, and/or articulation)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic variation (may affect language expression, reception, and/or articulation) | rel=r_associated | relid=0 | w=28
  4656. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:phenotypic variation in severity and symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic variation in severity and symptoms | rel=r_associated | relid=0 | w=28
  4657. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:phenotypically indistinguishable from hemophilia a (306700)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypically indistinguishable from hemophilia a (306700) | rel=r_associated | relid=0 | w=28
  4658. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:phenotypically mild form of joubert syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypically mild form of joubert syndrome | rel=r_associated | relid=0 | w=28
  4659. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:pigmentary abnormalities apparent at birth or in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:pigmentary abnormalities apparent at birth or in infancy | rel=r_associated | relid=0 | w=28
  4660. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:plantar contractures become apparent with onset of ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:plantar contractures become apparent with onset of ambulation | rel=r_associated | relid=0 | w=28
  4661. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:pneumocytosis carinii infection (12 to 42%)
    n1=en:one patient reported (last curated november 2012) | n2=en:pneumocytosis carinii infection (12 to 42%) | rel=r_associated | relid=0 | w=28
  4662. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:positive family history in 12-33% patients
    n1=en:one patient reported (last curated november 2012) | n2=en:positive family history in 12-33% patients | rel=r_associated | relid=0 | w=28
  4663. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:positive response to treatment with growth hormone
    n1=en:one patient reported (last curated november 2012) | n2=en:positive response to treatment with growth hormone | rel=r_associated | relid=0 | w=28
  4664. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:possible genetic heterogeneity (linkage to xp22 in some families)
    n1=en:one patient reported (last curated november 2012) | n2=en:possible genetic heterogeneity (linkage to xp22 in some families) | rel=r_associated | relid=0 | w=28
  4665. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:preaxial involvement in approximately 60% of patients
    n1=en:one patient reported (last curated november 2012) | n2=en:preaxial involvement in approximately 60% of patients | rel=r_associated | relid=0 | w=28
  4666. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:premature death may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:premature death may occur | rel=r_associated | relid=0 | w=28
  4667. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prenatal diagnosis available
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal diagnosis available | rel=r_associated | relid=0 | w=28
  4668. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prenatal or neonatal onset
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal or neonatal onset | rel=r_associated | relid=0 | w=28
  4669. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:preponderance of affected females (80%) to males
    n1=en:one patient reported (last curated november 2012) | n2=en:preponderance of affected females (80%) to males | rel=r_associated | relid=0 | w=28
  4670. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence estimated at 1 in 50,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence estimated at 1 in 50,000 | rel=r_associated | relid=0 | w=28
  4671. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence in slovenia is 1 in 43,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in slovenia is 1 in 43,000 | rel=r_associated | relid=0 | w=28
  4672. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence of 0.5 to 1 in 1,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 0.5 to 1 in 1,000 | rel=r_associated | relid=0 | w=28
  4673. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 1,429 in tanzania
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 1,429 in tanzania | rel=r_associated | relid=0 | w=28
  4674. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 30,000 in northern europe
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 30,000 in northern europe | rel=r_associated | relid=0 | w=28
  4675. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | rel=r_associated | relid=0 | w=28
  4676. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence of sleep terrors about 3% in children
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of sleep terrors about 3% in children | rel=r_associated | relid=0 | w=28
  4677. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalence ranges from 1 in 12,000 to 1 in 50,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | rel=r_associated | relid=0 | w=28
  4678. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalent among patients of asian descent, particularly japanese
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent among patients of asian descent, particularly japanese | rel=r_associated | relid=0 | w=28
  4679. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalent in north africa
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in north africa | rel=r_associated | relid=0 | w=28
  4680. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | rel=r_associated | relid=0 | w=28
  4681. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache
    n1=en:one patient reported (last curated november 2012) | n2=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | rel=r_associated | relid=0 | w=28
  4682. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:progressive disease with onset in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disease with onset in infancy | rel=r_associated | relid=0 | w=28
  4683. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:progressive neurologic deterioration if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive neurologic deterioration if untreated | rel=r_associated | relid=0 | w=28
  4684. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations
    n1=en:one patient reported (last curated november 2012) | 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=28
  4685. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:psychomotor delay may already be apparent at onset of seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:psychomotor delay may already be apparent at onset of seizures | rel=r_associated | relid=0 | w=28
  4686. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:quinidine therapy may be effective
    n1=en:one patient reported (last curated november 2012) | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=28
  4687. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:rapid progression in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:rapid progression in adolescence | rel=r_associated | relid=0 | w=28
  4688. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:rare disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:rare disorder | rel=r_associated | relid=0 | w=28
  4689. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:rare survival to teens
    n1=en:one patient reported (last curated november 2012) | n2=en:rare survival to teens | rel=r_associated | relid=0 | w=28
  4690. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:recurrent bacterial infections beginning in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent bacterial infections beginning in childhood | rel=r_associated | relid=0 | w=28
  4691. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:reduced penetrance (75%)
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced penetrance (75%) | rel=r_associated | relid=0 | w=28
  4692. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:reduced penetrance (about 60%)
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced penetrance (about 60%) | rel=r_associated | relid=0 | w=28
  4693. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:reduced penetrance (approximately 87%)
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced penetrance (approximately 87%) | rel=r_associated | relid=0 | w=28
  4694. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:reference lab test name:type:time reported elsewhere:reference lab test:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=28
  4695. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:relatives with multiple small congenital pigmented nevi
    n1=en:one patient reported (last curated november 2012) | n2=en:relatives with multiple small congenital pigmented nevi | rel=r_associated | relid=0 | w=28
  4696. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)
    n1=en:one patient reported (last curated november 2012) | n2=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | rel=r_associated | relid=0 | w=28
  4697. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:risk haplotype found in dutch families
    n1=en:one patient reported (last curated november 2012) | n2=en:risk haplotype found in dutch families | rel=r_associated | relid=0 | w=28
  4698. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:risk of sudden death due to cardiac arrhythmias
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of sudden death due to cardiac arrhythmias | rel=r_associated | relid=0 | w=28
  4699. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:risk of sudden death with exertion
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of sudden death with exertion | rel=r_associated | relid=0 | w=28
  4700. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | rel=r_associated | relid=0 | w=28
  4701. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also autosomal dominant giant axonal neuropathy (610100)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant giant axonal neuropathy (610100) | rel=r_associated | relid=0 | w=28
  4702. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also autosomal dominant sick sinus syndrome (163800)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant sick sinus syndrome (163800) | rel=r_associated | relid=0 | w=28
  4703. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also cbld (277410)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also cbld (277410) | rel=r_associated | relid=0 | w=28
  4704. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also dyggve-melchior-clausen disease (223800)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=28
  4705. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also facial hemihypertrophy (133900)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also facial hemihypertrophy (133900) | rel=r_associated | relid=0 | w=28
  4706. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also febrile seizures (feb1, 121210)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also febrile seizures (feb1, 121210) | rel=r_associated | relid=0 | w=28
  4707. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also gaucher disease type iii (231000), which is much less severe
    n1=en:one patient reported (last curated november 2012) | n2=en:see also gaucher disease type iii (231000), which is much less severe | rel=r_associated | relid=0 | w=28
  4708. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | rel=r_associated | relid=0 | w=28
  4709. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4710. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also oca1a (203100)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also oca1a (203100) | rel=r_associated | relid=0 | w=28
  4711. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation
    n1=en:one patient reported (last curated november 2012) | n2=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | rel=r_associated | relid=0 | w=28
  4712. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | rel=r_associated | relid=0 | w=28
  4713. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:segmental distribution often affecting 1 limb
    n1=en:one patient reported (last curated november 2012) | n2=en:segmental distribution often affecting 1 limb | rel=r_associated | relid=0 | w=28
  4714. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:seizures are often refractory
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are often refractory | rel=r_associated | relid=0 | w=28
  4715. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:seizures are sensitive to hyperventilation
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are sensitive to hyperventilation | rel=r_associated | relid=0 | w=28
  4716. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:seizures may occur with illness
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may occur with illness | rel=r_associated | relid=0 | w=28
  4717. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:seizures usually occur in the first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures usually occur in the first months of life | rel=r_associated | relid=0 | w=28
  4718. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:seizures, recurrent, refractory
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures, recurrent, refractory | rel=r_associated | relid=0 | w=28
  4719. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:sensorineural hearing loss may be presenting feature
    n1=en:one patient reported (last curated november 2012) | n2=en:sensorineural hearing loss may be presenting feature | rel=r_associated | relid=0 | w=28
  4720. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=28
  4721. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  4722. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=28
  4723. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=28
  4724. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=28
  4725. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=28
  4726. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=28
  4727. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=28
  4728. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:seventy percent of cases are stillborn
    n1=en:one patient reported (last curated november 2012) | n2=en:seventy percent of cases are stillborn | rel=r_associated | relid=0 | w=28
  4729. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:seventy percent of cases have associated anomalies
    n1=en:one patient reported (last curated november 2012) | n2=en:seventy percent of cases have associated anomalies | rel=r_associated | relid=0 | w=28
  4730. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:severe infantile cases usually die by 6 months
    n1=en:one patient reported (last curated november 2012) | n2=en:severe infantile cases usually die by 6 months | rel=r_associated | relid=0 | w=28
  4731. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:severely affected individuals may carry 2 mutated alleles
    n1=en:one patient reported (last curated november 2012) | n2=en:severely affected individuals may carry 2 mutated alleles | rel=r_associated | relid=0 | w=28
  4732. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:severity of clinical phenotype varies both within and between kindreds
    n1=en:one patient reported (last curated november 2012) | n2=en:severity of clinical phenotype varies both within and between kindreds | rel=r_associated | relid=0 | w=28
  4733. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:short survival (less than 10 years after onset)
    n1=en:one patient reported (last curated november 2012) | n2=en:short survival (less than 10 years after onset) | rel=r_associated | relid=0 | w=28
  4734. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:six patients from 1 saudi arabian family have been reported (last curated december 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | rel=r_associated | relid=0 | w=28
  4735. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:skin appears normal at birth, with development of generalized ichthyosis in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | rel=r_associated | relid=0 | w=28
  4736. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:skin lesions manifest in the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions manifest in the first year of life | rel=r_associated | relid=0 | w=28
  4737. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:skin lesions worsen with heat or sun exposure
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions worsen with heat or sun exposure | rel=r_associated | relid=0 | w=28
  4738. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:slow course of functional deterioration compared to severity of mri findings
    n1=en:one patient reported (last curated november 2012) | n2=en:slow course of functional deterioration compared to severity of mri findings | rel=r_associated | relid=0 | w=28
  4739. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:slow progression without marked disability
    n1=en:one patient reported (last curated november 2012) | n2=en:slow progression without marked disability | rel=r_associated | relid=0 | w=28
  4740. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some carrier females have episodes of significant hyperammonemia in infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | rel=r_associated | relid=0 | w=28
  4741. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some heterozygous carriers exhibit accelerated age-related hearing loss
    n1=en:one patient reported (last curated november 2012) | n2=en:some heterozygous carriers exhibit accelerated age-related hearing loss | rel=r_associated | relid=0 | w=28
  4742. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients are clinically unaffected.
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients are clinically unaffected. | rel=r_associated | relid=0 | w=28
  4743. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients do not develop stroke
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not develop stroke | rel=r_associated | relid=0 | w=28
  4744. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients experience later reversal of hypogonadotropic hypogonadism
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients experience later reversal of hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=28
  4745. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients have a milder nonprogressive phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have a milder nonprogressive phenotype | rel=r_associated | relid=0 | w=28
  4746. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients have asymptomatic hypocalcemia
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have asymptomatic hypocalcemia | rel=r_associated | relid=0 | w=28
  4747. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients have isolated cfeom
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have isolated cfeom | rel=r_associated | relid=0 | w=28
  4748. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients have later onset and more variable phenotype (mngie)
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have later onset and more variable phenotype (mngie) | rel=r_associated | relid=0 | w=28
  4749. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients have no or mild manifestations and normal development
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have no or mild manifestations and normal development | rel=r_associated | relid=0 | w=28
  4750. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | rel=r_associated | relid=0 | w=28
  4751. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients may be asymptomatic and have only short telomeres
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may be asymptomatic and have only short telomeres | rel=r_associated | relid=0 | w=28
  4752. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients may die from cardiomyopathy in the first or second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may die from cardiomyopathy in the first or second decade of life | rel=r_associated | relid=0 | w=28
  4753. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients may have isolated myokymia
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have isolated myokymia | rel=r_associated | relid=0 | w=28
  4754. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients may have normal development until onset of seizures in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have normal development until onset of seizures in infancy | rel=r_associated | relid=0 | w=28
  4755. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients may respond to thiamine treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may respond to thiamine treatment | rel=r_associated | relid=0 | w=28
  4756. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients never achieve sitting
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients never achieve sitting | rel=r_associated | relid=0 | w=28
  4757. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients present with spasticity, whereas others present with cerebellar ataxia
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients present with spasticity, whereas others present with cerebellar ataxia | rel=r_associated | relid=0 | w=28
  4758. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients show normal development until onset of disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show normal development until onset of disorder | rel=r_associated | relid=0 | w=28
  4759. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some patients show onset later in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients show onset later in childhood | rel=r_associated | relid=0 | w=28
  4760. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:some response to l-dopa therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:some response to l-dopa therapy | rel=r_associated | relid=0 | w=28
  4761. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:spasticity occurs before parkinsonism
    n1=en:one patient reported (last curated november 2012) | n2=en:spasticity occurs before parkinsonism | rel=r_associated | relid=0 | w=28
  4762. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:spectrum of laterality defects
    n1=en:one patient reported (last curated november 2012) | n2=en:spectrum of laterality defects | rel=r_associated | relid=0 | w=28
  4763. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:spinal involvement improves with age
    n1=en:one patient reported (last curated november 2012) | n2=en:spinal involvement improves with age | rel=r_associated | relid=0 | w=28
  4764. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:spontaneous resolution usually after 12 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous resolution usually after 12 months of age | rel=r_associated | relid=0 | w=28
  4765. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:spontaneous reversal of gnrh deficiency may occur in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous reversal of gnrh deficiency may occur in some patients | rel=r_associated | relid=0 | w=28
  4766. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:sudden death due to cardiomyopathy
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death due to cardiomyopathy | rel=r_associated | relid=0 | w=28
  4767. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:surgical intervention is not always curative
    n1=en:one patient reported (last curated november 2012) | n2=en:surgical intervention is not always curative | rel=r_associated | relid=0 | w=28
  4768. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:surviving males are postzygotic mosaic for ebp mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=28
  4769. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:susceptibility to infections starts in the first week of life
    n1=en:one patient reported (last curated november 2012) | n2=en:susceptibility to infections starts in the first week of life | rel=r_associated | relid=0 | w=28
  4770. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:symptomatic if > 200 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:symptomatic if > 200 repeats | rel=r_associated | relid=0 | w=28
  4771. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | rel=r_associated | relid=0 | w=28
  4772. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:symptoms precipitated by sudden movements
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by sudden movements | rel=r_associated | relid=0 | w=28
  4773. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:the lower the s-ado:saicar ratio, the more severe the phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:the lower the s-ado:saicar ratio, the more severe the phenotype | rel=r_associated | relid=0 | w=28
  4774. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:those with intermediate repeat expansions show reduced penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:those with intermediate repeat expansions show reduced penetrance | rel=r_associated | relid=0 | w=28
  4775. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three families have been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4776. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three out of 4 reported patients died (last curated may 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three out of 4 reported patients died (last curated may 2014) | rel=r_associated | relid=0 | w=28
  4777. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=28
  4778. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> 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:one patient reported (last curated november 2012) | 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=28
  4779. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant
    n1=en:one patient reported (last curated november 2012) | n2=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | rel=r_associated | relid=0 | w=28
  4780. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=28
  4781. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three unrelated families have been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4782. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three unrelated families have been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=28
  4783. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three unrelated french families have been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated french families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=28
  4784. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three unrelated patients have been reported (last curated january 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated january 2010) | rel=r_associated | relid=0 | w=28
  4785. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three unrelated patients have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=28
  4786. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:three unrelated patients have been reported (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=28
  4787. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:trauma, im injection, surgery can be foci of ectopic ossification
    n1=en:one patient reported (last curated november 2012) | n2=en:trauma, im injection, surgery can be foci of ectopic ossification | rel=r_associated | relid=0 | w=28
  4788. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:treatment with folinic acid offers some benefit for anemia and seizure control
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with folinic acid offers some benefit for anemia and seizure control | rel=r_associated | relid=0 | w=28
  4789. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:tremor is aggravated by emotional stress
    n1=en:one patient reported (last curated november 2012) | n2=en:tremor is aggravated by emotional stress | rel=r_associated | relid=0 | w=28
  4790. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:tremor may be elicited by movement or postural maintenance
    n1=en:one patient reported (last curated november 2012) | n2=en:tremor may be elicited by movement or postural maintenance | rel=r_associated | relid=0 | w=28
  4791. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two adult sibs have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:two adult sibs have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  4792. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two affected females have been reported (last curated november 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two affected females have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=28
  4793. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two chinese sisters and one chinese woman have been described (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | rel=r_associated | relid=0 | w=28
  4794. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two consanguineous families with 2 patients each have been reported (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=28
  4795. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two families from the tamil nedu region of eastern india have been described (last curated november 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) | rel=r_associated | relid=0 | w=28
  4796. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two families have been reported (as of 6/2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (as of 6/2011) | rel=r_associated | relid=0 | w=28
  4797. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two families have been reported (as of june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=28
  4798. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two families reported (last curated september 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families reported (last curated september 2012) | rel=r_associated | relid=0 | w=28
  4799. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two loci described - eec1 (129900) and eec3 (604292)
    n1=en:one patient reported (last curated november 2012) | n2=en:two loci described - eec1 (129900) and eec3 (604292) | rel=r_associated | relid=0 | w=28
  4800. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two peaks of onset, childhood and adult
    n1=en:one patient reported (last curated november 2012) | n2=en:two peaks of onset, childhood and adult | rel=r_associated | relid=0 | w=28
  4801. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two sibs and an unrelated fetus have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  4802. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two sibs died before 2 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs died before 2 years of age | rel=r_associated | relid=0 | w=28
  4803. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two sibs have been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=28
  4804. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated consanguineous families have been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated consanguineous families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
  4805. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (as of july 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (as of july 2011) | rel=r_associated | relid=0 | w=28
  4806. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=28
  4807. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated families of european descent have been reported (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families of european descent have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=28
  4808. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (as of june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=28
  4809. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated june 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=28
  4810. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | rel=r_associated | relid=0 | w=28
  4811. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients with different phenotypes have been reported (as of march 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | rel=r_associated | relid=0 | w=28
  4812. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4813. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:type b characterized by dementia, motor disturbances, and facial dyskinesia
    n1=en:one patient reported (last curated november 2012) | n2=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | rel=r_associated | relid=0 | w=28
  4814. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:typical attacks last from seconds to minutes, but longer occurrences have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | rel=r_associated | relid=0 | w=28
  4815. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:typically no physical features of albright hereditary osteodystrophy (aho)
    n1=en:one patient reported (last curated november 2012) | n2=en:typically no physical features of albright hereditary osteodystrophy (aho) | rel=r_associated | relid=0 | w=28
  4816. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus
    n1=en:one patient reported (last curated november 2012) | 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=28
  4817. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:usually a sporadic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:usually a sporadic disorder | rel=r_associated | relid=0 | w=28
  4818. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:usually asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:usually asymptomatic | rel=r_associated | relid=0 | w=28
  4819. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:usually occurs in children younger than 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:usually occurs in children younger than 5 years | rel=r_associated | relid=0 | w=28
  4820. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:usually sporadic, few cases described with autosomal dominant inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:usually sporadic, few cases described with autosomal dominant inheritance | rel=r_associated | relid=0 | w=28
  4821. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 2 to 48 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 2 to 48 years) | rel=r_associated | relid=0 | w=28
  4822. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 2 to 59 years, mean 24 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 2 to 59 years, mean 24 years) | rel=r_associated | relid=0 | w=28
  4823. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 25 to 78 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 25 to 78 years) | rel=r_associated | relid=0 | w=28
  4824. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range childhood to late adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=28
  4825. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range infancy to young adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range infancy to young adult) | rel=r_associated | relid=0 | w=28
  4826. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range late infancy to adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range late infancy to adulthood) | rel=r_associated | relid=0 | w=28
  4827. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age at onset, range from infancy to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, range from infancy to adulthood | rel=r_associated | relid=0 | w=28
  4828. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable age of onset (range 4 months to 45 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (range 4 months to 45 years) | rel=r_associated | relid=0 | w=28
  4829. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable clinical features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable clinical features | rel=r_associated | relid=0 | w=28
  4830. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable clinical presentation that may change with age
    n1=en:one patient reported (last curated november 2012) | n2=en:variable clinical presentation that may change with age | rel=r_associated | relid=0 | w=28
  4831. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable expression
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expression | rel=r_associated | relid=0 | w=28
  4832. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable expressivity within a family
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expressivity within a family | rel=r_associated | relid=0 | w=28
  4833. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable features present
    n1=en:one patient reported (last curated november 2012) | n2=en:variable features present | rel=r_associated | relid=0 | w=28
  4834. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable response to acetazolamide and carbamazepine
    n1=en:one patient reported (last curated november 2012) | n2=en:variable response to acetazolamide and carbamazepine | rel=r_associated | relid=0 | w=28
  4835. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable response to levodopa treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:variable response to levodopa treatment | rel=r_associated | relid=0 | w=28
  4836. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable response to steroid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:variable response to steroid treatment | rel=r_associated | relid=0 | w=28
  4837. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:variable survival
    n1=en:one patient reported (last curated november 2012) | n2=en:variable survival | rel=r_associated | relid=0 | w=28
  4838. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:vasculitic symptoms are associated with cold exposure (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:vasculitic symptoms are associated with cold exposure (in some patients) | rel=r_associated | relid=0 | w=28
  4839. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:vast majority of heterozygotes are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:vast majority of heterozygotes are asymptomatic | rel=r_associated | relid=0 | w=28
  4840. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies
    n1=en:one patient reported (last curated november 2012) | n2=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | rel=r_associated | relid=0 | w=28
  4841. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:vhl type 2c - pheochromocytoma only
    n1=en:one patient reported (last curated november 2012) | n2=en:vhl type 2c - pheochromocytoma only | rel=r_associated | relid=0 | w=28
  4842. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:visceral manifestations are less apparent
    n1=en:one patient reported (last curated november 2012) | n2=en:visceral manifestations are less apparent | rel=r_associated | relid=0 | w=28
  4843. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:visual acuity better than anticipated from ophthalmoscopic appearance
    n1=en:one patient reported (last curated november 2012) | n2=en:visual acuity better than anticipated from ophthalmoscopic appearance | rel=r_associated | relid=0 | w=28
  4844. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:waddling gate
    n1=en:one patient reported (last curated november 2012) | n2=en:waddling gate | rel=r_associated | relid=0 | w=28
  4845. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:worldwide prevalence of 1/100,000
    n1=en:one patient reported (last curated november 2012) | n2=en:worldwide prevalence of 1/100,000 | rel=r_associated | relid=0 | w=28
  4846. en:one patient reported (last curated november 2012) -- r_associated #0: 28 / 0.651 -> en:worsening of symptoms during sleep
    n1=en:one patient reported (last curated november 2012) | n2=en:worsening of symptoms during sleep | rel=r_associated | relid=0 | w=28
  4847. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:(3) intermediate
    n1=en:one patient reported (last curated november 2012) | n2=en:(3) intermediate | rel=r_associated | relid=0 | w=27
  4848. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:1 in 17,000 in china
    n1=en:one patient reported (last curated november 2012) | n2=en:1 in 17,000 in china | rel=r_associated | relid=0 | w=27
  4849. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:10% due to paternal deletion
    n1=en:one patient reported (last curated november 2012) | n2=en:10% due to paternal deletion | rel=r_associated | relid=0 | w=27
  4850. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:20% die before age one (usually secondary to renal or laryngeal defects)
    n1=en:one patient reported (last curated november 2012) | n2=en:20% die before age one (usually secondary to renal or laryngeal defects) | rel=r_associated | relid=0 | w=27
  4851. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:23 patients from 2 kindreds reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:23 patients from 2 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=27
  4852. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:25% due to mutations in ube3a (601623)
    n1=en:one patient reported (last curated november 2012) | n2=en:25% due to mutations in ube3a (601623) | rel=r_associated | relid=0 | w=27
  4853. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:40% patients have associated abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:40% patients have associated abnormalities | rel=r_associated | relid=0 | w=27
  4854. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3
    n1=en:one patient reported (last curated november 2012) | 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=27
  4855. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect
    n1=en:one patient reported (last curated november 2012) | n2=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | rel=r_associated | relid=0 | w=27
  4856. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:a subset of patients have heterozygous mutations, which may predispose to disease development
    n1=en:one patient reported (last curated november 2012) | n2=en:a subset of patients have heterozygous mutations, which may predispose to disease development | rel=r_associated | relid=0 | w=27
  4857. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:a subset of patients may have congenital abnormalities of the ocular anterior segment
    n1=en:one patient reported (last curated november 2012) | n2=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | rel=r_associated | relid=0 | w=27
  4858. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:about 25% of cases due to new mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:about 25% of cases due to new mutations | rel=r_associated | relid=0 | w=27
  4859. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:about 50% of mutation carriers are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:about 50% of mutation carriers are asymptomatic | rel=r_associated | relid=0 | w=27
  4860. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:about a dozen patients have been reported (as of march 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:about a dozen patients have been reported (as of march 2012) | rel=r_associated | relid=0 | w=27
  4861. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:about half of patients report vestibular symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:about half of patients report vestibular symptoms | rel=r_associated | relid=0 | w=27
  4862. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:acetazolamide is often effective
    n1=en:one patient reported (last curated november 2012) | n2=en:acetazolamide is often effective | rel=r_associated | relid=0 | w=27
  4863. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:acquired autoimmune disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:acquired autoimmune disorder | rel=r_associated | relid=0 | w=27
  4864. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:acquired disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:acquired disorder | rel=r_associated | relid=0 | w=27
  4865. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:acral form of skin peeling limited to hands and feet (609796)
    n1=en:one patient reported (last curated november 2012) | n2=en:acral form of skin peeling limited to hands and feet (609796) | rel=r_associated | relid=0 | w=27
  4866. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:acral hemorrhagic variant
    n1=en:one patient reported (last curated november 2012) | n2=en:acral hemorrhagic variant | rel=r_associated | relid=0 | w=27
  4867. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:adult form onset has after 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:adult form onset has after 20 years | rel=r_associated | relid=0 | w=27
  4868. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:adult onset (27 to 48 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (27 to 48 years) | rel=r_associated | relid=0 | w=27
  4869. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:adult onset (after age 35 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (after age 35 years) | rel=r_associated | relid=0 | w=27
  4870. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:adult onset (mean 30 years, range 5-60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (mean 30 years, range 5-60 years) | rel=r_associated | relid=0 | w=27
  4871. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:adult onset (range 34 to 66 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (range 34 to 66 years) | rel=r_associated | relid=0 | w=27
  4872. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:adult onset of muscle symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset of muscle symptoms | rel=r_associated | relid=0 | w=27
  4873. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:adults may be asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:adults may be asymptomatic | rel=r_associated | relid=0 | w=27
  4874. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:affected males have onset of poor vision before the age of 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:affected males have onset of poor vision before the age of 2 years | rel=r_associated | relid=0 | w=27
  4875. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:affected, mild - 50-150 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:affected, mild - 50-150 repeats | rel=r_associated | relid=0 | w=27
  4876. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:age at diagnosis 26 +/- 14 years for recessive disease
    n1=en:one patient reported (last curated november 2012) | n2=en:age at diagnosis 26 +/- 14 years for recessive disease | rel=r_associated | relid=0 | w=27
  4877. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:age at onset ranges from 50 to 70 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset ranges from 50 to 70 years | rel=r_associated | relid=0 | w=27
  4878. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:age of onset 23-59 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 23-59 years | rel=r_associated | relid=0 | w=27
  4879. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:age of onset 28 to 70 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 28 to 70 years | rel=r_associated | relid=0 | w=27
  4880. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:age of onset between 20 to 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset between 20 to 30 years | rel=r_associated | relid=0 | w=27
  4881. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:age of onset between 5 and 10 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=27
  4882. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:age of onset between 6 to 10 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset between 6 to 10 years of age | rel=r_associated | relid=0 | w=27
  4883. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:all cases occur in old order amish, lancaster county, pennsylvania
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases occur in old order amish, lancaster county, pennsylvania | rel=r_associated | relid=0 | w=27
  4884. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:all reported cases have resulted from de novo mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:all reported cases have resulted from de novo mutations | rel=r_associated | relid=0 | w=27
  4885. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder is brugada syndrome (601144)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder is brugada syndrome (601144) | rel=r_associated | relid=0 | w=27
  4886. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | rel=r_associated | relid=0 | w=27
  4887. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to corticosterone methyloxidase type i deficiency (203400)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | rel=r_associated | relid=0 | w=27
  4888. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | rel=r_associated | relid=0 | w=27
  4889. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | rel=r_associated | relid=0 | w=27
  4890. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | rel=r_associated | relid=0 | w=27
  4891. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to spinal muscular atrophy type i (253300)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to spinal muscular atrophy type i (253300) | rel=r_associated | relid=0 | w=27
  4892. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe
    n1=en:one patient reported (last curated november 2012) | 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=27
  4893. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to the ivic syndrome (147750)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to the ivic syndrome (147750) | rel=r_associated | relid=0 | w=27
  4894. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic to deafness, autosomal recessive 12 (601386)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to deafness, autosomal recessive 12 (601386) | rel=r_associated | relid=0 | w=27
  4895. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | rel=r_associated | relid=0 | w=27
  4896. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | rel=r_associated | relid=0 | w=27
  4897. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | rel=r_associated | relid=0 | w=27
  4898. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic to myosin storage myopathy (608358)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to myosin storage myopathy (608358) | rel=r_associated | relid=0 | w=27
  4899. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:allelic to noonan syndrome (163950)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to noonan syndrome (163950) | rel=r_associated | relid=0 | w=27
  4900. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:almost all patients require total parenteral nutrition
    n1=en:one patient reported (last curated november 2012) | n2=en:almost all patients require total parenteral nutrition | rel=r_associated | relid=0 | w=27
  4901. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:alopecia usually occurs around puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:alopecia usually occurs around puberty | rel=r_associated | relid=0 | w=27
  4902. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:anemia is transfusion-dependent
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia is transfusion-dependent | rel=r_associated | relid=0 | w=27
  4903. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:anemia may show onset in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia may show onset in infancy | rel=r_associated | relid=0 | w=27
  4904. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:antenatal onset
    n1=en:one patient reported (last curated november 2012) | n2=en:antenatal onset | rel=r_associated | relid=0 | w=27
  4905. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:apparent at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:apparent at birth | rel=r_associated | relid=0 | w=27
  4906. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:approximately 12 patients have been reported (as of march 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 12 patients have been reported (as of march 2010) | rel=r_associated | relid=0 | w=27
  4907. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)
    n1=en:one patient reported (last curated november 2012) | n2=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | rel=r_associated | relid=0 | w=27
  4908. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:associated with advanced paternal age
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=27
  4909. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:associated with fragile x syndrome (300624)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with fragile x syndrome (300624) | rel=r_associated | relid=0 | w=27
  4910. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:associated with idiopathic generalized epilepsy (ige, 600669)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with idiopathic generalized epilepsy (ige, 600669) | rel=r_associated | relid=0 | w=27
  4911. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:association of cardiac events with exercise
    n1=en:one patient reported (last curated november 2012) | n2=en:association of cardiac events with exercise | rel=r_associated | relid=0 | w=27
  4912. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:asymmetric muscle involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:asymmetric muscle involvement | rel=r_associated | relid=0 | w=27
  4913. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=27
  4914. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:autosomal recessive inheritance with earlier onset has been suggested
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance with earlier onset has been suggested | rel=r_associated | relid=0 | w=27
  4915. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:average age at onset 16.6 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset 16.6 years | rel=r_associated | relid=0 | w=27
  4916. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:average age at onset is 24 years (range 4 to 58 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset is 24 years (range 4 to 58 years) | rel=r_associated | relid=0 | w=27
  4917. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:average onset 6-10 months (range 3-24)
    n1=en:one patient reported (last curated november 2012) | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=27
  4918. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:average onset of seizures 6 months (range 3-12)
    n1=en:one patient reported (last curated november 2012) | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=27
  4919. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
  4920. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on 1 4-generation chinese family
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 1 4-generation chinese family | rel=r_associated | relid=0 | w=27
  4921. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on 13 patients in one family (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 13 patients in one family (last curated november 2012) | rel=r_associated | relid=0 | w=27
  4922. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on a report of 2 unrelated saudi patients (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | rel=r_associated | relid=0 | w=27
  4923. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=27
  4924. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on description of 1 family (last curated april 2006)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on description of 1 family (last curated april 2006) | rel=r_associated | relid=0 | w=27
  4925. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on report of 1 saudi arabian family (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 saudi arabian family (last curated february 2015) | rel=r_associated | relid=0 | w=27
  4926. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on report of 2 affected brothers in 1 family (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | rel=r_associated | relid=0 | w=27
  4927. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:based on report of 2 affected sisters (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 affected sisters (last curated march 2016) | rel=r_associated | relid=0 | w=27
  4928. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:begins in feet and legs (peroneal distribution)
    n1=en:one patient reported (last curated november 2012) | n2=en:begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=27
  4929. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:begins in hands or feet, later generalized
    n1=en:one patient reported (last curated november 2012) | n2=en:begins in hands or feet, later generalized | rel=r_associated | relid=0 | w=27
  4930. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:behavioral problems including stubbornness and rage
    n1=en:one patient reported (last curated november 2012) | n2=en:behavioral problems including stubbornness and rage | rel=r_associated | relid=0 | w=27
  4931. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:benign condition
    n1=en:one patient reported (last curated november 2012) | n2=en:benign condition | rel=r_associated | relid=0 | w=27
  4932. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:bleeding after trauma or surgery
    n1=en:one patient reported (last curated november 2012) | n2=en:bleeding after trauma or surgery | rel=r_associated | relid=0 | w=27
  4933. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:blindness episodes are not associated with fhm episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:blindness episodes are not associated with fhm episodes | rel=r_associated | relid=0 | w=27
  4934. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:blistering becomes confined to the palms and soles with age
    n1=en:one patient reported (last curated november 2012) | n2=en:blistering becomes confined to the palms and soles with age | rel=r_associated | relid=0 | w=27
  4935. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:both demyelinating and axonal features
    n1=en:one patient reported (last curated november 2012) | n2=en:both demyelinating and axonal features | rel=r_associated | relid=0 | w=27
  4936. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:both homozygous and heterozygous mutations in lrsam1 have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:both homozygous and heterozygous mutations in lrsam1 have been reported | rel=r_associated | relid=0 | w=27
  4937. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives
    n1=en:one patient reported (last curated november 2012) | n2=en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives | rel=r_associated | relid=0 | w=27
  4938. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:c10orf2 mutations account for approximately 35% of all peo cases
    n1=en:one patient reported (last curated november 2012) | n2=en:c10orf2 mutations account for approximately 35% of all peo cases | rel=r_associated | relid=0 | w=27
  4939. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:carrier females are unaffected
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females are unaffected | rel=r_associated | relid=0 | w=27
  4940. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:carrier females may have mild features
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females may have mild features | rel=r_associated | relid=0 | w=27
  4941. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:central apneic episodes may be fatal
    n1=en:one patient reported (last curated november 2012) | n2=en:central apneic episodes may be fatal | rel=r_associated | relid=0 | w=27
  4942. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:changes more marked in hands than feet
    n1=en:one patient reported (last curated november 2012) | n2=en:changes more marked in hands than feet | rel=r_associated | relid=0 | w=27
  4943. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:childhood onset may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood onset may occur | rel=r_associated | relid=0 | w=27
  4944. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:childhood or young adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:childhood or young adult onset | rel=r_associated | relid=0 | w=27
  4945. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:clinical onset within first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical onset within first 2 years of life | rel=r_associated | relid=0 | w=27
  4946. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:clinical overlap with charcot-marie-tooth disease type 2c (606071)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | rel=r_associated | relid=0 | w=27
  4947. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:cold-induced sweating develops late in the first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:cold-induced sweating develops late in the first decade | rel=r_associated | relid=0 | w=27
  4948. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:common in japan and other asian populations
    n1=en:one patient reported (last curated november 2012) | n2=en:common in japan and other asian populations | rel=r_associated | relid=0 | w=27
  4949. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:complete penetrance but extreme variability of phenotypic expression
    n1=en:one patient reported (last curated november 2012) | n2=en:complete penetrance but extreme variability of phenotypic expression | rel=r_associated | relid=0 | w=27
  4950. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:congenital onset
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital onset | rel=r_associated | relid=0 | w=27
  4951. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)
    n1=en:one patient reported (last curated november 2012) | n2=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | rel=r_associated | relid=0 | w=27
  4952. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism
    n1=en:one patient reported (last curated november 2012) | n2=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | rel=r_associated | relid=0 | w=27
  4953. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:contractures other than plantar are less common and less severe
    n1=en:one patient reported (last curated november 2012) | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=27
  4954. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:date of analysis:tmstp:pt:xxx:qn
    n1=en:one patient reported (last curated november 2012) | n2=en:date of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=27
  4955. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative | rel=r_associated | relid=0 | w=27
  4956. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:de novo deletions in 8% of patients (preferentially paternally derived)
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo deletions in 8% of patients (preferentially paternally derived) | rel=r_associated | relid=0 | w=27
  4957. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:de novo mutation in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutation in most patients | rel=r_associated | relid=0 | w=27
  4958. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death by age 5 (infantile form)
    n1=en:one patient reported (last curated november 2012) | n2=en:death by age 5 (infantile form) | rel=r_associated | relid=0 | w=27
  4959. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death from stroke if untreated
    n1=en:one patient reported (last curated november 2012) | n2=en:death from stroke if untreated | rel=r_associated | relid=0 | w=27
  4960. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood | rel=r_associated | relid=0 | w=27
  4961. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death in childhood occurs without bone marrow transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood occurs without bone marrow transplantation | rel=r_associated | relid=0 | w=27
  4962. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death in childhood secondary to malabsorption
    n1=en:one patient reported (last curated november 2012) | n2=en:death in childhood secondary to malabsorption | rel=r_associated | relid=0 | w=27
  4963. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death in first days or months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death in first days or months of life | rel=r_associated | relid=0 | w=27
  4964. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death in perinatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=27
  4965. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death may occur in late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:death may occur in late childhood | rel=r_associated | relid=0 | w=27
  4966. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death occurs in second or third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death occurs in second or third decade | rel=r_associated | relid=0 | w=27
  4967. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death often in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death often in infancy | rel=r_associated | relid=0 | w=27
  4968. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death often in the teenage years
    n1=en:one patient reported (last curated november 2012) | n2=en:death often in the teenage years | rel=r_associated | relid=0 | w=27
  4969. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death often occurs during metabolic/acidotic crisis
    n1=en:one patient reported (last curated november 2012) | n2=en:death often occurs during metabolic/acidotic crisis | rel=r_associated | relid=0 | w=27
  4970. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death secondary to respiratory insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:death secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=27
  4971. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death usually by age 10 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually by age 10 years | rel=r_associated | relid=0 | w=27
  4972. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death usually in the first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in the first 2 years of life | rel=r_associated | relid=0 | w=27
  4973. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death usually occurs by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs by age 2 years | rel=r_associated | relid=0 | w=27
  4974. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death usually occurs in the first weeks to months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs in the first weeks to months of life | rel=r_associated | relid=0 | w=27
  4975. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death within 12 months
    n1=en:one patient reported (last curated november 2012) | n2=en:death within 12 months | rel=r_associated | relid=0 | w=27
  4976. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death within first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:death within first decade | rel=r_associated | relid=0 | w=27
  4977. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:death within first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:death within first year of life | rel=r_associated | relid=0 | w=27
  4978. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:described in one 5-generation pakistani family (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:described in one 5-generation pakistani family (last curated april 2013) | rel=r_associated | relid=0 | w=27
  4979. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features
    n1=en:one patient reported (last curated november 2012) | 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=27
  4980. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses
    n1=en:one patient reported (last curated november 2012) | n2=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | rel=r_associated | relid=0 | w=27
  4981. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:disorder becomes apparent around age 2 years when patients begin to walk
    n1=en:one patient reported (last curated november 2012) | n2=en:disorder becomes apparent around age 2 years when patients begin to walk | rel=r_associated | relid=0 | w=27
  4982. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:distinct disorder from marinesco-sjogren syndrome (mss, 248800)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | rel=r_associated | relid=0 | w=27
  4983. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:early death may occur due to infection
    n1=en:one patient reported (last curated november 2012) | n2=en:early death may occur due to infection | rel=r_associated | relid=0 | w=27
  4984. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:encephalopathic episodes associated with increased serum and csf lactate
    n1=en:one patient reported (last curated november 2012) | n2=en:encephalopathic episodes associated with increased serum and csf lactate | rel=r_associated | relid=0 | w=27
  4985. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:end-stage renal failure in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:end-stage renal failure in first decade | rel=r_associated | relid=0 | w=27
  4986. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:end-stage renal failure in first or second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:end-stage renal failure in first or second decade | rel=r_associated | relid=0 | w=27
  4987. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:epilepsy with grand mal seizures on awakening (egma, 607628)
    n1=en:one patient reported (last curated november 2012) | n2=en:epilepsy with grand mal seizures on awakening (egma, 607628) | rel=r_associated | relid=0 | w=27
  4988. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:episodes are triggered by cold exposure
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes are triggered by cold exposure | rel=r_associated | relid=0 | w=27
  4989. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:episodes are triggered by hunger, fatigue, cold, stress
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes are triggered by hunger, fatigue, cold, stress | rel=r_associated | relid=0 | w=27
  4990. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:estimated incidence 1/20,000 - 1/40,000
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated incidence 1/20,000 - 1/40,000 | rel=r_associated | relid=0 | w=27
  4991. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:evidence of prenatal fractures
    n1=en:one patient reported (last curated november 2012) | n2=en:evidence of prenatal fractures | rel=r_associated | relid=0 | w=27
  4992. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:exacerbated by stress
    n1=en:one patient reported (last curated november 2012) | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=27
  4993. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:exacerbation at puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:exacerbation at puberty | rel=r_associated | relid=0 | w=27
  4994. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:excessive posttraumatic blood loss
    n1=en:one patient reported (last curated november 2012) | n2=en:excessive posttraumatic blood loss | rel=r_associated | relid=0 | w=27
  4995. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:existence as a distinct entity is not confirmed
    n1=en:one patient reported (last curated november 2012) | n2=en:existence as a distinct entity is not confirmed | rel=r_associated | relid=0 | w=27
  4996. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:exon 7 of smn1 is absent in 95.6% of sma1 patients
    n1=en:one patient reported (last curated november 2012) | n2=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | rel=r_associated | relid=0 | w=27
  4997. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:extracutaneous manifestations are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:extracutaneous manifestations are variable | rel=r_associated | relid=0 | w=27
  4998. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:facial appearance becomes more apparent with age
    n1=en:one patient reported (last curated november 2012) | n2=en:facial appearance becomes more apparent with age | rel=r_associated | relid=0 | w=27
  4999. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:familial cases are rare and show incomplete penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:familial cases are rare and show incomplete penetrance | rel=r_associated | relid=0 | w=27
  5000. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:familial form - constitutional deficiency of vwf-cleaving protease
    n1=en:one patient reported (last curated november 2012) | n2=en:familial form - constitutional deficiency of vwf-cleaving protease | rel=r_associated | relid=0 | w=27
  5001. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:fatal if renal transplant is not performed
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal if renal transplant is not performed | rel=r_associated | relid=0 | w=27
  5002. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:fatal multiorgan failure due to severe inflammatory response in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal multiorgan failure due to severe inflammatory response in some patients | rel=r_associated | relid=0 | w=27
  5003. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:favorable response to alcohol in about 50%
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to alcohol in about 50% | rel=r_associated | relid=0 | w=27
  5004. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:favorable response to flunarizine
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to flunarizine | rel=r_associated | relid=0 | w=27
  5005. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:favorable response to treatment with riboflavin
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to treatment with riboflavin | rel=r_associated | relid=0 | w=27
  5006. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:favorable response to ursodeoxycholic acid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to ursodeoxycholic acid treatment | rel=r_associated | relid=0 | w=27
  5007. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:female carriers experience significant clinical manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers experience significant clinical manifestations | rel=r_associated | relid=0 | w=27
  5008. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:female carriers may develop mild hearing loss as adults
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may develop mild hearing loss as adults | rel=r_associated | relid=0 | w=27
  5009. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | rel=r_associated | relid=0 | w=27
  5010. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:female carriers may have mild hearing impairment and/or mild signs of choroideremia
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | rel=r_associated | relid=0 | w=27
  5011. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:female preponderance
    n1=en:one patient reported (last curated november 2012) | n2=en:female preponderance | rel=r_associated | relid=0 | w=27
  5012. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:female to male ratio, 1:1
    n1=en:one patient reported (last curated november 2012) | n2=en:female to male ratio, 1:1 | rel=r_associated | relid=0 | w=27
  5013. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:females have milder manifestations than males
    n1=en:one patient reported (last curated november 2012) | n2=en:females have milder manifestations than males | rel=r_associated | relid=0 | w=27
  5014. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:females may be unaffected or mildly affected
    n1=en:one patient reported (last curated november 2012) | n2=en:females may be unaffected or mildly affected | rel=r_associated | relid=0 | w=27
  5015. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:females tend to have earlier onset
    n1=en:one patient reported (last curated november 2012) | n2=en:females tend to have earlier onset | rel=r_associated | relid=0 | w=27
  5016. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:one patient reported (last curated november 2012) | 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=27
  5017. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:flunarizine treatment may be beneficial
    n1=en:one patient reported (last curated november 2012) | n2=en:flunarizine treatment may be beneficial | rel=r_associated | relid=0 | w=27
  5018. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:focal or segmental onset in cranial-cervical area or upper limbs
    n1=en:one patient reported (last curated november 2012) | n2=en:focal or segmental onset in cranial-cervical area or upper limbs | rel=r_associated | relid=0 | w=27
  5019. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:for similar autosomal recessive form, see cln4 (204300)
    n1=en:one patient reported (last curated november 2012) | n2=en:for similar autosomal recessive form, see cln4 (204300) | rel=r_associated | relid=0 | w=27
  5020. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:four patients from 3 families have been reported (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients from 3 families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=27
  5021. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:four patients have been reported from pakistan (as of march 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients have been reported from pakistan (as of march 2011) | rel=r_associated | relid=0 | w=27
  5022. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:four unrelated families have been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:four unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=27
  5023. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:fractures decrease after puberty but increase after menopause
    n1=en:one patient reported (last curated november 2012) | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=27
  5024. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:frequency and severity of seizures tends to decrease with age
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency and severity of seizures tends to decrease with age | rel=r_associated | relid=0 | w=27
  5025. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:gait abnormality
    n1=en:one patient reported (last curated november 2012) | n2=en:gait abnormality | rel=r_associated | relid=0 | w=27
  5026. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:gastrointestinal anomalies are not always present
    n1=en:one patient reported (last curated november 2012) | n2=en:gastrointestinal anomalies are not always present | rel=r_associated | relid=0 | w=27
  5027. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:gei (gene-environment interaction) - association of cardiac events with drug administration
    n1=en:one patient reported (last curated november 2012) | n2=en:gei (gene-environment interaction) - association of cardiac events with drug administration | rel=r_associated | relid=0 | w=27
  5028. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity | rel=r_associated | relid=0 | w=27
  5029. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see 145410)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 145410) | rel=r_associated | relid=0 | w=27
  5030. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see 192600)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 192600) | rel=r_associated | relid=0 | w=27
  5031. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see 610168)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 610168) | rel=r_associated | relid=0 | w=27
  5032. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | rel=r_associated | relid=0 | w=27
  5033. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see npc1, 257220)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see npc1, 257220) | rel=r_associated | relid=0 | w=27
  5034. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see psnp1 601104)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see psnp1 601104) | rel=r_associated | relid=0 | w=27
  5035. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see rmd, 606072)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see rmd, 606072) | rel=r_associated | relid=0 | w=27
  5036. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (x-linked form 305100)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (x-linked form 305100) | rel=r_associated | relid=0 | w=27
  5037. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see apmr1 (203650)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see apmr1 (203650) | rel=r_associated | relid=0 | w=27
  5038. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see aprm2 (610422)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see aprm2 (610422) | rel=r_associated | relid=0 | w=27
  5039. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see sca1 (164400)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see sca1 (164400) | rel=r_associated | relid=0 | w=27
  5040. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:good response to medication
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to medication | rel=r_associated | relid=0 | w=27
  5041. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:good seizure control with medication
    n1=en:one patient reported (last curated november 2012) | n2=en:good seizure control with medication | rel=r_associated | relid=0 | w=27
  5042. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:hair may normalize at puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:hair may normalize at puberty | rel=r_associated | relid=0 | w=27
  5043. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:hair regrowth may occur later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=27
  5044. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:health data repository:id:pt:repository:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:health data repository:id:pt:repository:nom | rel=r_associated | relid=0 | w=27
  5045. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:hearing impairment may improve with age
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing impairment may improve with age | rel=r_associated | relid=0 | w=27
  5046. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | rel=r_associated | relid=0 | w=27
  5047. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct
    n1=en:one patient reported (last curated november 2012) | n2=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | rel=r_associated | relid=0 | w=27
  5048. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> 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:one patient reported (last curated november 2012) | 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=27
  5049. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:heterozygotes are not affected
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=27
  5050. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:heterozygous carriers have an increased risk of metabolic dysfunction
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous carriers have an increased risk of metabolic dysfunction | rel=r_associated | relid=0 | w=27
  5051. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | rel=r_associated | relid=0 | w=27
  5052. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:high frequency among french-canadians
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency among french-canadians | rel=r_associated | relid=0 | w=27
  5053. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300)
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | rel=r_associated | relid=0 | w=27
  5054. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:high frequency in northeastern brazil
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in northeastern brazil | rel=r_associated | relid=0 | w=27
  5055. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:high frequency seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency seizures | rel=r_associated | relid=0 | w=27
  5056. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:high incidence of diabetes mellitus noted in opll patients
    n1=en:one patient reported (last curated november 2012) | n2=en:high incidence of diabetes mellitus noted in opll patients | rel=r_associated | relid=0 | w=27
  5057. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:high pain threshold
    n1=en:one patient reported (last curated november 2012) | n2=en:high pain threshold | rel=r_associated | relid=0 | w=27
  5058. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=27
  5059. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:highly variable severity
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable severity | rel=r_associated | relid=0 | w=27
  5060. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:highly variable severity and features
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=27
  5061. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> 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:one patient reported (last curated november 2012) | 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=27
  5062. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:immunodeficiency is progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:immunodeficiency is progressive | rel=r_associated | relid=0 | w=27
  5063. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:improvement of epimetaphyseal changes with age
    n1=en:one patient reported (last curated november 2012) | n2=en:improvement of epimetaphyseal changes with age | rel=r_associated | relid=0 | w=27
  5064. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease
    n1=en:one patient reported (last curated november 2012) | n2=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | rel=r_associated | relid=0 | w=27
  5065. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incidence 1 in 20,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1 in 20,000 | rel=r_associated | relid=0 | w=27
  5066. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incidence 1 in 30,000 male births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=27
  5067. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incidence of 0.51 per million in france
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 0.51 per million in france | rel=r_associated | relid=0 | w=27
  5068. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 1,000,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 1,000,000 | rel=r_associated | relid=0 | w=27
  5069. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 5,000 to 1 in 10,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=27
  5070. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incidence of mh in anesthetized children is 1 in 15,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of mh in anesthetized children is 1 in 15,000 | rel=r_associated | relid=0 | w=27
  5071. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incomplete penetrance (range 13% to 77% by 50 years of age)
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance (range 13% to 77% by 50 years of age) | rel=r_associated | relid=0 | w=27
  5072. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:incomplete penetrance with 45 to 51 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=27
  5073. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased abortuses of homozygous or compound heterozygous fetuses
    n1=en:one patient reported (last curated november 2012) | n2=en:increased abortuses of homozygous or compound heterozygous fetuses | rel=r_associated | relid=0 | w=27
  5074. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased bleeding after surgery
    n1=en:one patient reported (last curated november 2012) | n2=en:increased bleeding after surgery | rel=r_associated | relid=0 | w=27
  5075. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased frequency in individuals originating from western scotland
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in individuals originating from western scotland | rel=r_associated | relid=0 | w=27
  5076. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased prevalence in individuals of jewish-iraqi origin
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence in individuals of jewish-iraqi origin | rel=r_associated | relid=0 | w=27
  5077. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased prevalence in individuals of turkish descent
    n1=en:one patient reported (last curated november 2012) | n2=en:increased prevalence in individuals of turkish descent | rel=r_associated | relid=0 | w=27
  5078. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased rate of miscarriage in affected individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:increased rate of miscarriage in affected individuals | rel=r_associated | relid=0 | w=27
  5079. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased risk of miscarriage
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of miscarriage | rel=r_associated | relid=0 | w=27
  5080. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii
    n1=en:one patient reported (last curated november 2012) | n2=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | rel=r_associated | relid=0 | w=27
  5081. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:increasing hypertension with increasing age
    n1=en:one patient reported (last curated november 2012) | n2=en:increasing hypertension with increasing age | rel=r_associated | relid=0 | w=27
  5082. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)
    n1=en:one patient reported (last curated november 2012) | 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=27
  5083. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:infantile onset (in 1 patient)
    n1=en:one patient reported (last curated november 2012) | n2=en:infantile onset (in 1 patient) | rel=r_associated | relid=0 | w=27
  5084. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:infantile, late-infantile, juvenile, and adult onset have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=27
  5085. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:infants show normal size and appearance
    n1=en:one patient reported (last curated november 2012) | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=27
  5086. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:inheritance may be x-linked dominant
    n1=en:one patient reported (last curated november 2012) | n2=en:inheritance may be x-linked dominant | rel=r_associated | relid=0 | w=27
  5087. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:interfamilial and intrafamilial clinical heterogeneity
    n1=en:one patient reported (last curated november 2012) | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=27
  5088. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:intracellular accumulation of material may not always be apparent
    n1=en:one patient reported (last curated november 2012) | n2=en:intracellular accumulation of material may not always be apparent | rel=r_associated | relid=0 | w=27
  5089. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:intrafamilial variability in severity
    n1=en:one patient reported (last curated november 2012) | n2=en:intrafamilial variability in severity | rel=r_associated | relid=0 | w=27
  5090. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:isolated cases
    n1=en:one patient reported (last curated november 2012) | n2=en:isolated cases | rel=r_associated | relid=0 | w=27
  5091. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:joint replacement often necessary
    n1=en:one patient reported (last curated november 2012) | n2=en:joint replacement often necessary | rel=r_associated | relid=0 | w=27
  5092. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:juvenile and adult forms are isolated glycerol kinase deficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile and adult forms are isolated glycerol kinase deficiency | rel=r_associated | relid=0 | w=27
  5093. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:juvenile myoclonic epilepsy (jme, 606904)
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile myoclonic epilepsy (jme, 606904) | rel=r_associated | relid=0 | w=27
  5094. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:juvenile onset 4 years to puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=27
  5095. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:late adult onset (after age 55 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=27
  5096. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:late-adult onset
    n1=en:one patient reported (last curated november 2012) | n2=en:late-adult onset | rel=r_associated | relid=0 | w=27
  5097. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:later onset in adolescence has rarely been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset in adolescence has rarely been reported | rel=r_associated | relid=0 | w=27
  5098. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=27
  5099. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:length of calorie fast:time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:length of calorie fast:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
  5100. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:lethal in utero or in the perinatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:lethal in utero or in the perinatal period | rel=r_associated | relid=0 | w=27
  5101. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:life-threatening infections
    n1=en:one patient reported (last curated november 2012) | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=27
  5102. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:lifetime risk of breast cancer in mutation carriers is 60 to 85%
    n1=en:one patient reported (last curated november 2012) | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=27
  5103. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:liver failure episodes cease in later childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:liver failure episodes cease in later childhood | rel=r_associated | relid=0 | w=27
  5104. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:long duration
    n1=en:one patient reported (last curated november 2012) | n2=en:long duration | rel=r_associated | relid=0 | w=27
  5105. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:majority of cases in manitoba indians, northeastern manitoba, canada
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases in manitoba indians, northeastern manitoba, canada | rel=r_associated | relid=0 | w=27
  5106. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:majority of patients develop symptoms within the first few weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of patients develop symptoms within the first few weeks of life | rel=r_associated | relid=0 | w=27
  5107. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:majority of wilms tumors are sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of wilms tumors are sporadic | rel=r_associated | relid=0 | w=27
  5108. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:males are most severely affected, but females can also be affected
    n1=en:one patient reported (last curated november 2012) | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=27
  5109. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:many patients recover normally
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients recover normally | rel=r_associated | relid=0 | w=27
  5110. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> 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:one patient reported (last curated november 2012) | 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=27
  5111. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:marked clinical variability within families
    n1=en:one patient reported (last curated november 2012) | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=27
  5112. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:marked heterogeneity
    n1=en:one patient reported (last curated november 2012) | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=27
  5113. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)
    n1=en:one patient reported (last curated november 2012) | 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=27
  5114. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:may be fatal
    n1=en:one patient reported (last curated november 2012) | n2=en:may be fatal | rel=r_associated | relid=0 | w=27
  5115. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:may be precipitated by minor illness (e.g., viral infection, fever)
    n1=en:one patient reported (last curated november 2012) | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=27
  5116. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:may have seasonal variance in severity
    n1=en:one patient reported (last curated november 2012) | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=27
  5117. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:may not be clinically manifest until middle life
    n1=en:one patient reported (last curated november 2012) | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=27
  5118. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:may or may not be responsive to pyridoxine (vitamin b6) treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | rel=r_associated | relid=0 | w=27
  5119. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:may progress to other body regions after many years
    n1=en:one patient reported (last curated november 2012) | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=27
  5120. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:may result in early death
    n1=en:one patient reported (last curated november 2012) | n2=en:may result in early death | rel=r_associated | relid=0 | w=27
  5121. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at diagnosis 8.8 years (range 0.2-23 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=27
  5122. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 15.2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=27
  5123. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 45 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 45 years | rel=r_associated | relid=0 | w=27
  5124. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 48 years (range 38 to 64)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 48 years (range 38 to 64) | rel=r_associated | relid=0 | w=27
  5125. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 5 years | rel=r_associated | relid=0 | w=27
  5126. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 57-60 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=27
  5127. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 66.8 years (range 47-77)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=27
  5128. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age at onset of bone fractures, 24 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=27
  5129. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mean age of onset 30 years (range first to seventh decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset 30 years (range first to seventh decade) | rel=r_associated | relid=0 | w=27
  5130. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:metabolic rate^resting:engrat:pt:^patient:qn
    n1=en:one patient reported (last curated november 2012) | n2=en:metabolic rate^resting:engrat:pt:^patient:qn | rel=r_associated | relid=0 | w=27
  5131. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mild disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:mild disorder | rel=r_associated | relid=0 | w=27
  5132. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:more common in ashkenazi jews
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in ashkenazi jews | rel=r_associated | relid=0 | w=27
  5133. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:more common in women (90%)
    n1=en:one patient reported (last curated november 2012) | n2=en:more common in women (90%) | rel=r_associated | relid=0 | w=27
  5134. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:more frequent in females
    n1=en:one patient reported (last curated november 2012) | n2=en:more frequent in females | rel=r_associated | relid=0 | w=27
  5135. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:more than half of patients develop retinal detachments and/or retinoschisis later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | rel=r_associated | relid=0 | w=27
  5136. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mosaic distribution of lesions
    n1=en:one patient reported (last curated november 2012) | n2=en:mosaic distribution of lesions | rel=r_associated | relid=0 | w=27
  5137. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most affected infants die in the first month of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most affected infants die in the first month of life | rel=r_associated | relid=0 | w=27
  5138. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most cases occur de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases occur de novo | rel=r_associated | relid=0 | w=27
  5139. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most common form of childhood idiopathic epilepsy
    n1=en:one patient reported (last curated november 2012) | n2=en:most common form of childhood idiopathic epilepsy | rel=r_associated | relid=0 | w=27
  5140. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most common inherited ataxia
    n1=en:one patient reported (last curated november 2012) | n2=en:most common inherited ataxia | rel=r_associated | relid=0 | w=27
  5141. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most common muscle disease of older persons
    n1=en:one patient reported (last curated november 2012) | n2=en:most common muscle disease of older persons | rel=r_associated | relid=0 | w=27
  5142. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most frequently affected joints - hands (98%) and feet (88%)
    n1=en:one patient reported (last curated november 2012) | n2=en:most frequently affected joints - hands (98%) and feet (88%) | rel=r_associated | relid=0 | w=27
  5143. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most patients die in first years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die in first years of life | rel=r_associated | relid=0 | w=27
  5144. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:most patients have contiguous gene deletion syndrome involving xp22
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients have contiguous gene deletion syndrome involving xp22 | rel=r_associated | relid=0 | w=27
  5145. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:motor impairment more significant than sensory impairment
    n1=en:one patient reported (last curated november 2012) | n2=en:motor impairment more significant than sensory impairment | rel=r_associated | relid=0 | w=27
  5146. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s)
    n1=en:one patient reported (last curated november 2012) | n2=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | rel=r_associated | relid=0 | w=27
  5147. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:multiple lesions in familial cases
    n1=en:one patient reported (last curated november 2012) | n2=en:multiple lesions in familial cases | rel=r_associated | relid=0 | w=27
  5148. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:multiple seizures daily at onset
    n1=en:one patient reported (last curated november 2012) | n2=en:multiple seizures daily at onset | rel=r_associated | relid=0 | w=27
  5149. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:muscle contractions in infancy occur in response to tactile stimulation or crying
    n1=en:one patient reported (last curated november 2012) | n2=en:muscle contractions in infancy occur in response to tactile stimulation or crying | rel=r_associated | relid=0 | w=27
  5150. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase
    n1=en:one patient reported (last curated november 2012) | 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=27
  5151. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mutation in npr2 results in gain-of-function
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation in npr2 results in gain-of-function | rel=r_associated | relid=0 | w=27
  5152. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mutation in rp9 gene in family (607331.0001) likely not pathogenic
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | rel=r_associated | relid=0 | w=27
  5153. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:mutation in the hcrt gene has been identified in 1 patient
    n1=en:one patient reported (last curated november 2012) | n2=en:mutation in the hcrt gene has been identified in 1 patient | rel=r_associated | relid=0 | w=27
  5154. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:neurologic dysfunction is infrequent and associated with delayed diagnosis
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | rel=r_associated | relid=0 | w=27
  5155. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:neurologic signs onset during adolescence or young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic signs onset during adolescence or young adulthood | rel=r_associated | relid=0 | w=27
  5156. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:neurologic symptoms may occur after trauma
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic symptoms may occur after trauma | rel=r_associated | relid=0 | w=27
  5157. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:no peripheral signs of hypothyroidism
    n1=en:one patient reported (last curated november 2012) | n2=en:no peripheral signs of hypothyroidism | rel=r_associated | relid=0 | w=27
  5158. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:no predisposition to skin tumor development
    n1=en:one patient reported (last curated november 2012) | n2=en:no predisposition to skin tumor development | rel=r_associated | relid=0 | w=27
  5159. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:no response to phenobarbital
    n1=en:one patient reported (last curated november 2012) | n2=en:no response to phenobarbital | rel=r_associated | relid=0 | w=27
  5160. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:no situs inversus
    n1=en:one patient reported (last curated november 2012) | n2=en:no situs inversus | rel=r_associated | relid=0 | w=27
  5161. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:non-tender
    n1=en:one patient reported (last curated november 2012) | n2=en:non-tender | rel=r_associated | relid=0 | w=27
  5162. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:nonprogressive in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:nonprogressive in most patients | rel=r_associated | relid=0 | w=27
  5163. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:nonsyndromic
    n1=en:one patient reported (last curated november 2012) | n2=en:nonsyndromic | rel=r_associated | relid=0 | w=27
  5164. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:normal alleles have 25 to 44 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:normal alleles have 25 to 44 repeats | rel=r_associated | relid=0 | w=27
  5165. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:normal intelligence in majority
    n1=en:one patient reported (last curated november 2012) | n2=en:normal intelligence in majority | rel=r_associated | relid=0 | w=27
  5166. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
  5167. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa
    n1=en:one patient reported (last curated november 2012) | 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=27
  5168. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one 3-generation danish family reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 3-generation danish family reported (last curated march 2015) | rel=r_associated | relid=0 | w=27
  5169. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one 3-generation italian family has been described (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one 3-generation italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=27
  5170. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one chinese family and 1 unrelated patient have been reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=27
  5171. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family has been reported (as of january 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=27
  5172. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family reported (last curated august 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family reported (last curated august 2013) | rel=r_associated | relid=0 | w=27
  5173. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani reported (last curated july 2015) | rel=r_associated | relid=0 | w=27
  5174. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one consanguineous tunisian family has been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous tunisian family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=27
  5175. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one consanguineous turkish family has been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous turkish family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=27
  5176. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of 4/2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of 4/2010) | rel=r_associated | relid=0 | w=27
  5177. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of curation date may, 2013) onset in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of curation date may, 2013) onset in infancy | rel=r_associated | relid=0 | w=27
  5178. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of january 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of january 2011) | rel=r_associated | relid=0 | w=27
  5179. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of october 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of october 2010) | rel=r_associated | relid=0 | w=27
  5180. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated february 2014) | rel=r_associated | relid=0 | w=27
  5181. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=27
  5182. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  5183. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated october 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated october 2013) | rel=r_associated | relid=0 | w=27
  5184. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated september 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27
  5185. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family of algerian descent has been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of algerian descent has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=27
  5186. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) | rel=r_associated | relid=0 | w=27
  5187. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=27
  5188. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=27
  5189. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one italian family has been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one italian family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
  5190. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one large 4-generation uruguayan family reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large 4-generation uruguayan family reported (last curated august 2014) | rel=r_associated | relid=0 | w=27
  5191. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) | rel=r_associated | relid=0 | w=27
  5192. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one of the 2 most common forms of albinism in the world, along with oca2
    n1=en:one patient reported (last curated november 2012) | n2=en:one of the 2 most common forms of albinism in the world, along with oca2 | rel=r_associated | relid=0 | w=27
  5193. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one of the most common autoimmune diseases
    n1=en:one patient reported (last curated november 2012) | n2=en:one of the most common autoimmune diseases | rel=r_associated | relid=0 | w=27
  5194. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> 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:one patient reported (last curated november 2012) | 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=27
  5195. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (as of july 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of july 2010) | rel=r_associated | relid=0 | w=27
  5196. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=27
  5197. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one patient studied at molecular level (as of july 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient studied at molecular level (as of july 2011) | rel=r_associated | relid=0 | w=27
  5198. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one patient with additional features of fanconi anemia has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with additional features of fanconi anemia has been reported | rel=r_associated | relid=0 | w=27
  5199. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=27
  5200. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:one turkish girl has been reported (last curated april 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one turkish girl has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=27
  5201. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:only 46,xy individuals are affected
    n1=en:one patient reported (last curated november 2012) | n2=en:only 46,xy individuals are affected | rel=r_associated | relid=0 | w=27
  5202. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:only apparent in patients taking eculizumab
    n1=en:one patient reported (last curated november 2012) | n2=en:only apparent in patients taking eculizumab | rel=r_associated | relid=0 | w=27
  5203. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset 1-12 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 1-12 years | rel=r_associated | relid=0 | w=27
  5204. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset 20-55 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 20-55 years of age | rel=r_associated | relid=0 | w=27
  5205. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset 6 to 12 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 6 to 12 months | rel=r_associated | relid=0 | w=27
  5206. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset at 4 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at 4 years of age | rel=r_associated | relid=0 | w=27
  5207. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset at birth or in first months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at birth or in first months of life | rel=r_associated | relid=0 | w=27
  5208. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset at day 1 of life has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at day 1 of life has been reported | rel=r_associated | relid=0 | w=27
  5209. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset at early age, associated with sudden death in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at early age, associated with sudden death in childhood | rel=r_associated | relid=0 | w=27
  5210. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset at or soon after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset at or soon after birth | rel=r_associated | relid=0 | w=27
  5211. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset before 18 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before 18 months of age | rel=r_associated | relid=0 | w=27
  5212. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset before age 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before age 20 years | rel=r_associated | relid=0 | w=27
  5213. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset before age 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset before age 40 years | rel=r_associated | relid=0 | w=27
  5214. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset between 12 and 30 years (average 22)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 12 and 30 years (average 22) | rel=r_associated | relid=0 | w=27
  5215. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset between 13 to 37 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 13 to 37 years | rel=r_associated | relid=0 | w=27
  5216. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset between 15 and 27 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 15 and 27 years | rel=r_associated | relid=0 | w=27
  5217. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset between 3 and 11 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 3 and 11 years of age | rel=r_associated | relid=0 | w=27
  5218. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset between 3 and 6 months of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 3 and 6 months of age | rel=r_associated | relid=0 | w=27
  5219. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset between 8 and 30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 8 and 30 years | rel=r_associated | relid=0 | w=27
  5220. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset bimodal, ages 16-22 and ages 57-60
    n1=en:one patient reported (last curated november 2012) | n2=en:onset bimodal, ages 16-22 and ages 57-60 | rel=r_associated | relid=0 | w=27
  5221. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (6-7 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (6-7 years) | rel=r_associated | relid=0 | w=27
  5222. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (range 0.5 to 7 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range 0.5 to 7 years) | rel=r_associated | relid=0 | w=27
  5223. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in childhood or second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or second decade | rel=r_associated | relid=0 | w=27
  5224. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in childhood or youth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or youth | rel=r_associated | relid=0 | w=27
  5225. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in early childhood (infancy to 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood (infancy to 6 years) | rel=r_associated | relid=0 | w=27
  5226. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade | rel=r_associated | relid=0 | w=27
  5227. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age | rel=r_associated | relid=0 | w=27
  5228. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in infancy (average 4 months, but may be earlier)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy (average 4 months, but may be earlier) | rel=r_associated | relid=0 | w=27
  5229. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in infancy (first year of life)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy (first year of life) | rel=r_associated | relid=0 | w=27
  5230. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in infancy or early childhood (birth to 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or early childhood (birth to 6 years) | rel=r_associated | relid=0 | w=27
  5231. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in late teens to early forties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late teens to early forties | rel=r_associated | relid=0 | w=27
  5232. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in newborns or infants
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in newborns or infants | rel=r_associated | relid=0 | w=27
  5233. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in second and third decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second and third decades | rel=r_associated | relid=0 | w=27
  5234. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in second half of the first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second half of the first decade of life | rel=r_associated | relid=0 | w=27
  5235. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in second to fifth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second to fifth decade | rel=r_associated | relid=0 | w=27
  5236. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in teens or young adulthood (range 13 to 45 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in teens or young adulthood (range 13 to 45 years) | rel=r_associated | relid=0 | w=27
  5237. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in the first decade (range birth to 8 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the first decade (range birth to 8 years) | rel=r_associated | relid=0 | w=27
  5238. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in the sixth or seventh decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the sixth or seventh decades | rel=r_associated | relid=0 | w=27
  5239. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in third or fourth decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in third or fourth decades | rel=r_associated | relid=0 | w=27
  5240. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset in utero or early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in utero or early infancy | rel=r_associated | relid=0 | w=27
  5241. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of acanthosis nigricans in childhood or by puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of acanthosis nigricans in childhood or by puberty | rel=r_associated | relid=0 | w=27
  5242. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of autoinflammation in infancy or first few years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of autoinflammation in infancy or first few years of life | rel=r_associated | relid=0 | w=27
  5243. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of calf hypotrophy may occur earlier
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of calf hypotrophy may occur earlier | rel=r_associated | relid=0 | w=27
  5244. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | rel=r_associated | relid=0 | w=27
  5245. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of deafness and diabetes in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of deafness and diabetes in adulthood | rel=r_associated | relid=0 | w=27
  5246. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of dementia in the thirties or forties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of dementia in the thirties or forties | rel=r_associated | relid=0 | w=27
  5247. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of disease within the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of disease within the first year of life | rel=r_associated | relid=0 | w=27
  5248. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of dystonia at 12 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of dystonia at 12 years | rel=r_associated | relid=0 | w=27
  5249. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of hearing loss in first or second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in first or second decade | rel=r_associated | relid=0 | w=27
  5250. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of hemolytic anemia shortly after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hemolytic anemia shortly after birth | rel=r_associated | relid=0 | w=27
  5251. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of illness often associated with acute infection
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of illness often associated with acute infection | rel=r_associated | relid=0 | w=27
  5252. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of macrocephaly in the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of macrocephaly in the first year of life | rel=r_associated | relid=0 | w=27
  5253. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of mental impairment in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of mental impairment in early childhood | rel=r_associated | relid=0 | w=27
  5254. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of osteoarthritis in teens to early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of osteoarthritis in teens to early adulthood | rel=r_associated | relid=0 | w=27
  5255. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of overgrowth in second to third month of life (in some cases)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of overgrowth in second to third month of life (in some cases) | rel=r_associated | relid=0 | w=27
  5256. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of parkinsonism in early twenties
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of parkinsonism in early twenties | rel=r_associated | relid=0 | w=27
  5257. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of progressive spastic paraplegia in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of progressive spastic paraplegia in childhood | rel=r_associated | relid=0 | w=27
  5258. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of skin lesions at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of skin lesions at birth | rel=r_associated | relid=0 | w=27
  5259. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of symptoms 2-6 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms 2-6 years of age | rel=r_associated | relid=0 | w=27
  5260. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset of visual loss in the first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of visual loss in the first decade | rel=r_associated | relid=0 | w=27
  5261. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | rel=r_associated | relid=0 | w=27
  5262. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset ranges from childhood to young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=27
  5263. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset soon after birth or within the first year of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset soon after birth or within the first year of life | rel=r_associated | relid=0 | w=27
  5264. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset usually in adulthood although childhood onset has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in adulthood although childhood onset has been reported | rel=r_associated | relid=0 | w=27
  5265. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset usually in childhood after bcg vaccination
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in childhood after bcg vaccination | rel=r_associated | relid=0 | w=27
  5266. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset within first 3 months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset within first 3 months of life | rel=r_associated | relid=0 | w=27
  5267. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:onset within the first decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset within the first decade of life | rel=r_associated | relid=0 | w=27
  5268. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype
    n1=en:one patient reported (last curated november 2012) | 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=27
  5269. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:pain most commonly affects the trunk, extremities, pelvic region, buttocks
    n1=en:one patient reported (last curated november 2012) | n2=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | rel=r_associated | relid=0 | w=27
  5270. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)
    n1=en:one patient reported (last curated november 2012) | n2=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | rel=r_associated | relid=0 | w=27
  5271. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:partial factor viii deficiency in heterozygous carriers
    n1=en:one patient reported (last curated november 2012) | n2=en:partial factor viii deficiency in heterozygous carriers | rel=r_associated | relid=0 | w=27
  5272. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:paternal age effect
    n1=en:one patient reported (last curated november 2012) | n2=en:paternal age effect | rel=r_associated | relid=0 | w=27
  5273. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:pathogenic alleles have 19 to 33 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:pathogenic alleles have 19 to 33 repeats | rel=r_associated | relid=0 | w=27
  5274. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable
    n1=en:one patient reported (last curated november 2012) | 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=27
  5275. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients between 30 and 60 years have discomfort with prolonged standing
    n1=en:one patient reported (last curated november 2012) | n2=en:patients between 30 and 60 years have discomfort with prolonged standing | rel=r_associated | relid=0 | w=27
  5276. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients develop multiple tumors
    n1=en:one patient reported (last curated november 2012) | n2=en:patients develop multiple tumors | rel=r_associated | relid=0 | w=27
  5277. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients from 4 unrelated families have been reported (as of october 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:patients from 4 unrelated families have been reported (as of october 2011) | rel=r_associated | relid=0 | w=27
  5278. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients from old order amish community and turkey have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:patients from old order amish community and turkey have been reported | rel=r_associated | relid=0 | w=27
  5279. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients have normal pituitary function
    n1=en:one patient reported (last curated november 2012) | n2=en:patients have normal pituitary function | rel=r_associated | relid=0 | w=27
  5280. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients may become wheelchair-bound after about 12 years
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may become wheelchair-bound after about 12 years | rel=r_associated | relid=0 | w=27
  5281. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients may or may not have dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may or may not have dysmorphic features | rel=r_associated | relid=0 | w=27
  5282. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients may present with recurrent illnesses or infections, or shock
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may present with recurrent illnesses or infections, or shock | rel=r_associated | relid=0 | w=27
  5283. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients require achilles tendon lengthening in first or second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:patients require achilles tendon lengthening in first or second decade of life | rel=r_associated | relid=0 | w=27
  5284. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients with contiguous gene deletion of 8q24 have more severe features
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with contiguous gene deletion of 8q24 have more severe features | rel=r_associated | relid=0 | w=27
  5285. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | rel=r_associated | relid=0 | w=27
  5286. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:pectus carinatum present in obligate carrier mothers
    n1=en:one patient reported (last curated november 2012) | n2=en:pectus carinatum present in obligate carrier mothers | rel=r_associated | relid=0 | w=27
  5287. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:percentages based on review of 51 published cases (pmid 24891339)
    n1=en:one patient reported (last curated november 2012) | n2=en:percentages based on review of 51 published cases (pmid 24891339) | rel=r_associated | relid=0 | w=27
  5288. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> 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:one patient reported (last curated november 2012) | 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=27
  5289. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:phenotypic heterogeneity
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic heterogeneity | rel=r_associated | relid=0 | w=27
  5290. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with currarino syndrome (176450)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with currarino syndrome (176450) | rel=r_associated | relid=0 | w=27
  5291. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | rel=r_associated | relid=0 | w=27
  5292. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | rel=r_associated | relid=0 | w=27
  5293. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:phenotypic variability within families and among patients carrying the same mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic variability within families and among patients carrying the same mutation | rel=r_associated | relid=0 | w=27
  5294. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:poor or no response to glucocorticoid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:poor or no response to glucocorticoid treatment | rel=r_associated | relid=0 | w=27
  5295. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:poor response to levodopa treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:poor response to levodopa treatment | rel=r_associated | relid=0 | w=27
  5296. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:poor response to the c5 inhibitor eculizumab
    n1=en:one patient reported (last curated november 2012) | n2=en:poor response to the c5 inhibitor eculizumab | rel=r_associated | relid=0 | w=27
  5297. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070
    n1=en:one patient reported (last curated november 2012) | n2=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | rel=r_associated | relid=0 | w=27
  5298. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:precipitated by general anesthesia
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitated by general anesthesia | rel=r_associated | relid=0 | w=27
  5299. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:preferably treated with iodine supplementation rather than thyroid hormone replacement
    n1=en:one patient reported (last curated november 2012) | n2=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | rel=r_associated | relid=0 | w=27
  5300. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:prevalence is estimated to be 1 in 1,100,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence is estimated to be 1 in 1,100,000 | rel=r_associated | relid=0 | w=27
  5301. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:prevalence of 2-7% in english-speaking preschool children
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 2-7% in english-speaking preschool children | rel=r_associated | relid=0 | w=27
  5302. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:prevalence of sleep terrors less than 1% in adults
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of sleep terrors less than 1% in adults | rel=r_associated | relid=0 | w=27
  5303. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:prevalence of sleepwalking up to 26% in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of sleepwalking up to 26% in childhood | rel=r_associated | relid=0 | w=27
  5304. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:prevalent in quebec
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in quebec | rel=r_associated | relid=0 | w=27
  5305. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:prognosis good
    n1=en:one patient reported (last curated november 2012) | n2=en:prognosis good | rel=r_associated | relid=0 | w=27
  5306. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:progresses to involve upper limbs
    n1=en:one patient reported (last curated november 2012) | n2=en:progresses to involve upper limbs | rel=r_associated | relid=0 | w=27
  5307. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:progression of the disorder is precipitated by viral symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:progression of the disorder is precipitated by viral symptoms | rel=r_associated | relid=0 | w=27
  5308. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:progressive disease is seen in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive disease is seen in some patients | rel=r_associated | relid=0 | w=27
  5309. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:progressive skeletal dysplasia
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive skeletal dysplasia | rel=r_associated | relid=0 | w=27
  5310. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:ptosis is usually presenting feature
    n1=en:one patient reported (last curated november 2012) | n2=en:ptosis is usually presenting feature | rel=r_associated | relid=0 | w=27
  5311. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:rapidly progressive disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:rapidly progressive disorder | rel=r_associated | relid=0 | w=27
  5312. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:rare adult cases reported
    n1=en:one patient reported (last curated november 2012) | n2=en:rare adult cases reported | rel=r_associated | relid=0 | w=27
  5313. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:rare spontaneous improvement occurs (8%)
    n1=en:one patient reported (last curated november 2012) | n2=en:rare spontaneous improvement occurs (8%) | rel=r_associated | relid=0 | w=27
  5314. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:recessive inheritance has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:recessive inheritance has been reported | rel=r_associated | relid=0 | w=27
  5315. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:recessive inheritance is rare
    n1=en:one patient reported (last curated november 2012) | n2=en:recessive inheritance is rare | rel=r_associated | relid=0 | w=27
  5316. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:recurrent episodes of liver failure during intercurrent infections
    n1=en:one patient reported (last curated november 2012) | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=27
  5317. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:reduced longevity
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced longevity | rel=r_associated | relid=0 | w=27
  5318. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=27
  5319. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:renal anomalies are not always present
    n1=en:one patient reported (last curated november 2012) | n2=en:renal anomalies are not always present | rel=r_associated | relid=0 | w=27
  5320. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:reported in 2 sibs (february 1991)
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in 2 sibs (february 1991) | rel=r_associated | relid=0 | w=27
  5321. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:resource identifier:uri:pt:study:nom
    n1=en:one patient reported (last curated november 2012) | n2=en:resource identifier:uri:pt:study:nom | rel=r_associated | relid=0 | w=27
  5322. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:results in severe motor disability and loss of independent ambulation
    n1=en:one patient reported (last curated november 2012) | n2=en:results in severe motor disability and loss of independent ambulation | rel=r_associated | relid=0 | w=27
  5323. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:retinal arteriolar tortuosity develops in adolescence and is progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:retinal arteriolar tortuosity develops in adolescence and is progressive | rel=r_associated | relid=0 | w=27
  5324. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens
    n1=en:one patient reported (last curated november 2012) | n2=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | rel=r_associated | relid=0 | w=27
  5325. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:sando (607459) is a phenotypic variant of autosomal recessive peo
    n1=en:one patient reported (last curated november 2012) | n2=en:sando (607459) is a phenotypic variant of autosomal recessive peo | rel=r_associated | relid=0 | w=27
  5326. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:seasonal variation in severity of skin symptoms reported by some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:seasonal variation in severity of skin symptoms reported by some patients | rel=r_associated | relid=0 | w=27
  5327. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also a childhood-onset form (114100)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also a childhood-onset form (114100) | rel=r_associated | relid=0 | w=27
  5328. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also autosomal dominant form (176860)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant form (176860) | rel=r_associated | relid=0 | w=27
  5329. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also autosomal dominant hypophosphatemic rickets (193100)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant hypophosphatemic rickets (193100) | rel=r_associated | relid=0 | w=27
  5330. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also autosomal dominant lutheran-null phenotype (111150)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant lutheran-null phenotype (111150) | rel=r_associated | relid=0 | w=27
  5331. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities
    n1=en:one patient reported (last curated november 2012) | n2=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | rel=r_associated | relid=0 | w=27
  5332. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also cblc (277400)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also cblc (277400) | rel=r_associated | relid=0 | w=27
  5333. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also dyssegmental dysplasia, silverman-handmaker type (224410)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | rel=r_associated | relid=0 | w=27
  5334. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also french-canadian type of leigh syndrome (220111)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also french-canadian type of leigh syndrome (220111) | rel=r_associated | relid=0 | w=27
  5335. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> 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:one patient reported (last curated november 2012) | 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=27
  5336. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also junctional eb with pyloric atresia (226730)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also junctional eb with pyloric atresia (226730) | rel=r_associated | relid=0 | w=27
  5337. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also leptin deficiency (614962) and summary information in bmiq1 (606641)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | rel=r_associated | relid=0 | w=27
  5338. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features
    n1=en:one patient reported (last curated november 2012) | n2=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=27
  5339. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also pfm3 on chromosome 4q21-q23 (609566)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also pfm3 on chromosome 4q21-q23 (609566) | rel=r_associated | relid=0 | w=27
  5340. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see also recessive deb (226600), an allelic disorder with a more severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=27
  5341. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:see the more common methemoglobinemia types i and ii (250800)
    n1=en:one patient reported (last curated november 2012) | n2=en:see the more common methemoglobinemia types i and ii (250800) | rel=r_associated | relid=0 | w=27
  5342. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:seizure onset at a mean of 14 months (range 6 to 36 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:seizure onset at a mean of 14 months (range 6 to 36 months) | rel=r_associated | relid=0 | w=27
  5343. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:seizures may be refractory to treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may be refractory to treatment | rel=r_associated | relid=0 | w=27
  5344. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | rel=r_associated | relid=0 | w=27
  5345. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:seizures occur upon awakening
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures occur upon awakening | rel=r_associated | relid=0 | w=27
  5346. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:seizures remit by age 5 years
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures remit by age 5 years | rel=r_associated | relid=0 | w=27
  5347. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:seizures tend to occur upon awakening
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures tend to occur upon awakening | rel=r_associated | relid=0 | w=27
  5348. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=27
  5349. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=27
  5350. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=27
  5351. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=27
  5352. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=27
  5353. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5354. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=27
  5355. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=27
  5356. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  5357. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:severe heat intolerance
    n1=en:one patient reported (last curated november 2012) | n2=en:severe heat intolerance | rel=r_associated | relid=0 | w=27
  5358. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:severe infantile form presents before 6 months
    n1=en:one patient reported (last curated november 2012) | n2=en:severe infantile form presents before 6 months | rel=r_associated | relid=0 | w=27
  5359. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:severe phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:severe phenotype | rel=r_associated | relid=0 | w=27
  5360. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:sex ratio - 2 females to 1 male
    n1=en:one patient reported (last curated november 2012) | n2=en:sex ratio - 2 females to 1 male | rel=r_associated | relid=0 | w=27
  5361. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:significant number of patients are stillborn or die in neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:significant number of patients are stillborn or die in neonatal period | rel=r_associated | relid=0 | w=27
  5362. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:six patients from 4 families have been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:six patients from 4 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=27
  5363. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:six patients have been reported (5/18/2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:six patients have been reported (5/18/2011) | rel=r_associated | relid=0 | w=27
  5364. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:skin and hair abnormalities apparent at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:skin and hair abnormalities apparent at birth | rel=r_associated | relid=0 | w=27
  5365. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:skin lesion appear shortly after birth and tend to disappear in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | rel=r_associated | relid=0 | w=27
  5366. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:skin lesions tend to occur on distal extremities or at elbows and knees
    n1=en:one patient reported (last curated november 2012) | n2=en:skin lesions tend to occur on distal extremities or at elbows and knees | rel=r_associated | relid=0 | w=27
  5367. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:skin manifestation less frequently observed in cold climates
    n1=en:one patient reported (last curated november 2012) | n2=en:skin manifestation less frequently observed in cold climates | rel=r_associated | relid=0 | w=27
  5368. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:slowly progressive or nonprogressive course
    n1=en:one patient reported (last curated november 2012) | n2=en:slowly progressive or nonprogressive course | rel=r_associated | relid=0 | w=27
  5369. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:solitary disease is more common in males
    n1=en:one patient reported (last curated november 2012) | n2=en:solitary disease is more common in males | rel=r_associated | relid=0 | w=27
  5370. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:somatic or germline mosaicism may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:somatic or germline mosaicism may occur | rel=r_associated | relid=0 | w=27
  5371. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some affected family members are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:some affected family members are asymptomatic | rel=r_associated | relid=0 | w=27
  5372. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some features are variable, even within families
    n1=en:one patient reported (last curated november 2012) | n2=en:some features are variable, even within families | rel=r_associated | relid=0 | w=27
  5373. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some female carriers are more mildly affected
    n1=en:one patient reported (last curated november 2012) | n2=en:some female carriers are more mildly affected | rel=r_associated | relid=0 | w=27
  5374. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients do not show neurologic abnormalities or dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients do not show neurologic abnormalities or dysmorphic features | rel=r_associated | relid=0 | w=27
  5375. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients have a severe phenotype with neurologic manifestations beginning at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | rel=r_associated | relid=0 | w=27
  5376. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients have milder persistent blistering
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have milder persistent blistering | rel=r_associated | relid=0 | w=27
  5377. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients may become wheelchair-bound
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may become wheelchair-bound | rel=r_associated | relid=0 | w=27
  5378. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients may have a milder phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have a milder phenotype | rel=r_associated | relid=0 | w=27
  5379. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients may have normal psychomotor development
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have normal psychomotor development | rel=r_associated | relid=0 | w=27
  5380. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients may show mild decrease in head circumference over time
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may show mild decrease in head circumference over time | rel=r_associated | relid=0 | w=27
  5381. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients may show normal early development before seizure onset
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=27
  5382. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some patients require cardiac transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients require cardiac transplantation | rel=r_associated | relid=0 | w=27
  5383. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:some phenotypic overlap with rett syndrome (312750)
    n1=en:one patient reported (last curated november 2012) | n2=en:some phenotypic overlap with rett syndrome (312750) | rel=r_associated | relid=0 | w=27
  5384. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:sporadic occurrence is associated with advanced paternal age
    n1=en:one patient reported (last curated november 2012) | n2=en:sporadic occurrence is associated with advanced paternal age | rel=r_associated | relid=0 | w=27
  5385. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:stage iii, pseudostationary period (onset 2-10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:stage iii, pseudostationary period (onset 2-10 years) | rel=r_associated | relid=0 | w=27
  5386. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:stage iv, late motor deterioration (when ambulation ceases)
    n1=en:one patient reported (last curated november 2012) | n2=en:stage iv, late motor deterioration (when ambulation ceases) | rel=r_associated | relid=0 | w=27
  5387. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:static or slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:static or slowly progressive | rel=r_associated | relid=0 | w=27
  5388. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:stillborn or lethal in the neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:stillborn or lethal in the neonatal period | rel=r_associated | relid=0 | w=27
  5389. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:sudden death due to cardiac arrhythmia may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death due to cardiac arrhythmia may occur | rel=r_associated | relid=0 | w=27
  5390. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:sudden death in affected females occurs in the forties
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death in affected females occurs in the forties | rel=r_associated | relid=0 | w=27
  5391. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:survival to 20 years in severe form
    n1=en:one patient reported (last curated november 2012) | n2=en:survival to 20 years in severe form | rel=r_associated | relid=0 | w=27
  5392. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:surviving infants develop severe nonbullous ichthyosiform erythroderma
    n1=en:one patient reported (last curated november 2012) | n2=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | rel=r_associated | relid=0 | w=27
  5393. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | rel=r_associated | relid=0 | w=27
  5394. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:symptoms are often responsive to alcohol
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms are often responsive to alcohol | rel=r_associated | relid=0 | w=27
  5395. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:symptoms begin focally, later segmental or generalized
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms begin focally, later segmental or generalized | rel=r_associated | relid=0 | w=27
  5396. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:symptoms benefit from sleep
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms benefit from sleep | rel=r_associated | relid=0 | w=27
  5397. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis
    n1=en:one patient reported (last curated november 2012) | 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=27
  5398. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:symptoms precipitated by stress, exertion, fatigue, alcohol
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by stress, exertion, fatigue, alcohol | rel=r_associated | relid=0 | w=27
  5399. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:symptoms relieved by serotonin antagonist (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms relieved by serotonin antagonist (in some patients) | rel=r_associated | relid=0 | w=27
  5400. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists
    n1=en:one patient reported (last curated november 2012) | n2=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | rel=r_associated | relid=0 | w=27
  5401. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:therapy is placement of implantable cardioverter defibrillator (icd)
    n1=en:one patient reported (last curated november 2012) | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=27
  5402. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:therapy-induced dyskinesias
    n1=en:one patient reported (last curated november 2012) | n2=en:therapy-induced dyskinesias | rel=r_associated | relid=0 | w=27
  5403. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:thin, fine hair described in few individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:thin, fine hair described in few individuals | rel=r_associated | relid=0 | w=27
  5404. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three amish patients have been reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:three amish patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=27
  5405. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three families have been reported (as of 28 june 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (as of 28 june 2011) | rel=r_associated | relid=0 | w=27
  5406. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three families have been reported (as of september 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:three families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=27
  5407. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three major clinical forms are apparent
    n1=en:one patient reported (last curated november 2012) | n2=en:three major clinical forms are apparent | rel=r_associated | relid=0 | w=27
  5408. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three patients (2 related) reported (last curated march 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients (2 related) reported (last curated march 2013) | rel=r_associated | relid=0 | w=27
  5409. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three patients have been reported (as of october 2009)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients have been reported (as of october 2009) | rel=r_associated | relid=0 | w=27
  5410. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)
    n1=en:one patient reported (last curated november 2012) | 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=27
  5411. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three unrelated patients have been reported (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=27
  5412. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three unrelated patients have been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=27
  5413. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:three unrelated patients have been reported (last curated may 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=27
  5414. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:toe-walking gait
    n1=en:one patient reported (last curated november 2012) | n2=en:toe-walking gait | rel=r_associated | relid=0 | w=27
  5415. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides
    n1=en:one patient reported (last curated november 2012) | n2=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | rel=r_associated | relid=0 | w=27
  5416. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | rel=r_associated | relid=0 | w=27
  5417. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:treatment with riboflavin has been helpful in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with riboflavin has been helpful in some patients | rel=r_associated | relid=0 | w=27
  5418. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:treatment with sulfonylurea can be effective
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=27
  5419. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:tumors are microsatellite stable
    n1=en:one patient reported (last curated november 2012) | n2=en:tumors are microsatellite stable | rel=r_associated | relid=0 | w=27
  5420. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:tumors may show spontaneous regression
    n1=en:one patient reported (last curated november 2012) | n2=en:tumors may show spontaneous regression | rel=r_associated | relid=0 | w=27
  5421. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two families have been reported (last curated april 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=27
  5422. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two main phenotypes, metabolic and neurologic
    n1=en:one patient reported (last curated november 2012) | n2=en:two main phenotypes, metabolic and neurologic | rel=r_associated | relid=0 | w=27
  5423. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two of 6 patients became wheelchair-bound by age 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:two of 6 patients became wheelchair-bound by age 20 years | rel=r_associated | relid=0 | w=27
  5424. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two patients reported (last curated may 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients reported (last curated may 2013) | rel=r_associated | relid=0 | w=27
  5425. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated boys have been reported (last curated october 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated boys have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=27
  5426. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=27
  5427. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated may 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=27
  5428. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  5429. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated december 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=27
  5430. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=27
  5431. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | rel=r_associated | relid=0 | w=27
  5432. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated october 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=27
  5433. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  5434. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | rel=r_associated | relid=0 | w=27
  5435. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles
    n1=en:one patient reported (last curated november 2012) | n2=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | rel=r_associated | relid=0 | w=27
  5436. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:type iia tends to have more severe phenotype with earlier onset
    n1=en:one patient reported (last curated november 2012) | n2=en:type iia tends to have more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=27
  5437. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:type iii is intermediate form
    n1=en:one patient reported (last curated november 2012) | n2=en:type iii is intermediate form | rel=r_associated | relid=0 | w=27
  5438. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:type iiia has both liver and muscle involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:type iiia has both liver and muscle involvement | rel=r_associated | relid=0 | w=27
  5439. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:urine turns dark on standing and alkalinization
    n1=en:one patient reported (last curated november 2012) | n2=en:urine turns dark on standing and alkalinization | rel=r_associated | relid=0 | w=27
  5440. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:usual onset before age 6 years and death by age 20
    n1=en:one patient reported (last curated november 2012) | n2=en:usual onset before age 6 years and death by age 20 | rel=r_associated | relid=0 | w=27
  5441. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs
    n1=en:one patient reported (last curated november 2012) | n2=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | rel=r_associated | relid=0 | w=27
  5442. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:usually fatal within the first few weeks of life
    n1=en:one patient reported (last curated november 2012) | n2=en:usually fatal within the first few weeks of life | rel=r_associated | relid=0 | w=27
  5443. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:usually presents in third to fourth decade (but onset can range from childhood to elderly)
    n1=en:one patient reported (last curated november 2012) | n2=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | rel=r_associated | relid=0 | w=27
  5444. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:usually sporadic
    n1=en:one patient reported (last curated november 2012) | n2=en:usually sporadic | rel=r_associated | relid=0 | w=27
  5445. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:usually sporadic, but 1-2% of cases are familial
    n1=en:one patient reported (last curated november 2012) | n2=en:usually sporadic, but 1-2% of cases are familial | rel=r_associated | relid=0 | w=27
  5446. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual
    n1=en:one patient reported (last curated november 2012) | n2=en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual | rel=r_associated | relid=0 | w=27
  5447. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (8 to 62 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (8 to 62 years) | rel=r_associated | relid=0 | w=27
  5448. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range childhood to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range childhood to adult) | rel=r_associated | relid=0 | w=27
  5449. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable age at onset from childhood to adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset from childhood to adulthood | rel=r_associated | relid=0 | w=27
  5450. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable age at onset, from birth to ninth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, from birth to ninth decade | rel=r_associated | relid=0 | w=27
  5451. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable age at onset, ranging from childhood to adult
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, ranging from childhood to adult | rel=r_associated | relid=0 | w=27
  5452. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable clinical presentation ranging from acute onset to normal adult
    n1=en:one patient reported (last curated november 2012) | n2=en:variable clinical presentation ranging from acute onset to normal adult | rel=r_associated | relid=0 | w=27
  5453. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable dysmorphic features | rel=r_associated | relid=0 | w=27
  5454. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=27
  5455. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable expressivity
    n1=en:one patient reported (last curated november 2012) | n2=en:variable expressivity | rel=r_associated | relid=0 | w=27
  5456. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable facial dysmorphic features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable facial dysmorphic features | rel=r_associated | relid=0 | w=27
  5457. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable features | rel=r_associated | relid=0 | w=27
  5458. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable frequency (daily to monthly)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable frequency (daily to monthly) | rel=r_associated | relid=0 | w=27
  5459. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:variable penetrance | rel=r_associated | relid=0 | w=27
  5460. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable phenotype, some patients have very mild symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:variable phenotype, some patients have very mild symptoms | rel=r_associated | relid=0 | w=27
  5461. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable severity (in patients with hsan2d)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity (in patients with hsan2d) | rel=r_associated | relid=0 | w=27
  5462. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:variable severity, some patients have a protracted course with little neurologic involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity, some patients have a protracted course with little neurologic involvement | rel=r_associated | relid=0 | w=27
  5463. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:visual field and color defects invariably present only in patients with advanced loss of vision
    n1=en:one patient reported (last curated november 2012) | n2=en:visual field and color defects invariably present only in patients with advanced loss of vision | rel=r_associated | relid=0 | w=27
  5464. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:wide range of severity between affected members of the same family
    n1=en:one patient reported (last curated november 2012) | n2=en:wide range of severity between affected members of the same family | rel=r_associated | relid=0 | w=27
  5465. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:women may be mildly affected
    n1=en:one patient reported (last curated november 2012) | n2=en:women may be mildly affected | rel=r_associated | relid=0 | w=27
  5466. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:x-linked recessive cytochrome b-negative cgd
    n1=en:one patient reported (last curated november 2012) | n2=en:x-linked recessive cytochrome b-negative cgd | rel=r_associated | relid=0 | w=27
  5467. en:one patient reported (last curated november 2012) -- r_associated #0: 27 / 0.628 -> en:young adult onset (range 13 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:young adult onset (range 13 to 50 years) | rel=r_associated | relid=0 | w=27
  5468. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:'shoulder' pattern of temperature-dependent potassium flux (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=26
  5469. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl
    n1=en:one patient reported (last curated november 2012) | n2=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | rel=r_associated | relid=0 | w=26
  5470. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:(4) thiamine-responsive form
    n1=en:one patient reported (last curated november 2012) | n2=en:(4) thiamine-responsive form | rel=r_associated | relid=0 | w=26
  5471. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide
    n1=en:one patient reported (last curated november 2012) | n2=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | rel=r_associated | relid=0 | w=26
  5472. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age
    n1=en:one patient reported (last curated november 2012) | n2=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | rel=r_associated | relid=0 | w=26
  5473. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:12% due to epimutation
    n1=en:one patient reported (last curated november 2012) | n2=en:12% due to epimutation | rel=r_associated | relid=0 | w=26
  5474. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:2% due to paternal uniparental disomy of 15q11.2-q13
    n1=en:one patient reported (last curated november 2012) | n2=en:2% due to paternal uniparental disomy of 15q11.2-q13 | rel=r_associated | relid=0 | w=26
  5475. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)
    n1=en:one patient reported (last curated november 2012) | n2=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | rel=r_associated | relid=0 | w=26
  5476. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:7 unrelated patients have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:7 unrelated patients have been reported | rel=r_associated | relid=0 | w=26
  5477. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:98% of finnish cases due to one mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:98% of finnish cases due to one mutation | rel=r_associated | relid=0 | w=26
  5478. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:a nonspecific marker of somatic mosaicism
    n1=en:one patient reported (last curated november 2012) | n2=en:a nonspecific marker of somatic mosaicism | rel=r_associated | relid=0 | w=26
  5479. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:a severe infantile variant has been rarely reported
    n1=en:one patient reported (last curated november 2012) | n2=en:a severe infantile variant has been rarely reported | rel=r_associated | relid=0 | w=26
  5480. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:a subgroup of patients with sponastrime dysplasia have severe mental retardation
    n1=en:one patient reported (last curated november 2012) | n2=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | rel=r_associated | relid=0 | w=26
  5481. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
    n1=en:one patient reported (last curated november 2012) | n2=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | rel=r_associated | relid=0 | w=26
  5482. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:about 15% of female carriers develop renal insufficiency in the second or third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:about 15% of female carriers develop renal insufficiency in the second or third decade | rel=r_associated | relid=0 | w=26
  5483. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:about half of individuals are asymptomatic and identified by newborn screening programs
    n1=en:one patient reported (last curated november 2012) | n2=en:about half of individuals are asymptomatic and identified by newborn screening programs | rel=r_associated | relid=0 | w=26
  5484. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:acute encephalopathic episodes may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:acute encephalopathic episodes may occur | rel=r_associated | relid=0 | w=26
  5485. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:acute neurologic deterioration after viral illness has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:acute neurologic deterioration after viral illness has been reported | rel=r_associated | relid=0 | w=26
  5486. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:adams-stokes syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:adams-stokes syndrome | rel=r_associated | relid=0 | w=26
  5487. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:additional features are variably present
    n1=en:one patient reported (last curated november 2012) | n2=en:additional features are variably present | rel=r_associated | relid=0 | w=26
  5488. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:adult onset (18 to 60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (18 to 60 years) | rel=r_associated | relid=0 | w=26
  5489. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:adult onset (20 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=26
  5490. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:adult onset (mean 60 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset (mean 60 years) | rel=r_associated | relid=0 | w=26
  5491. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:adult onset of symptoms has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:adult onset of symptoms has been reported | rel=r_associated | relid=0 | w=26
  5492. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows
    n1=en:one patient reported (last curated november 2012) | n2=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | rel=r_associated | relid=0 | w=26
  5493. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:affects up to 10% of the population
    n1=en:one patient reported (last curated november 2012) | n2=en:affects up to 10% of the population | rel=r_associated | relid=0 | w=26
  5494. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:age at death:time:point in time:^patient:quantitative
    n1=en:one patient reported (last curated november 2012) | n2=en:age at death:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=26
  5495. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:age at onset ranges from first to sixth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:age at onset ranges from first to sixth decade | rel=r_associated | relid=0 | w=26
  5496. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:age of onset 20-65 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 20-65 years | rel=r_associated | relid=0 | w=26
  5497. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:age of onset 30 to 60 years
    n1=en:one patient reported (last curated november 2012) | n2=en:age of onset 30 to 60 years | rel=r_associated | relid=0 | w=26
  5498. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:age:time:pt:^patient:qn:estimated
    n1=en:one patient reported (last curated november 2012) | n2=en:age:time:pt:^patient:qn:estimated | rel=r_associated | relid=0 | w=26
  5499. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:aggressive malignancies
    n1=en:one patient reported (last curated november 2012) | n2=en:aggressive malignancies | rel=r_associated | relid=0 | w=26
  5500. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:all cases presumed de novo mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:all cases presumed de novo mutation | rel=r_associated | relid=0 | w=26
  5501. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition
    n1=en:one patient reported (last curated november 2012) | n2=en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition | rel=r_associated | relid=0 | w=26
  5502. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:all reported cases result from de novo mutation (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:all reported cases result from de novo mutation (last curated july 2014) | rel=r_associated | relid=0 | w=26
  5503. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> 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:one patient reported (last curated november 2012) | 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=26
  5504. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=26
  5505. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to autosomal recessive form (224900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to autosomal recessive form (224900) | rel=r_associated | relid=0 | w=26
  5506. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to benign hereditary chorea (118700), which is less severe
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=26
  5507. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=26
  5508. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | rel=r_associated | relid=0 | w=26
  5509. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | rel=r_associated | relid=0 | w=26
  5510. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | rel=r_associated | relid=0 | w=26
  5511. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to juvenile nephronophthisis-1 (256100)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to juvenile nephronophthisis-1 (256100) | rel=r_associated | relid=0 | w=26
  5512. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | rel=r_associated | relid=0 | w=26
  5513. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to limb-mammary syndrome (lms, 603543)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to limb-mammary syndrome (lms, 603543) | rel=r_associated | relid=0 | w=26
  5514. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | rel=r_associated | relid=0 | w=26
  5515. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | rel=r_associated | relid=0 | w=26
  5516. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | rel=r_associated | relid=0 | w=26
  5517. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to acrokeratosis verruciformis (101900)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to acrokeratosis verruciformis (101900) | rel=r_associated | relid=0 | w=26
  5518. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to aicardi-goutieres syndrome (225750)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to aicardi-goutieres syndrome (225750) | rel=r_associated | relid=0 | w=26
  5519. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)
    n1=en:one patient reported (last curated november 2012) | 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=26
  5520. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | rel=r_associated | relid=0 | w=26
  5521. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | rel=r_associated | relid=0 | w=26
  5522. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to infantile sialic acid storage disorder (269920)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to infantile sialic acid storage disorder (269920) | rel=r_associated | relid=0 | w=26
  5523. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to kenny-caffey syndrome type 1 (244460)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to kenny-caffey syndrome type 1 (244460) | rel=r_associated | relid=0 | w=26
  5524. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=26
  5525. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to multiple pterygium syndrome, lethal type (253290)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to multiple pterygium syndrome, lethal type (253290) | rel=r_associated | relid=0 | w=26
  5526. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570)
    n1=en:one patient reported (last curated november 2012) | 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=26
  5527. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)
    n1=en:one patient reported (last curated november 2012) | 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=26
  5528. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)
    n1=en:one patient reported (last curated november 2012) | n2=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | rel=r_associated | relid=0 | w=26
  5529. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:alpha-l-iduronidase activity is <1% for all forms of mps1
    n1=en:one patient reported (last curated november 2012) | n2=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | rel=r_associated | relid=0 | w=26
  5530. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:amelioration with age
    n1=en:one patient reported (last curated november 2012) | n2=en:amelioration with age | rel=r_associated | relid=0 | w=26
  5531. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:anemia may show favorable response to alpha-interferon treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:anemia may show favorable response to alpha-interferon treatment | rel=r_associated | relid=0 | w=26
  5532. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:arteriovenous malformations can occur throughout the body
    n1=en:one patient reported (last curated november 2012) | n2=en:arteriovenous malformations can occur throughout the body | rel=r_associated | relid=0 | w=26
  5533. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:associated with a balanced translocation t(12,22)(p11.2,q13.3)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | rel=r_associated | relid=0 | w=26
  5534. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:associated with fragile x syndrome (309550)
    n1=en:one patient reported (last curated november 2012) | n2=en:associated with fragile x syndrome (309550) | rel=r_associated | relid=0 | w=26
  5535. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.
    n1=en:one patient reported (last curated november 2012) | 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=26
  5536. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | rel=r_associated | relid=0 | w=26
  5537. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  5538. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:attacks typically last for minutes
    n1=en:one patient reported (last curated november 2012) | n2=en:attacks typically last for minutes | rel=r_associated | relid=0 | w=26
  5539. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autoimmune manifestations are present in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:autoimmune manifestations are present in some patients | rel=r_associated | relid=0 | w=26
  5540. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autosomal dominant inheritance has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=26
  5541. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autosomal dominant transmission has been rarely reported
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal dominant transmission has been rarely reported | rel=r_associated | relid=0 | w=26
  5542. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive cases have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive cases have been reported | rel=r_associated | relid=0 | w=26
  5543. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive cytochrome b-positive cgd, type ii (233710)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | rel=r_associated | relid=0 | w=26
  5544. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive inheritance (245600) has also been suggested
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance (245600) has also been suggested | rel=r_associated | relid=0 | w=26
  5545. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive inheritance has also been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has also been reported | rel=r_associated | relid=0 | w=26
  5546. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | rel=r_associated | relid=0 | w=26
  5547. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:average age at onset 18 years (range 15 to 25 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:average age at onset 18 years (range 15 to 25 years) | rel=r_associated | relid=0 | w=26
  5548. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:average age of onset 57 years
    n1=en:one patient reported (last curated november 2012) | n2=en:average age of onset 57 years | rel=r_associated | relid=0 | w=26
  5549. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:basal cell neoplasms develop after second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:basal cell neoplasms develop after second decade | rel=r_associated | relid=0 | w=26
  5550. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on 2 patients with p4hb mutations (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on 2 patients with p4hb mutations (last curated april 2015) | rel=r_associated | relid=0 | w=26
  5551. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on one jordanian family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=26
  5552. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on one large north american family (last curated august 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on one large north american family (last curated august 2015) | rel=r_associated | relid=0 | w=26
  5553. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on report of 1 family (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 family (last curated december 2015) | rel=r_associated | relid=0 | w=26
  5554. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on report of 1 family (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 1 family (last curated january 2014) | rel=r_associated | relid=0 | w=26
  5555. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on report of 2 consanguineous arab families (last curated november 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 consanguineous arab families (last curated november 2014) | rel=r_associated | relid=0 | w=26
  5556. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on report of 2 consanguineous pakistani families (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | rel=r_associated | relid=0 | w=26
  5557. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on report of 2 families (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 2 families (last curated january 2014) | rel=r_associated | relid=0 | w=26
  5558. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:based on report of 3 unrelated children (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:based on report of 3 unrelated children (last curated january 2016) | rel=r_associated | relid=0 | w=26
  5559. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:benign trait
    n1=en:one patient reported (last curated november 2012) | n2=en:benign trait | rel=r_associated | relid=0 | w=26
  5560. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:between 2 and 7% of children will develop afebrile seizure disorders later in life
    n1=en:one patient reported (last curated november 2012) | n2=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | rel=r_associated | relid=0 | w=26
  5561. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:blistering and erosions tend to occur on extensor surfaces or over bony prominences
    n1=en:one patient reported (last curated november 2012) | n2=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | rel=r_associated | relid=0 | w=26
  5562. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:broad-based gait
    n1=en:one patient reported (last curated november 2012) | n2=en:broad-based gait | rel=r_associated | relid=0 | w=26
  5563. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:can be treated by bone marrow transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:can be treated by bone marrow transplantation | rel=r_associated | relid=0 | w=26
  5564. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  5565. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures
    n1=en:one patient reported (last curated november 2012) | 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=26
  5566. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:carrier females may have mild intellectual disability
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=26
  5567. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | rel=r_associated | relid=0 | w=26
  5568. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:carrier frequency in finland is 1 in 230
    n1=en:one patient reported (last curated november 2012) | n2=en:carrier frequency in finland is 1 in 230 | rel=r_associated | relid=0 | w=26
  5569. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:cataracts variably present at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:cataracts variably present at birth | rel=r_associated | relid=0 | w=26
  5570. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  5571. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:cerebellar ataxia shows onset in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:cerebellar ataxia shows onset in young adulthood | rel=r_associated | relid=0 | w=26
  5572. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=26
  5573. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:chromosome rearrangements have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:chromosome rearrangements have been reported | rel=r_associated | relid=0 | w=26
  5574. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:chronic, relapsing condition
    n1=en:one patient reported (last curated november 2012) | n2=en:chronic, relapsing condition | rel=r_associated | relid=0 | w=26
  5575. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:clinical overlap with dejerine-sottas syndrome (dss, 145900)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=26
  5576. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> 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:one patient reported (last curated november 2012) | 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=26
  5577. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:clinically classified into classic, atypical, and intermediate phenotypes
    n1=en:one patient reported (last curated november 2012) | n2=en:clinically classified into classic, atypical, and intermediate phenotypes | rel=r_associated | relid=0 | w=26
  5578. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:clinically mimics congenital torch infections (see 251290)
    n1=en:one patient reported (last curated november 2012) | n2=en:clinically mimics congenital torch infections (see 251290) | rel=r_associated | relid=0 | w=26
  5579. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
    n1=en:one patient reported (last curated november 2012) | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=26
  5580. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:codominant inheritance has been suggested
    n1=en:one patient reported (last curated november 2012) | n2=en:codominant inheritance has been suggested | rel=r_associated | relid=0 | w=26
  5581. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:colchicine treatment is not effective
    n1=en:one patient reported (last curated november 2012) | n2=en:colchicine treatment is not effective | rel=r_associated | relid=0 | w=26
  5582. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)
    n1=en:one patient reported (last curated november 2012) | n2=en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) | rel=r_associated | relid=0 | w=26
  5583. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:complementation group c (variant mliii, 252605)
    n1=en:one patient reported (last curated november 2012) | n2=en:complementation group c (variant mliii, 252605) | rel=r_associated | relid=0 | w=26
  5584. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:conduction defect is progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:conduction defect is progressive | rel=r_associated | relid=0 | w=26
  5585. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty
    n1=en:one patient reported (last curated november 2012) | n2=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | rel=r_associated | relid=0 | w=26
  5586. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:congenital linear skin defects may disappear within a few months of life
    n1=en:one patient reported (last curated november 2012) | n2=en:congenital linear skin defects may disappear within a few months of life | rel=r_associated | relid=0 | w=26
  5587. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:considered a normal variant
    n1=en:one patient reported (last curated november 2012) | n2=en:considered a normal variant | rel=r_associated | relid=0 | w=26
  5588. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:considered to be a severe form of gaucher disease type ii (230900)
    n1=en:one patient reported (last curated november 2012) | n2=en:considered to be a severe form of gaucher disease type ii (230900) | rel=r_associated | relid=0 | w=26
  5589. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:contiguous gene deletion syndrome (in most patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:contiguous gene deletion syndrome (in most patients) | rel=r_associated | relid=0 | w=26
  5590. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:contiguous gene duplication syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:contiguous gene duplication syndrome | rel=r_associated | relid=0 | w=26
  5591. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:corneal steepening is proportional to the degree of axial foreshortening
    n1=en:one patient reported (last curated november 2012) | n2=en:corneal steepening is proportional to the degree of axial foreshortening | rel=r_associated | relid=0 | w=26
  5592. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:cyp2d6 represents about 1% of total liver cytochrome p450 content
    n1=en:one patient reported (last curated november 2012) | n2=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | rel=r_associated | relid=0 | w=26
  5593. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:date ultrasound:date:pt:^patient:qn
    n1=en:one patient reported (last curated november 2012) | n2=en:date ultrasound:date:pt:^patient:qn | rel=r_associated | relid=0 | w=26
  5594. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:de novo mutation (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:de novo mutation (in some patients) | rel=r_associated | relid=0 | w=26
  5595. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:deafness tends to occur before other neurologic signs, except in patients with very early onset
    n1=en:one patient reported (last curated november 2012) | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=26
  5596. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:death before age 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death before age 3 years | rel=r_associated | relid=0 | w=26
  5597. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:death in infancy secondary to pulmonary insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:death in infancy secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=26
  5598. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:death often by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:death often by age 2 years | rel=r_associated | relid=0 | w=26
  5599. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:death secondary to respiratory infection or failure
    n1=en:one patient reported (last curated november 2012) | n2=en:death secondary to respiratory infection or failure | rel=r_associated | relid=0 | w=26
  5600. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:death usually in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually in infancy | rel=r_associated | relid=0 | w=26
  5601. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:death usually occurs in early infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:death usually occurs in early infancy | rel=r_associated | relid=0 | w=26
  5602. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:death within first year of life in 25%
    n1=en:one patient reported (last curated november 2012) | n2=en:death within first year of life in 25% | rel=r_associated | relid=0 | w=26
  5603. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
    n1=en:one patient reported (last curated november 2012) | n2=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | rel=r_associated | relid=0 | w=26
  5604. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:deletions in naip gene (600355) found in 18% of smaii patients
    n1=en:one patient reported (last curated november 2012) | n2=en:deletions in naip gene (600355) found in 18% of smaii patients | rel=r_associated | relid=0 | w=26
  5605. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:deletions occur de novo
    n1=en:one patient reported (last curated november 2012) | n2=en:deletions occur de novo | rel=r_associated | relid=0 | w=26
  5606. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:diagnosis in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis in early childhood | rel=r_associated | relid=0 | w=26
  5607. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:diagnosis in the second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:diagnosis in the second decade of life | rel=r_associated | relid=0 | w=26
  5608. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:difficulty walking
    n1=en:one patient reported (last curated november 2012) | n2=en:difficulty walking | rel=r_associated | relid=0 | w=26
  5609. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:disorder usually remains stable over time
    n1=en:one patient reported (last curated november 2012) | n2=en:disorder usually remains stable over time | rel=r_associated | relid=0 | w=26
  5610. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:distinct disorder from familial erythrocytosis (ecyt1, 133100)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | rel=r_associated | relid=0 | w=26
  5611. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:distinct disorder from galactosemia (230400)
    n1=en:one patient reported (last curated november 2012) | n2=en:distinct disorder from galactosemia (230400) | rel=r_associated | relid=0 | w=26
  5612. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:dramatic late catch-up growth occurs in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:dramatic late catch-up growth occurs in adolescence | rel=r_associated | relid=0 | w=26
  5613. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:dwarfism not detectable at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=26
  5614. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:dyskinesia may occur in homozygotes (1 reported case)
    n1=en:one patient reported (last curated november 2012) | n2=en:dyskinesia may occur in homozygotes (1 reported case) | rel=r_associated | relid=0 | w=26
  5615. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> 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:one patient reported (last curated november 2012) | 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=26
  5616. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:early age of onset, usually less than 3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:early age of onset, usually less than 3 years | rel=r_associated | relid=0 | w=26
  5617. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:early death in males
    n1=en:one patient reported (last curated november 2012) | n2=en:early death in males | rel=r_associated | relid=0 | w=26
  5618. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:early death without bone marrow transplantation
    n1=en:one patient reported (last curated november 2012) | n2=en:early death without bone marrow transplantation | rel=r_associated | relid=0 | w=26
  5619. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)
    n1=en:one patient reported (last curated november 2012) | n2=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | rel=r_associated | relid=0 | w=26
  5620. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:early treatment can reduce neurologic symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:early treatment can reduce neurologic symptoms | rel=r_associated | relid=0 | w=26
  5621. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:eight patients from 2 unrelated families have been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
  5622. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:episodes last 1 to 2 days
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes last 1 to 2 days | rel=r_associated | relid=0 | w=26
  5623. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:episodes occur 30 minutes to 3 hours after exposure to cold
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=26
  5624. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:episodes tend to decrease with age
    n1=en:one patient reported (last curated november 2012) | n2=en:episodes tend to decrease with age | rel=r_associated | relid=0 | w=26
  5625. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:estimated frequency of 1 in 40,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated frequency of 1 in 40,000 live births | rel=r_associated | relid=0 | w=26
  5626. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:estimated gene carrier frequency of 1 in 5,000
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated gene carrier frequency of 1 in 5,000 | rel=r_associated | relid=0 | w=26
  5627. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:estimated population frequency of 1 in 13,000-20,000
    n1=en:one patient reported (last curated november 2012) | n2=en:estimated population frequency of 1 in 13,000-20,000 | rel=r_associated | relid=0 | w=26
  5628. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:exacerbation following stress, decreased food intake, or alcohol use
    n1=en:one patient reported (last curated november 2012) | n2=en:exacerbation following stress, decreased food intake, or alcohol use | rel=r_associated | relid=0 | w=26
  5629. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:excessive skin picking of sores
    n1=en:one patient reported (last curated november 2012) | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=26
  5630. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:eye involvement begins at birth, neurologic involvement begins later
    n1=en:one patient reported (last curated november 2012) | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=26
  5631. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:facial dysmorphism is age-related and alters substantially over time
    n1=en:one patient reported (last curated november 2012) | n2=en:facial dysmorphism is age-related and alters substantially over time | rel=r_associated | relid=0 | w=26
  5632. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:family c had a milder phenotype with survival into adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:family c had a milder phenotype with survival into adulthood | rel=r_associated | relid=0 | w=26
  5633. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:family history of sudden death, as early as fourth decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:family history of sudden death, as early as fourth decade of life | rel=r_associated | relid=0 | w=26
  5634. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:fat pads become less prominent with time
    n1=en:one patient reported (last curated november 2012) | n2=en:fat pads become less prominent with time | rel=r_associated | relid=0 | w=26
  5635. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:fatal in the neonatal period (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:fatal in the neonatal period (in some patients) | rel=r_associated | relid=0 | w=26
  5636. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:favorable response of seizures to a ketogenic diet
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response of seizures to a ketogenic diet | rel=r_associated | relid=0 | w=26
  5637. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:favorable response to bh4
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to bh4 | rel=r_associated | relid=0 | w=26
  5638. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:favorable response to intermittent, low-dose steroid therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to intermittent, low-dose steroid therapy | rel=r_associated | relid=0 | w=26
  5639. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:favorable response to l-dopa treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=26
  5640. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:favorable response to l-dopa without side effects
    n1=en:one patient reported (last curated november 2012) | n2=en:favorable response to l-dopa without side effects | rel=r_associated | relid=0 | w=26
  5641. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:features in addition to mental retardation are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:features in addition to mental retardation are variable | rel=r_associated | relid=0 | w=26
  5642. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:febrile attacks disappear in adulthood in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:febrile attacks disappear in adulthood in some patients | rel=r_associated | relid=0 | w=26
  5643. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:female carriers may be less severely affected
    n1=en:one patient reported (last curated november 2012) | n2=en:female carriers may be less severely affected | rel=r_associated | relid=0 | w=26
  5644. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:females are more often affected
    n1=en:one patient reported (last curated november 2012) | n2=en:females are more often affected | rel=r_associated | relid=0 | w=26
  5645. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:fifty percent of cases secondary to new mutations
    n1=en:one patient reported (last curated november 2012) | n2=en:fifty percent of cases secondary to new mutations | rel=r_associated | relid=0 | w=26
  5646. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:five clinical variants of msud unassociated with genotype
    n1=en:one patient reported (last curated november 2012) | n2=en:five clinical variants of msud unassociated with genotype | rel=r_associated | relid=0 | w=26
  5647. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:following fever in infancy, muscular weakness and poor growth
    n1=en:one patient reported (last curated november 2012) | n2=en:following fever in infancy, muscular weakness and poor growth | rel=r_associated | relid=0 | w=26
  5648. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:found predominantly in the amish population
    n1=en:one patient reported (last curated november 2012) | n2=en:found predominantly in the amish population | rel=r_associated | relid=0 | w=26
  5649. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:four patients have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients have been reported | rel=r_associated | relid=0 | w=26
  5650. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:four patients have been reported (last curated june 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:four patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=26
  5651. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
    n1=en:one patient reported (last curated november 2012) | 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=26
  5652. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:frequency of infections decreases after 3 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=26
  5653. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:gait difficulties and beginning of cognitive decline in first decade
    n1=en:one patient reported (last curated november 2012) | n2=en:gait difficulties and beginning of cognitive decline in first decade | rel=r_associated | relid=0 | w=26
  5654. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:generally benign disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:generally benign disorder | rel=r_associated | relid=0 | w=26
  5655. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic anticipation associated with progressive telomere shortening
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic anticipation associated with progressive telomere shortening | rel=r_associated | relid=0 | w=26
  5656. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 266900 for summary)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 266900 for summary) | rel=r_associated | relid=0 | w=26
  5657. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 605407)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=26
  5658. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 608638)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see 608638) | rel=r_associated | relid=0 | w=26
  5659. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see bafme2, 607876)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see bafme2, 607876) | rel=r_associated | relid=0 | w=26
  5660. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see cmt4b2, 604563)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cmt4b2, 604563) | rel=r_associated | relid=0 | w=26
  5661. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see cnc2, 605244)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see cnc2, 605244) | rel=r_associated | relid=0 | w=26
  5662. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=26
  5663. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see enfl1, 600513)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see enfl1, 600513) | rel=r_associated | relid=0 | w=26
  5664. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see lgmd1a 159000 for overview)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see lgmd1a 159000 for overview) | rel=r_associated | relid=0 | w=26
  5665. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see madb, 608612)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see madb, 608612) | rel=r_associated | relid=0 | w=26
  5666. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see rieg2, 601499)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see rieg2, 601499) | rel=r_associated | relid=0 | w=26
  5667. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | rel=r_associated | relid=0 | w=26
  5668. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | rel=r_associated | relid=0 | w=26
  5669. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | rel=r_associated | relid=0 | w=26
  5670. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | rel=r_associated | relid=0 | w=26
  5671. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity, see ppnad1 (610489)
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, see ppnad1 (610489) | rel=r_associated | relid=0 | w=26
  5672. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity, some patients not linked to fgfr3
    n1=en:one patient reported (last curated november 2012) | n2=en:genetic heterogeneity, some patients not linked to fgfr3 | rel=r_associated | relid=0 | w=26
  5673. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:germline or somatic mutations may cause the disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:germline or somatic mutations may cause the disorder | rel=r_associated | relid=0 | w=26
  5674. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:good response to vitamin d treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:good response to vitamin d treatment | rel=r_associated | relid=0 | w=26
  5675. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:green color resolves if cholestasis is treated
    n1=en:one patient reported (last curated november 2012) | n2=en:green color resolves if cholestasis is treated | rel=r_associated | relid=0 | w=26
  5676. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:green jaundice occurs only in the context of liver failure or obstructive cholestasis
    n1=en:one patient reported (last curated november 2012) | n2=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | rel=r_associated | relid=0 | w=26
  5677. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:hair phenotype present at birth and involves entire scalp region
    n1=en:one patient reported (last curated november 2012) | n2=en:hair phenotype present at birth and involves entire scalp region | rel=r_associated | relid=0 | w=26
  5678. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:half (50%) of affected patients have a recurrent episode with worse outcome
    n1=en:one patient reported (last curated november 2012) | n2=en:half (50%) of affected patients have a recurrent episode with worse outcome | rel=r_associated | relid=0 | w=26
  5679. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:high frequency in southern india (7% of all epilepsies)
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in southern india (7% of all epilepsies) | rel=r_associated | relid=0 | w=26
  5680. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:high frequency in the french-canadian population
    n1=en:one patient reported (last curated november 2012) | n2=en:high frequency in the french-canadian population | rel=r_associated | relid=0 | w=26
  5681. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:high prevalence in japan
    n1=en:one patient reported (last curated november 2012) | n2=en:high prevalence in japan | rel=r_associated | relid=0 | w=26
  5682. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:high risk of recurrence after surgery
    n1=en:one patient reported (last curated november 2012) | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=26
  5683. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:highly variable frequency and severity of attacks
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=26
  5684. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:highly variable phenotype, some adults may be asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=26
  5685. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:icelandic families
    n1=en:one patient reported (last curated november 2012) | n2=en:icelandic families | rel=r_associated | relid=0 | w=26
  5686. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:in severe attacks, hemiplegia or coma may last days to weeks
    n1=en:one patient reported (last curated november 2012) | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=26
  5687. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:incidence 1 in 300,000 in japan
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1 in 300,000 in japan | rel=r_associated | relid=0 | w=26
  5688. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:incidence 1/100,000 - 1/200,000 live births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=26
  5689. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:incidence 8/1,000 newborns
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=26
  5690. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 10,000 to 1 in 20,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=26
  5691. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:incidence ranges from 1 in 238,095 to 1 in 300,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | rel=r_associated | relid=0 | w=26
  5692. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:incidence worldwide of 1 in 30,000 to 50,000
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence worldwide of 1 in 30,000 to 50,000 | rel=r_associated | relid=0 | w=26
  5693. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:incomplete penetrance of the cardiac phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:incomplete penetrance of the cardiac phenotype | rel=r_associated | relid=0 | w=26
  5694. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased frequency in ashkenazi jewish population
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in ashkenazi jewish population | rel=r_associated | relid=0 | w=26
  5695. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased frequency in eastern pennsylvania amish
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in eastern pennsylvania amish | rel=r_associated | relid=0 | w=26
  5696. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased frequency in finland
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in finland | rel=r_associated | relid=0 | w=26
  5697. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | rel=r_associated | relid=0 | w=26
  5698. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased frequency in the dariusleut hutterites (canada)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in the dariusleut hutterites (canada) | rel=r_associated | relid=0 | w=26
  5699. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased frequency in the faroe islands (carrier 1 in 25)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased frequency in the faroe islands (carrier 1 in 25) | rel=r_associated | relid=0 | w=26
  5700. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)
    n1=en:one patient reported (last curated november 2012) | n2=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | rel=r_associated | relid=0 | w=26
  5701. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased risk of developing early-onset aggressive cancers
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of developing early-onset aggressive cancers | rel=r_associated | relid=0 | w=26
  5702. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased risk of early death
    n1=en:one patient reported (last curated november 2012) | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=26
  5703. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased susceptibility to malignant hyperthermia
    n1=en:one patient reported (last curated november 2012) | n2=en:increased susceptibility to malignant hyperthermia | rel=r_associated | relid=0 | w=26
  5704. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:increased tendency to chromosomal nondisjunction
    n1=en:one patient reported (last curated november 2012) | n2=en:increased tendency to chromosomal nondisjunction | rel=r_associated | relid=0 | w=26
  5705. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:independent ambulation is maintained
    n1=en:one patient reported (last curated november 2012) | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=26
  5706. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:individuals develop ability to stand and walk
    n1=en:one patient reported (last curated november 2012) | n2=en:individuals develop ability to stand and walk | rel=r_associated | relid=0 | w=26
  5707. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:infants are stillborn or die before age 1
    n1=en:one patient reported (last curated november 2012) | n2=en:infants are stillborn or die before age 1 | rel=r_associated | relid=0 | w=26
  5708. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:inheritance pattern is unclear
    n1=en:one patient reported (last curated november 2012) | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=26
  5709. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | rel=r_associated | relid=0 | w=26
  5710. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:insidious onset
    n1=en:one patient reported (last curated november 2012) | n2=en:insidious onset | rel=r_associated | relid=0 | w=26
  5711. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:jbts shows autosomal dominant inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:jbts shows autosomal dominant inheritance | rel=r_associated | relid=0 | w=26
  5712. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:joint symptoms begin in third or fourth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=26
  5713. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)
    n1=en:one patient reported (last curated november 2012) | 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=26
  5714. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:late infantile onset 6-24 months
    n1=en:one patient reported (last curated november 2012) | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=26
  5715. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:late-adult onset (fifth to sixth decade)
    n1=en:one patient reported (last curated november 2012) | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=26
  5716. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:later onset has been rarely reported (up to age 68 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset has been rarely reported (up to age 68 years) | rel=r_associated | relid=0 | w=26
  5717. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:later onset is associated with slower progression and lesser severity
    n1=en:one patient reported (last curated november 2012) | n2=en:later onset is associated with slower progression and lesser severity | rel=r_associated | relid=0 | w=26
  5718. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:lethal
    n1=en:one patient reported (last curated november 2012) | n2=en:lethal | rel=r_associated | relid=0 | w=26
  5719. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:limb malformations are variable
    n1=en:one patient reported (last curated november 2012) | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=26
  5720. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5721. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:lipodystrophic appearance may be mild or not present
    n1=en:one patient reported (last curated november 2012) | n2=en:lipodystrophic appearance may be mild or not present | rel=r_associated | relid=0 | w=26
  5722. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:liveborn often die within first week of life
    n1=en:one patient reported (last curated november 2012) | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=26
  5723. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)
    n1=en:one patient reported (last curated november 2012) | n2=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | rel=r_associated | relid=0 | w=26
  5724. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:lymphedema that presents at puberty is called meige disease (153200)
    n1=en:one patient reported (last curated november 2012) | n2=en:lymphedema that presents at puberty is called meige disease (153200) | rel=r_associated | relid=0 | w=26
  5725. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)
    n1=en:one patient reported (last curated november 2012) | n2=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | rel=r_associated | relid=0 | w=26
  5726. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:majority are stillborn or die in early neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=26
  5727. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:majority die in neonatal period secondary to respiratory insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=26
  5728. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:majority of affected individuals are female (85%)
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of affected individuals are female (85%) | rel=r_associated | relid=0 | w=26
  5729. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:majority of cases are sporadic, often in tall, thin men
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=26
  5730. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:majority of cases diagnosed at age 10-15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=26
  5731. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)
    n1=en:one patient reported (last curated november 2012) | n2=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | rel=r_associated | relid=0 | w=26
  5732. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:males are more severely affected
    n1=en:one patient reported (last curated november 2012) | n2=en:males are more severely affected | rel=r_associated | relid=0 | w=26
  5733. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces
    n1=en:one patient reported (last curated november 2012) | 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=26
  5734. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:manifestations continue to appear until 5th decade
    n1=en:one patient reported (last curated november 2012) | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=26
  5735. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:many adults with typical form remain ambulatory
    n1=en:one patient reported (last curated november 2012) | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=26
  5736. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:many cases are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=26
  5737. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:many patients are asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients are asymptomatic | rel=r_associated | relid=0 | w=26
  5738. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:many patients become wheelchair-bound by second or third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:many patients become wheelchair-bound by second or third decade | rel=r_associated | relid=0 | w=26
  5739. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:marked clinical heterogeneity
    n1=en:one patient reported (last curated november 2012) | n2=en:marked clinical heterogeneity | rel=r_associated | relid=0 | w=26
  5740. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:may be lethal in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:may be lethal in infancy | rel=r_associated | relid=0 | w=26
  5741. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:may be lethal in the neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=26
  5742. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:may be same entity as elejalde syndrome (256710)
    n1=en:one patient reported (last curated november 2012) | n2=en:may be same entity as elejalde syndrome (256710) | rel=r_associated | relid=0 | w=26
  5743. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents
    n1=en:one patient reported (last curated november 2012) | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=26
  5744. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:may fade with age
    n1=en:one patient reported (last curated november 2012) | n2=en:may fade with age | rel=r_associated | relid=0 | w=26
  5745. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:may manifest as 'ataxic' phenotype without parkinsonian features
    n1=en:one patient reported (last curated november 2012) | n2=en:may manifest as 'ataxic' phenotype without parkinsonian features | rel=r_associated | relid=0 | w=26
  5746. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mean age at onset 22 years (range 7 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=26
  5747. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mean age at onset 32 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=26
  5748. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mean age at onset is 13 years (range 6 to 43)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset is 13 years (range 6 to 43) | rel=r_associated | relid=0 | w=26
  5749. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mean age at onset of cerebellar ataxia is 52.8 years
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=26
  5750. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mean age at onset of muscle disease is 42 years (range 24-61)
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age at onset of muscle disease is 42 years (range 24-61) | rel=r_associated | relid=0 | w=26
  5751. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mean age of onset in third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=26
  5752. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mean survival 5 months
    n1=en:one patient reported (last curated november 2012) | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=26
  5753. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980))
    n1=en:one patient reported (last curated november 2012) | n2=en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) | rel=r_associated | relid=0 | w=26
  5754. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:median age of diagnosis - 15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:median age of diagnosis - 15 years | rel=r_associated | relid=0 | w=26
  5755. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:median age of onset of leukoplakia - 7 years (range 1-26 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | rel=r_associated | relid=0 | w=26
  5756. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:median age of onset of nail dystrophy - 7 years (range 1-6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=26
  5757. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mild facial dysmorphism is associated with duplication of the flna gene
    n1=en:one patient reported (last curated november 2012) | n2=en:mild facial dysmorphism is associated with duplication of the flna gene | rel=r_associated | relid=0 | w=26
  5758. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:minimal response to surfactant treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:minimal response to surfactant treatment | rel=r_associated | relid=0 | w=26
  5759. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:more severe in males than in females
    n1=en:one patient reported (last curated november 2012) | n2=en:more severe in males than in females | rel=r_associated | relid=0 | w=26
  5760. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most become wheelchair-bound late in life
    n1=en:one patient reported (last curated november 2012) | n2=en:most become wheelchair-bound late in life | rel=r_associated | relid=0 | w=26
  5761. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most cases are isolated
    n1=en:one patient reported (last curated november 2012) | n2=en:most cases are isolated | rel=r_associated | relid=0 | w=26
  5762. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most common disorder of fatty acid oxidation (1/13,000 births)
    n1=en:one patient reported (last curated november 2012) | n2=en:most common disorder of fatty acid oxidation (1/13,000 births) | rel=r_associated | relid=0 | w=26
  5763. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most common inherited giant platelet disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:most common inherited giant platelet disorder | rel=r_associated | relid=0 | w=26
  5764. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most individuals are wheelchair-bound or bedridden by adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:most individuals are wheelchair-bound or bedridden by adolescence | rel=r_associated | relid=0 | w=26
  5765. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most patients become wheelchair-bound in the second or third decades
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=26
  5766. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most patients die in the neonatal period due to respiratory insufficiency
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients die in the neonatal period due to respiratory insufficiency | rel=r_associated | relid=0 | w=26
  5767. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | rel=r_associated | relid=0 | w=26
  5768. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most patients remain ambulatory
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients remain ambulatory | rel=r_associated | relid=0 | w=26
  5769. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most patients retain ambulation with aids
    n1=en:one patient reported (last curated november 2012) | n2=en:most patients retain ambulation with aids | rel=r_associated | relid=0 | w=26
  5770. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most reported cases come from the island of mauritius or nearby islands
    n1=en:one patient reported (last curated november 2012) | n2=en:most reported cases come from the island of mauritius or nearby islands | rel=r_associated | relid=0 | w=26
  5771. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most severe form of gaucher disease
    n1=en:one patient reported (last curated november 2012) | n2=en:most severe form of gaucher disease | rel=r_associated | relid=0 | w=26
  5772. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:most types show autosomal dominant inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:most types show autosomal dominant inheritance | rel=r_associated | relid=0 | w=26
  5773. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:movements worsened by anxiety
    n1=en:one patient reported (last curated november 2012) | n2=en:movements worsened by anxiety | rel=r_associated | relid=0 | w=26
  5774. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mucocutaneous immunodeficiency syndrome may be prominent
    n1=en:one patient reported (last curated november 2012) | n2=en:mucocutaneous immunodeficiency syndrome may be prominent | rel=r_associated | relid=0 | w=26
  5775. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:multiple gene loci involved in causation of schizophrenia
    n1=en:one patient reported (last curated november 2012) | n2=en:multiple gene loci involved in causation of schizophrenia | rel=r_associated | relid=0 | w=26
  5776. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:mutant alleles have 47 to 63 repeats
    n1=en:one patient reported (last curated november 2012) | n2=en:mutant alleles have 47 to 63 repeats | rel=r_associated | relid=0 | w=26
  5777. en:one patient reported (last curated november 2012) -- 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:one patient reported (last curated november 2012) | 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
  5778. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients
    n1=en:one patient reported (last curated november 2012) | n2=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | rel=r_associated | relid=0 | w=26
  5779. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:neonatal onset of nephrotic syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal onset of nephrotic syndrome | rel=r_associated | relid=0 | w=26
  5780. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:neonatal or infant death
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal or infant death | rel=r_associated | relid=0 | w=26
  5781. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:neonatal/infantile death in most patients
    n1=en:one patient reported (last curated november 2012) | n2=en:neonatal/infantile death in most patients | rel=r_associated | relid=0 | w=26
  5782. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:neuroendocrine recovery occurs in some patients
    n1=en:one patient reported (last curated november 2012) | n2=en:neuroendocrine recovery occurs in some patients | rel=r_associated | relid=0 | w=26
  5783. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:neurologic features occur in adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:neurologic features occur in adulthood | rel=r_associated | relid=0 | w=26
  5784. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:newborn period is critical for survival
    n1=en:one patient reported (last curated november 2012) | n2=en:newborn period is critical for survival | rel=r_associated | relid=0 | w=26
  5785. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected
    n1=en:one patient reported (last curated november 2012) | n2=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | rel=r_associated | relid=0 | w=26
  5786. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:no abnormalities of hair, teeth, or bones
    n1=en:one patient reported (last curated november 2012) | n2=en:no abnormalities of hair, teeth, or bones | rel=r_associated | relid=0 | w=26
  5787. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:nonprogressive or slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:nonprogressive or slowly progressive | rel=r_associated | relid=0 | w=26
  5788. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:nonprogressive or very slowly progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:nonprogressive or very slowly progressive | rel=r_associated | relid=0 | w=26
  5789. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:normal development before onset of seizures
    n1=en:one patient reported (last curated november 2012) | n2=en:normal development before onset of seizures | rel=r_associated | relid=0 | w=26
  5790. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:not all patients have dysmorphic facial features
    n1=en:one patient reported (last curated november 2012) | n2=en:not all patients have dysmorphic facial features | rel=r_associated | relid=0 | w=26
  5791. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:not responsive to biotin treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:not responsive to biotin treatment | rel=r_associated | relid=0 | w=26
  5792. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:not responsive to steroid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:not responsive to steroid treatment | rel=r_associated | relid=0 | w=26
  5793. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:obligate female carriers may show mild signs of muscle weakness, especially of the face
    n1=en:one patient reported (last curated november 2012) | n2=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | rel=r_associated | relid=0 | w=26
  5794. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)
    n1=en:one patient reported (last curated november 2012) | n2=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | rel=r_associated | relid=0 | w=26
  5795. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:occurs in full-term infants
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in full-term infants | rel=r_associated | relid=0 | w=26
  5796. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:occurs on right side in 75% of cases
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs on right side in 75% of cases | rel=r_associated | relid=0 | w=26
  5797. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:often fatal in utero
    n1=en:one patient reported (last curated november 2012) | n2=en:often fatal in utero | rel=r_associated | relid=0 | w=26
  5798. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:often identified in newborn period
    n1=en:one patient reported (last curated november 2012) | n2=en:often identified in newborn period | rel=r_associated | relid=0 | w=26
  5799. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:old order amish, african american, and french patients have been described
    n1=en:one patient reported (last curated november 2012) | n2=en:old order amish, african american, and french patients have been described | rel=r_associated | relid=0 | w=26
  5800. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | rel=r_associated | relid=0 | w=26
  5801. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one chinese family has been reported (as of august 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one chinese family has been reported (as of august 2011) | rel=r_associated | relid=0 | w=26
  5802. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one consanguineous arab family has been reported (last curated april 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous arab family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=26
  5803. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one consanguineous arab israeli family has been reported (last curated february, 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | rel=r_associated | relid=0 | w=26
  5804. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one consanguineous moroccan family has been reported (as of january 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous moroccan family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=26
  5805. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one consanguineous pakistani family has been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one consanguineous pakistani family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5806. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (as of january 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=26
  5807. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=26
  5808. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=26
  5809. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one family has been reported and no additional clinical features were provided (last curated june 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | rel=r_associated | relid=0 | w=26
  5810. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one family of sicilian origin has been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family of sicilian origin has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  5811. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5812. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | rel=r_associated | relid=0 | w=26
  5813. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one japanese family has been reported (last curated december 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one japanese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=26
  5814. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one large 3-generation irish family has been reported (last curated october 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large 3-generation irish family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5815. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one large swedish family has been reported (as of april 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one large swedish family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=26
  5816. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient has been described (last curated january 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been described (last curated january 2016) | rel=r_associated | relid=0 | w=26
  5817. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of february 2012) | rel=r_associated | relid=0 | w=26
  5818. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (as of may 2011)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (as of may 2011) | rel=r_associated | relid=0 | w=26
  5819. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=26
  5820. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (last curated january 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=26
  5821. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (last curated july 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=26
  5822. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient reported (last curated november 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient reported (last curated november 2013) | rel=r_associated | relid=0 | w=26
  5823. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one patient with a de novo mutation has been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one patient with a de novo mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=26
  5824. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one report of a large italian family from sardinia (last curated december 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:one report of a large italian family from sardinia (last curated december 2015) | rel=r_associated | relid=0 | w=26
  5825. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons
    n1=en:one patient reported (last curated november 2012) | n2=en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons | rel=r_associated | relid=0 | w=26
  5826. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset 30-40 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset 30-40 years of age | rel=r_associated | relid=0 | w=26
  5827. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset after age 40 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset after age 40 years | rel=r_associated | relid=0 | w=26
  5828. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset between 2 to 20 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between 2 to 20 years | rel=r_associated | relid=0 | w=26
  5829. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset between second to sixth decades of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset between second to sixth decades of life | rel=r_associated | relid=0 | w=26
  5830. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | rel=r_associated | relid=0 | w=26
  5831. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in childhood (5 to 10 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (5 to 10 years) | rel=r_associated | relid=0 | w=26
  5832. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in childhood (range 1 to 12 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood (range 1 to 12 years) | rel=r_associated | relid=0 | w=26
  5833. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in childhood or adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in childhood or adolescence | rel=r_associated | relid=0 | w=26
  5834. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in early childhood (2-4 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood (2-4 years) | rel=r_associated | relid=0 | w=26
  5835. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in early childhood (4 to 5 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in early childhood (4 to 5 years) | rel=r_associated | relid=0 | w=26
  5836. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in first 2 decades
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first 2 decades | rel=r_associated | relid=0 | w=26
  5837. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in first 2 decades (range 6 to 15 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in first 2 decades (range 6 to 15 years) | rel=r_associated | relid=0 | w=26
  5838. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in infancy after normal birth and neonatal period
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy after normal birth and neonatal period | rel=r_associated | relid=0 | w=26
  5839. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in infancy or childhood (range 1 to 13 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or childhood (range 1 to 13 years) | rel=r_associated | relid=0 | w=26
  5840. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in infancy or first years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in infancy or first years of life | rel=r_associated | relid=0 | w=26
  5841. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in late infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in late infancy | rel=r_associated | relid=0 | w=26
  5842. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in mid-adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in mid-adulthood | rel=r_associated | relid=0 | w=26
  5843. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in second decade of life progresses from mild to profound hearing loss
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in second decade of life progresses from mild to profound hearing loss | rel=r_associated | relid=0 | w=26
  5844. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in teenage years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in teenage years | rel=r_associated | relid=0 | w=26
  5845. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in teens to late twenties (range 14 to 44 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in teens to late twenties (range 14 to 44 years) | rel=r_associated | relid=0 | w=26
  5846. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in the first hours or days of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the first hours or days of life | rel=r_associated | relid=0 | w=26
  5847. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset in the first months of life (3 to 7 months)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset in the first months of life (3 to 7 months) | rel=r_associated | relid=0 | w=26
  5848. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of arthritis in early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of arthritis in early childhood | rel=r_associated | relid=0 | w=26
  5849. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | rel=r_associated | relid=0 | w=26
  5850. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of cardiomyopathy may occur several months after birth
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of cardiomyopathy may occur several months after birth | rel=r_associated | relid=0 | w=26
  5851. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of cough in early adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of cough in early adulthood | rel=r_associated | relid=0 | w=26
  5852. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of fractures in infancy to early childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of fractures in infancy to early childhood | rel=r_associated | relid=0 | w=26
  5853. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of hearing loss in late childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hearing loss in late childhood | rel=r_associated | relid=0 | w=26
  5854. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of hyperuricemia or gout in young adulthood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of hyperuricemia or gout in young adulthood | rel=r_associated | relid=0 | w=26
  5855. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of kyphosis in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of kyphosis in childhood | rel=r_associated | relid=0 | w=26
  5856. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of muscle weakness in early childhood, usually before age 10 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of muscle weakness in early childhood, usually before age 10 years | rel=r_associated | relid=0 | w=26
  5857. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of neurologic events can occur between 4 and 35 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of neurologic events can occur between 4 and 35 years of age | rel=r_associated | relid=0 | w=26
  5858. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of neurologic features is variable, even within the same family (range early childhood to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | rel=r_associated | relid=0 | w=26
  5859. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of overgrowth in the first year of life (in most cases)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=26
  5860. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of renal failure in adulthood (range twenties to fifties)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of renal failure in adulthood (range twenties to fifties) | rel=r_associated | relid=0 | w=26
  5861. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of slowly progressive spastic paraplegia in first or second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of slowly progressive spastic paraplegia in first or second decade | rel=r_associated | relid=0 | w=26
  5862. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of spasticity by age 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of spasticity by age 2 years | rel=r_associated | relid=0 | w=26
  5863. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of spasticity in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of spasticity in childhood | rel=r_associated | relid=0 | w=26
  5864. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms 2-12 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms 2-12 months | rel=r_associated | relid=0 | w=26
  5865. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms at 2-4 months
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms at 2-4 months | rel=r_associated | relid=0 | w=26
  5866. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms in childhood with stiff, painful joints
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in childhood with stiff, painful joints | rel=r_associated | relid=0 | w=26
  5867. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms in second or third decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms in second or third decade | rel=r_associated | relid=0 | w=26
  5868. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms usually between 12-15 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset of symptoms usually between 12-15 years | rel=r_associated | relid=0 | w=26
  5869. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset usually associated with febrile illness
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually associated with febrile illness | rel=r_associated | relid=0 | w=26
  5870. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset usually in infancy or early childhood (9 months to 6 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in infancy or early childhood (9 months to 6 years) | rel=r_associated | relid=0 | w=26
  5871. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset usually in mid-teens, average 15 years (range 2 to 20 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | rel=r_associated | relid=0 | w=26
  5872. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset usually in third or fourth decade
    n1=en:one patient reported (last curated november 2012) | n2=en:onset usually in third or fourth decade | rel=r_associated | relid=0 | w=26
  5873. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset within first 2 years
    n1=en:one patient reported (last curated november 2012) | n2=en:onset within first 2 years | rel=r_associated | relid=0 | w=26
  5874. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:onset within first 2 years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:onset within first 2 years of life | rel=r_associated | relid=0 | w=26
  5875. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients
    n1=en:one patient reported (last curated november 2012) | 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=26
  5876. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:overall prevalence is between 0.5 and 14 per 100,000 people per year
    n1=en:one patient reported (last curated november 2012) | n2=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | rel=r_associated | relid=0 | w=26
  5877. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> 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:one patient reported (last curated november 2012) | 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=26
  5878. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:partial or absent response to steroid treatment
    n1=en:one patient reported (last curated november 2012) | n2=en:partial or absent response to steroid treatment | rel=r_associated | relid=0 | w=26
  5879. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients are born with normal head circumference
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are born with normal head circumference | rel=r_associated | relid=0 | w=26
  5880. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients are often asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:patients are often asymptomatic | rel=r_associated | relid=0 | w=26
  5881. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients do not have clinical hypothyroidism
    n1=en:one patient reported (last curated november 2012) | n2=en:patients do not have clinical hypothyroidism | rel=r_associated | relid=0 | w=26
  5882. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels
    n1=en:one patient reported (last curated november 2012) | n2=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | rel=r_associated | relid=0 | w=26
  5883. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients have normal levels of vitamin a, beta-carotene, and zinc
    n1=en:one patient reported (last curated november 2012) | n2=en:patients have normal levels of vitamin a, beta-carotene, and zinc | rel=r_associated | relid=0 | w=26
  5884. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients may have a combination phenotype of pmc and hypp (see 603967.0005)
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | rel=r_associated | relid=0 | w=26
  5885. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients may have recurrent infections due to immunosuppressive therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:patients may have recurrent infections due to immunosuppressive therapy | rel=r_associated | relid=0 | w=26
  5886. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features
    n1=en:one patient reported (last curated november 2012) | n2=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | rel=r_associated | relid=0 | w=26
  5887. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients walk on tips of toes with dorsal foot deviated laterally
    n1=en:one patient reported (last curated november 2012) | n2=en:patients walk on tips of toes with dorsal foot deviated laterally | rel=r_associated | relid=0 | w=26
  5888. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:patients with longer disease duration show motor neuron involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:patients with longer disease duration show motor neuron involvement | rel=r_associated | relid=0 | w=26
  5889. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:peak age of onset in second decade
    n1=en:one patient reported (last curated november 2012) | n2=en:peak age of onset in second decade | rel=r_associated | relid=0 | w=26
  5890. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:penetrance of disease is complete between 30 and 40 years of age
    n1=en:one patient reported (last curated november 2012) | n2=en:penetrance of disease is complete between 30 and 40 years of age | rel=r_associated | relid=0 | w=26
  5891. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:phenotype is classically defined as aplasia cutis and transverse limb defects
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype is classically defined as aplasia cutis and transverse limb defects | rel=r_associated | relid=0 | w=26
  5892. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | rel=r_associated | relid=0 | w=26
  5893. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:phenotypic overlap with denys-drash syndrome (194080).
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with denys-drash syndrome (194080). | rel=r_associated | relid=0 | w=26
  5894. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | rel=r_associated | relid=0 | w=26
  5895. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:phenotypic similarities to angelman syndrome (105830)
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic similarities to angelman syndrome (105830) | rel=r_associated | relid=0 | w=26
  5896. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:phenotypic variability
    n1=en:one patient reported (last curated november 2012) | n2=en:phenotypic variability | rel=r_associated | relid=0 | w=26
  5897. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns
    n1=en:one patient reported (last curated november 2012) | n2=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | rel=r_associated | relid=0 | w=26
  5898. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:polyps occur in teens
    n1=en:one patient reported (last curated november 2012) | n2=en:polyps occur in teens | rel=r_associated | relid=0 | w=26
  5899. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)
    n1=en:one patient reported (last curated november 2012) | n2=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | rel=r_associated | relid=0 | w=26
  5900. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:possible x-linked recessive inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:possible x-linked recessive inheritance | rel=r_associated | relid=0 | w=26
  5901. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:possibly x-linked recessive inheritance
    n1=en:one patient reported (last curated november 2012) | n2=en:possibly x-linked recessive inheritance | rel=r_associated | relid=0 | w=26
  5902. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:precipitating factors - ingestion of wheat gluten, rye, and/or barley
    n1=en:one patient reported (last curated november 2012) | n2=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | rel=r_associated | relid=0 | w=26
  5903. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prelingual onset
    n1=en:one patient reported (last curated november 2012) | n2=en:prelingual onset | rel=r_associated | relid=0 | w=26
  5904. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:premature aging syndrome
    n1=en:one patient reported (last curated november 2012) | n2=en:premature aging syndrome | rel=r_associated | relid=0 | w=26
  5905. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prenatal onset or onset in infancy
    n1=en:one patient reported (last curated november 2012) | n2=en:prenatal onset or onset in infancy | rel=r_associated | relid=0 | w=26
  5906. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:present in jewish yemenite population
    n1=en:one patient reported (last curated november 2012) | n2=en:present in jewish yemenite population | rel=r_associated | relid=0 | w=26
  5907. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:presumed autosomal dominant with incomplete penetrance
    n1=en:one patient reported (last curated november 2012) | n2=en:presumed autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=26
  5908. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalence 1 in 8000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence 1 in 8000 | rel=r_associated | relid=0 | w=26
  5909. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalence in norway is 1 in 80,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence in norway is 1 in 80,000 | rel=r_associated | relid=0 | w=26
  5910. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 40,000 to 1 in 80,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 40,000 to 1 in 80,000 | rel=r_associated | relid=0 | w=26
  5911. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 6,000 to 1 in 10,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 6,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=26
  5912. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 70,000
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence of 1 in 70,000 | rel=r_associated | relid=0 | w=26
  5913. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalence rates average 10-20% of the general population over age 60
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalence rates average 10-20% of the general population over age 60 | rel=r_associated | relid=0 | w=26
  5914. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | rel=r_associated | relid=0 | w=26
  5915. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalent among the amish
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent among the amish | rel=r_associated | relid=0 | w=26
  5916. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prevalent in the old order amish in the u.s. and in finland
    n1=en:one patient reported (last curated november 2012) | n2=en:prevalent in the old order amish in the u.s. and in finland | rel=r_associated | relid=0 | w=26
  5917. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:primarily diagnosed in females
    n1=en:one patient reported (last curated november 2012) | n2=en:primarily diagnosed in females | rel=r_associated | relid=0 | w=26
  5918. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:primary teeth affected greater than secondary teeth
    n1=en:one patient reported (last curated november 2012) | n2=en:primary teeth affected greater than secondary teeth | rel=r_associated | relid=0 | w=26
  5919. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:progressive clinical course with onset in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:progressive clinical course with onset in childhood | rel=r_associated | relid=0 | w=26
  5920. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:prominent psychiatric symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:prominent psychiatric symptoms | rel=r_associated | relid=0 | w=26
  5921. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:protein c deficiency is found in 3-4% of patients with venous thromboembolism
    n1=en:one patient reported (last curated november 2012) | n2=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | rel=r_associated | relid=0 | w=26
  5922. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:protein s deficiency is found in 2-3% of patients with thromboembolism
    n1=en:one patient reported (last curated november 2012) | n2=en:protein s deficiency is found in 2-3% of patients with thromboembolism | rel=r_associated | relid=0 | w=26
  5923. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:protracted disease course
    n1=en:one patient reported (last curated november 2012) | n2=en:protracted disease course | rel=r_associated | relid=0 | w=26
  5924. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:pseudomembrane formation triggered by injury, infection, irritation, surgery
    n1=en:one patient reported (last curated november 2012) | n2=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | rel=r_associated | relid=0 | w=26
  5925. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:rare autosomal dominant inheritance has been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=26
  5926. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:rarely, patients may be asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:rarely, patients may be asymptomatic | rel=r_associated | relid=0 | w=26
  5927. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect
    n1=en:one patient reported (last curated november 2012) | n2=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | rel=r_associated | relid=0 | w=26
  5928. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:reduced fetal movement
    n1=en:one patient reported (last curated november 2012) | n2=en:reduced fetal movement | rel=r_associated | relid=0 | w=26
  5929. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:one patient reported (last curated november 2012) | n2=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=26
  5930. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative
    n1=en:one patient reported (last curated november 2012) | n2=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=26
  5931. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:renal involvement and coloboma may not be present
    n1=en:one patient reported (last curated november 2012) | n2=en:renal involvement and coloboma may not be present | rel=r_associated | relid=0 | w=26
  5932. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:reported in individuals of amish or mennonite descent
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in individuals of amish or mennonite descent | rel=r_associated | relid=0 | w=26
  5933. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:reported in the ohio amish anabaptist community
    n1=en:one patient reported (last curated november 2012) | n2=en:reported in the ohio amish anabaptist community | rel=r_associated | relid=0 | w=26
  5934. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:resembles pseudo-torch syndrome (251290)
    n1=en:one patient reported (last curated november 2012) | n2=en:resembles pseudo-torch syndrome (251290) | rel=r_associated | relid=0 | w=26
  5935. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:responsive to vitamin b12 therapy
    n1=en:one patient reported (last curated november 2012) | n2=en:responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=26
  5936. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:retinal degeneration not always present
    n1=en:one patient reported (last curated november 2012) | n2=en:retinal degeneration not always present | rel=r_associated | relid=0 | w=26
  5937. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:risk of affected offspring in paternal translocation carrier - 0-7%
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of affected offspring in paternal translocation carrier - 0-7% | rel=r_associated | relid=0 | w=26
  5938. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:risk of death due to cardiac dysfunction
    n1=en:one patient reported (last curated november 2012) | n2=en:risk of death due to cardiac dysfunction | rel=r_associated | relid=0 | w=26
  5939. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:second most common form of usher syndrome type i
    n1=en:one patient reported (last curated november 2012) | n2=en:second most common form of usher syndrome type i | rel=r_associated | relid=0 | w=26
  5940. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:secondary features include arterial hypertension and renal involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:secondary features include arterial hypertension and renal involvement | rel=r_associated | relid=0 | w=26
  5941. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see (608328) for a phenotypically similar autosomal dominant form
    n1=en:one patient reported (last curated november 2012) | n2=en:see (608328) for a phenotypically similar autosomal dominant form | rel=r_associated | relid=0 | w=26
  5942. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see 609888 for a discussion on leprosy susceptibility
    n1=en:one patient reported (last curated november 2012) | n2=en:see 609888 for a discussion on leprosy susceptibility | rel=r_associated | relid=0 | w=26
  5943. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | rel=r_associated | relid=0 | w=26
  5944. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also autosomal dominant form (160800), which is less common and less severe
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal dominant form (160800), which is less common and less severe | rel=r_associated | relid=0 | w=26
  5945. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also autosomal recessive form (612304)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also autosomal recessive form (612304) | rel=r_associated | relid=0 | w=26
  5946. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also benign familial infantile convulsions (bfic1, 601764)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also benign familial infantile convulsions (bfic1, 601764) | rel=r_associated | relid=0 | w=26
  5947. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also benign neonatal epilepsy (ebn1, 121200)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also benign neonatal epilepsy (ebn1, 121200) | rel=r_associated | relid=0 | w=26
  5948. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also later childhood-onset form (300718)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also later childhood-onset form (300718) | rel=r_associated | relid=0 | w=26
  5949. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also optic atrophy 1 (165500), an allelic disorder without deafness
    n1=en:one patient reported (last curated november 2012) | n2=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | rel=r_associated | relid=0 | w=26
  5950. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also optic atrophy with deafness (125250), an allelic disorder
    n1=en:one patient reported (last curated november 2012) | n2=en:see also optic atrophy with deafness (125250), an allelic disorder | rel=r_associated | relid=0 | w=26
  5951. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also the lethal neonatal (608836) and infantile (600649) forms
    n1=en:one patient reported (last curated november 2012) | n2=en:see also the lethal neonatal (608836) and infantile (600649) forms | rel=r_associated | relid=0 | w=26
  5952. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040)
    n1=en:one patient reported (last curated november 2012) | n2=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | rel=r_associated | relid=0 | w=26
  5953. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)
    n1=en:one patient reported (last curated november 2012) | 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=26
  5954. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:seizure onset in first months or years of life
    n1=en:one patient reported (last curated november 2012) | n2=en:seizure onset in first months or years of life | rel=r_associated | relid=0 | w=26
  5955. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:seizures are refractory
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are refractory | rel=r_associated | relid=0 | w=26
  5956. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:seizures are usually refractory
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures are usually refractory | rel=r_associated | relid=0 | w=26
  5957. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | rel=r_associated | relid=0 | w=26
  5958. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:seizures tend to remit later in childhood
    n1=en:one patient reported (last curated november 2012) | n2=en:seizures tend to remit later in childhood | rel=r_associated | relid=0 | w=26
  5959. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:sensory loss is rapidly progressive and severe
    n1=en:one patient reported (last curated november 2012) | n2=en:sensory loss is rapidly progressive and severe | rel=r_associated | relid=0 | w=26
  5960. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5961. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5962. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5963. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5964. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5965. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5966. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5967. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:one patient reported (last curated november 2012) | 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=26
  5968. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:severe involvement of legs
    n1=en:one patient reported (last curated november 2012) | n2=en:severe involvement of legs | rel=r_associated | relid=0 | w=26
  5969. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:severe volume depletion
    n1=en:one patient reported (last curated november 2012) | n2=en:severe volume depletion | rel=r_associated | relid=0 | w=26
  5970. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:severity of phenotype is not related to residual enzyme activity
    n1=en:one patient reported (last curated november 2012) | n2=en:severity of phenotype is not related to residual enzyme activity | rel=r_associated | relid=0 | w=26
  5971. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200)
    n1=en:one patient reported (last curated november 2012) | n2=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | rel=r_associated | relid=0 | w=26
  5972. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:similar phenotype to x-linked hypophosphatemia (xlh, 307800)
    n1=en:one patient reported (last curated november 2012) | n2=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | rel=r_associated | relid=0 | w=26
  5973. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:sleepwalking usually remits in adolescence
    n1=en:one patient reported (last curated november 2012) | n2=en:sleepwalking usually remits in adolescence | rel=r_associated | relid=0 | w=26
  5974. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:slight increased risk for malignancy
    n1=en:one patient reported (last curated november 2012) | n2=en:slight increased risk for malignancy | rel=r_associated | relid=0 | w=26
  5975. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:slow progression
    n1=en:one patient reported (last curated november 2012) | n2=en:slow progression | rel=r_associated | relid=0 | w=26
  5976. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some affected individuals have normal subsequent development
    n1=en:one patient reported (last curated november 2012) | n2=en:some affected individuals have normal subsequent development | rel=r_associated | relid=0 | w=26
  5977. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features
    n1=en:one patient reported (last curated november 2012) | n2=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | rel=r_associated | relid=0 | w=26
  5978. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some carrier females may manifest mild symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:some carrier females may manifest mild symptoms | rel=r_associated | relid=0 | w=26
  5979. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)
    n1=en:one patient reported (last curated november 2012) | n2=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | rel=r_associated | relid=0 | w=26
  5980. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | rel=r_associated | relid=0 | w=26
  5981. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some heterozygous carriers may have mild manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:some heterozygous carriers may have mild manifestations | rel=r_associated | relid=0 | w=26
  5982. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients have additional neurologic involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have additional neurologic involvement | rel=r_associated | relid=0 | w=26
  5983. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients have an attenuated phenotype
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have an attenuated phenotype | rel=r_associated | relid=0 | w=26
  5984. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age | rel=r_associated | relid=0 | w=26
  5985. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients have no neurologic abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have no neurologic abnormalities | rel=r_associated | relid=0 | w=26
  5986. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients have only ocular involvement or only oral involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have only ocular involvement or only oral involvement | rel=r_associated | relid=0 | w=26
  5987. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients have only plantar surface involvement
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have only plantar surface involvement | rel=r_associated | relid=0 | w=26
  5988. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients have onset in second decade of life
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=26
  5989. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients may be clinically asymptomatic
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=26
  5990. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
    n1=en:one patient reported (last curated november 2012) | 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=26
  5991. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients may have a more protracted disorder with neurodegeneration
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may have a more protracted disorder with neurodegeneration | rel=r_associated | relid=0 | w=26
  5992. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients may present with adult-onset small fiber neuropathy
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients may present with adult-onset small fiber neuropathy | rel=r_associated | relid=0 | w=26
  5993. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some patients report seasonal variation in symptoms
    n1=en:one patient reported (last curated november 2012) | n2=en:some patients report seasonal variation in symptoms | rel=r_associated | relid=0 | w=26
  5994. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700)
    n1=en:one patient reported (last curated november 2012) | n2=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | rel=r_associated | relid=0 | w=26
  5995. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:sparing of some nails in some individuals
    n1=en:one patient reported (last curated november 2012) | n2=en:sparing of some nails in some individuals | rel=r_associated | relid=0 | w=26
  5996. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:spinal tumors are necessary for diagnosis
    n1=en:one patient reported (last curated november 2012) | n2=en:spinal tumors are necessary for diagnosis | rel=r_associated | relid=0 | w=26
  5997. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14
    n1=en:one patient reported (last curated november 2012) | n2=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | rel=r_associated | relid=0 | w=26
  5998. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:spots occur in 95% of patients but can be absent
    n1=en:one patient reported (last curated november 2012) | n2=en:spots occur in 95% of patients but can be absent | rel=r_associated | relid=0 | w=26
  5999. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:subclavian artery supply disruption in embryogenesis has been suggested as etiology
    n1=en:one patient reported (last curated november 2012) | n2=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | rel=r_associated | relid=0 | w=26
  6000. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:subtype 3a comprises myoclonus and dementia
    n1=en:one patient reported (last curated november 2012) | n2=en:subtype 3a comprises myoclonus and dementia | rel=r_associated | relid=0 | w=26
  6001. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:subtype of migraine with aura
    n1=en:one patient reported (last curated november 2012) | n2=en:subtype of migraine with aura | rel=r_associated | relid=0 | w=26
  6002. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:sudden death secondary to impaction of medulla oblongata
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden death secondary to impaction of medulla oblongata | rel=r_associated | relid=0 | w=26
  6003. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:sudden infant death may occur
    n1=en:one patient reported (last curated november 2012) | n2=en:sudden infant death may occur | rel=r_associated | relid=0 | w=26
  6004. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:symptoms may be aggravated by acute illness
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms may be aggravated by acute illness | rel=r_associated | relid=0 | w=26
  6005. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:symptoms may be exacerbated by pregnancy or trauma
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms may be exacerbated by pregnancy or trauma | rel=r_associated | relid=0 | w=26
  6006. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:symptoms noted at 2-3 years
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms noted at 2-3 years | rel=r_associated | relid=0 | w=26
  6007. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation)
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | rel=r_associated | relid=0 | w=26
  6008. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:symptoms occur only during sleep
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms occur only during sleep | rel=r_associated | relid=0 | w=26
  6009. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:symptoms of zinc deficiency occur only in exclusively breastfed infants
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | rel=r_associated | relid=0 | w=26
  6010. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
    n1=en:one patient reported (last curated november 2012) | n2=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | rel=r_associated | relid=0 | w=26
  6011. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500)
    n1=en:one patient reported (last curated november 2012) | n2=en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) | rel=r_associated | relid=0 | w=26
  6012. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:the frequency is estimated at 1/20,000 to 1/50,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:the frequency is estimated at 1/20,000 to 1/50,000 births | rel=r_associated | relid=0 | w=26
  6013. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:three girls from 2 unrelated families have been reported (last curated june 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:three girls from 2 unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=26
  6014. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:three main phenotypes
    n1=en:one patient reported (last curated november 2012) | n2=en:three main phenotypes | rel=r_associated | relid=0 | w=26
  6015. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=26
  6016. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:three times more common in males
    n1=en:one patient reported (last curated november 2012) | n2=en:three times more common in males | rel=r_associated | relid=0 | w=26
  6017. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:three unrelated patients have been reported (last curated july 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:three unrelated patients have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=26
  6018. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:torso and upper body remain normal in shape and contour
    n1=en:one patient reported (last curated november 2012) | n2=en:torso and upper body remain normal in shape and contour | rel=r_associated | relid=0 | w=26
  6019. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:treatment with dichloroacetate (dca) prolongs survival
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with dichloroacetate (dca) prolongs survival | rel=r_associated | relid=0 | w=26
  6020. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:treatment with levodopa is not effective
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with levodopa is not effective | rel=r_associated | relid=0 | w=26
  6021. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:treatment with serine and glycine replacement may alleviate features if started at birth
    n1=en:one patient reported (last curated november 2012) | n2=en:treatment with serine and glycine replacement may alleviate features if started at birth | rel=r_associated | relid=0 | w=26
  6022. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:tremor is aggravated by low glucose or light
    n1=en:one patient reported (last curated november 2012) | n2=en:tremor is aggravated by low glucose or light | rel=r_associated | relid=0 | w=26
  6023. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:triggers are variable, even within a family
    n1=en:one patient reported (last curated november 2012) | n2=en:triggers are variable, even within a family | rel=r_associated | relid=0 | w=26
  6024. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two affected sibs have been reported (last curated july 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two affected sibs have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=26
  6025. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two brothers in a french family have been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two brothers in a french family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
  6026. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> 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:one patient reported (last curated november 2012) | 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=26
  6027. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two consanguineous turkish families have been reported (last curated january 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two consanguineous turkish families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=26
  6028. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two families with confirmed adra2b mutations have been reported (last curated june 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=26
  6029. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two forms: iia (severe) and iib (mild)
    n1=en:one patient reported (last curated november 2012) | n2=en:two forms: iia (severe) and iib (mild) | rel=r_associated | relid=0 | w=26
  6030. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two japanese families have been reported (as of february 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two japanese families have been reported (as of february 2012) | rel=r_associated | relid=0 | w=26
  6031. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two japanese patients have been reported (last curated march 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two japanese patients have been reported (last curated march 2013) | rel=r_associated | relid=0 | w=26
  6032. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two loci control synthesis of c4, c4a (120810) and c4b (120820)
    n1=en:one patient reported (last curated november 2012) | n2=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | rel=r_associated | relid=0 | w=26
  6033. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two main phenotypes, severe and mild
    n1=en:one patient reported (last curated november 2012) | n2=en:two main phenotypes, severe and mild | rel=r_associated | relid=0 | w=26
  6034. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two mother and child pairs have been reported (last curated july 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two mother and child pairs have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=26
  6035. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | rel=r_associated | relid=0 | w=26
  6036. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=26
  6037. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two patients have been reported
    n1=en:one patient reported (last curated november 2012) | n2=en:two patients have been reported | rel=r_associated | relid=0 | w=26
  6038. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two sibs have been reported (last curated may 2013)
    n1=en:one patient reported (last curated november 2012) | n2=en:two sibs have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=26
  6039. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two thirds of patients are female
    n1=en:one patient reported (last curated november 2012) | n2=en:two thirds of patients are female | rel=r_associated | relid=0 | w=26
  6040. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two unrelated boys reported with relatively mild phenotype (last curated may 2012)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | rel=r_associated | relid=0 | w=26
  6041. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two unrelated consanguineous families have been reported (last curated march 2015)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated consanguineous families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
  6042. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated august 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=26
  6043. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated september 2014)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=26
  6044. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two unrelated men have been reported (last curated march 2016)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated men have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=26
  6045. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (as of august 2010)
    n1=en:one patient reported (last curated november 2012) | n2=en:two unrelated patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=26
  6046. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:u-shaped pattern of temperature-dependent potassium flux (in some patients)
    n1=en:one patient reported (last curated november 2012) | n2=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=26
  6047. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> 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:one patient reported (last curated november 2012) | 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=26
  6048. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:up to 50% of patients may have various additional congenital anomalies
    n1=en:one patient reported (last curated november 2012) | n2=en:up to 50% of patients may have various additional congenital anomalies | rel=r_associated | relid=0 | w=26
  6049. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:usually progressive
    n1=en:one patient reported (last curated november 2012) | n2=en:usually progressive | rel=r_associated | relid=0 | w=26
  6050. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (earliest reported 7 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (earliest reported 7 years) | rel=r_associated | relid=0 | w=26
  6051. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range 14 to 50 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range 14 to 50 years) | rel=r_associated | relid=0 | w=26
  6052. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range infancy to adulthood)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset (range infancy to adulthood) | rel=r_associated | relid=0 | w=26
  6053. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable age at onset, ranging from 18 months to 27 years
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age at onset, ranging from 18 months to 27 years | rel=r_associated | relid=0 | w=26
  6054. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable age of onset (infancy to 63 years)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (infancy to 63 years) | rel=r_associated | relid=0 | w=26
  6055. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable age of onset (range early childhood to adult)
    n1=en:one patient reported (last curated november 2012) | n2=en:variable age of onset (range early childhood to adult) | rel=r_associated | relid=0 | w=26
  6056. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable frequency and duration of episodes
    n1=en:one patient reported (last curated november 2012) | n2=en:variable frequency and duration of episodes | rel=r_associated | relid=0 | w=26
  6057. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable manifestation of features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable manifestation of features | rel=r_associated | relid=0 | w=26
  6058. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable penetrance of these features
    n1=en:one patient reported (last curated november 2012) | n2=en:variable penetrance of these features | rel=r_associated | relid=0 | w=26
  6059. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable presentation
    n1=en:one patient reported (last curated november 2012) | n2=en:variable presentation | rel=r_associated | relid=0 | w=26
  6060. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable response to acetylcholinesterase inhibitors
    n1=en:one patient reported (last curated november 2012) | n2=en:variable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=26
  6061. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation | rel=r_associated | relid=0 | w=26
  6062. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable severity of brain malformations
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity of brain malformations | rel=r_associated | relid=0 | w=26
  6063. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:variable severity of clinical and radiologic manifestations
    n1=en:one patient reported (last curated november 2012) | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=26
  6064. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities
    n1=en:one patient reported (last curated november 2012) | n2=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | rel=r_associated | relid=0 | w=26
  6065. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:vhl type 1 - renal carcinoma and hemangioblastoma
    n1=en:one patient reported (last curated november 2012) | n2=en:vhl type 1 - renal carcinoma and hemangioblastoma | rel=r_associated | relid=0 | w=26
  6066. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:wheelchair use by 10-30 years
    n1=en:one patient reported (last curated november 2012) | n2=en:wheelchair use by 10-30 years | rel=r_associated | relid=0 | w=26
  6067. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:wide phenotypic variability and severity
    n1=en:one patient reported (last curated november 2012) | n2=en:wide phenotypic variability and severity | rel=r_associated | relid=0 | w=26
  6068. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:women affected more than men (3:2)
    n1=en:one patient reported (last curated november 2012) | n2=en:women affected more than men (3:2) | rel=r_associated | relid=0 | w=26
  6069. en:one patient reported (last curated november 2012) -- r_associated #0: 26 / 0.605 -> en:zinc deficiency in breastfed offspring resolves after weaning
    n1=en:one patient reported (last curated november 2012) | n2=en:zinc deficiency in breastfed offspring resolves after weaning | rel=r_associated | relid=0 | w=26
  6070. en:one patient reported (last curated november 2012) -- r_associated #0: 25 / 0.581 -> en:one
    n1=en:one patient reported (last curated november 2012) | n2=en:one | rel=r_associated | relid=0 | w=25
  6071. en:one patient reported (last curated november 2012) -- r_associated #0: 25 / 0.581 -> patient
    n1=en:one patient reported (last curated november 2012) | n2=patient | rel=r_associated | relid=0 | w=25
  6072. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate
    n1=en:one patient reported (last curated november 2012) | n2=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | rel=r_associated | relid=0 | w=20
  6073. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> en:osteoglophonic, derived from greek meaning hollowed out
    n1=en:one patient reported (last curated november 2012) | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20
  6074. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> en:retinitis pigmentosa
    n1=en:one patient reported (last curated november 2012) | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20
  6075. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> létal
    n1=en:one patient reported (last curated november 2012) | n2=létal | rel=r_associated | relid=0 | w=20
  6076. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire
    n1=en:one patient reported (last curated november 2012) | n2=rétinite pigmentaire | rel=r_associated | relid=0 | w=20
  6077. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire d'apparition tardive
    n1=en:one patient reported (last curated november 2012) | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20
  6078. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr)
    n1=en:one patient reported (last curated november 2012) | n2=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | rel=r_associated | relid=0 | w=20
  6079. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la périphérine
    n1=en:one patient reported (last curated november 2012) | n2=rétinite pigmentaire liée à la périphérine | rel=r_associated | relid=0 | w=20
  6080. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée au sexe récessive 3
    n1=en:one patient reported (last curated november 2012) | n2=rétinite pigmentaire liée au sexe récessive 3 | rel=r_associated | relid=0 | w=20
  6081. en:one patient reported (last curated november 2012) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire, surdité, retard mental, et hypogonadisme
    n1=en:one patient reported (last curated november 2012) | n2=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | rel=r_associated | relid=0 | w=20
≈ 6113 relations entrantes

  1. 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: 43 --> en:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=43
  2. en:based on one jordanian family (last curated august 2015) --- r_associated #0: 43 --> en:one patient reported (last curated november 2012)
    n1=en:based on one jordanian family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=43
  3. 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: 43 --> en:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=43
  4. en:episode frequency is monthly to yearly, and decreases with age --- r_associated #0: 43 --> en:one patient reported (last curated november 2012)
    n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=43
  5. en:exacerbated by stress --- r_associated #0: 43 --> en:one patient reported (last curated november 2012)
    n1=en:exacerbated by stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=43
  6. en:foot deformities are present in infancy or childhood --- r_associated #0: 43 --> en:one patient reported (last curated november 2012)
    n1=en:foot deformities are present in infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=43
  7. en:some patients have onset in second decade of life --- r_associated #0: 43 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have onset in second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=43
  8. en:allelic disorder to potassium-aggravated myotonia (608390) --- r_associated #0: 42 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=42
  9. en:incidence - 1/16,000 live births --- r_associated #0: 42 --> en:one patient reported (last curated november 2012)
    n1=en:incidence - 1/16,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=42
  10. en:major cause of death is heart failure --- r_associated #0: 42 --> en:one patient reported (last curated november 2012)
    n1=en:major cause of death is heart failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=42
  11. en:two unrelated families have been reported (last curated february 2016) --- r_associated #0: 42 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=42
  12. en:estimated frequence 1/3000 to 1/5000 --- r_associated #0: 41 --> en:one patient reported (last curated november 2012)
    n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=41
  13. en:increased aneuploidy in offspring --- r_associated #0: 41 --> en:one patient reported (last curated november 2012)
    n1=en:increased aneuploidy in offspring | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=41
  14. en:majority of patients are ambulatory --- r_associated #0: 41 --> en:one patient reported (last curated november 2012)
    n1=en:majority of patients are ambulatory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=41
  15. en:caused by inheritance of the mutation on the paternal allele (imprinting) --- r_associated #0: 40 --> en:one patient reported (last curated november 2012)
    n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  16. en:color vision defects may not be part of the phenotype --- r_associated #0: 40 --> en:one patient reported (last curated november 2012)
    n1=en:color vision defects may not be part of the phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  17. en:incidence of 1 in 50,000 to 1 in 100,000 --- r_associated #0: 40 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  18. en:incomplete penetrance (50%) --- r_associated #0: 40 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance (50%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  19. en:mean age of diagnosis 40 years --- r_associated #0: 40 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of diagnosis 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  20. en:retinitis pigmentosa --- r_associated #0: 40 --> en:one patient reported (last curated november 2012)
    n1=en:retinitis pigmentosa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  21. rétinite pigmentaire d'apparition tardive --- r_associated #0: 40 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire d'apparition tardive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=40
  22. en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) --- r_associated #0: 39 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
  23. en:fractures decrease after puberty but increase after menopause --- r_associated #0: 39 --> en:one patient reported (last curated november 2012)
    n1=en:fractures decrease after puberty but increase after menopause | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
  24. en:late-adult onset --- r_associated #0: 39 --> en:one patient reported (last curated november 2012)
    n1=en:late-adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
  25. en:later onset has been reported --- r_associated #0: 39 --> en:one patient reported (last curated november 2012)
    n1=en:later onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
  26. en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features --- r_associated #0: 39 --> en:one patient reported (last curated november 2012)
    n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
  27. en:three unrelated patients have been reported (last curated july 2015) --- r_associated #0: 39 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=39
  28. en:frequency and severity of symptoms do not worsen with age --- r_associated #0: 38 --> en:one patient reported (last curated november 2012)
    n1=en:frequency and severity of symptoms do not worsen with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=38
  29. en:incidence 1 in 30,000 male births --- r_associated #0: 38 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1 in 30,000 male births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=38
  30. en:majority of cases are sporadic, often in tall, thin men --- r_associated #0: 38 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=38
  31. en:majority of cases sporadic --- r_associated #0: 38 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=38
  32. en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty --- r_associated #0: 37 --> en:one patient reported (last curated november 2012)
    n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  33. en:death due to rapidly progressive pulmonary fibrosis in infancy --- r_associated #0: 37 --> en:one patient reported (last curated november 2012)
    n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  34. en:hypersensitivity to ionizing radiation --- r_associated #0: 37 --> en:one patient reported (last curated november 2012)
    n1=en:hypersensitivity to ionizing radiation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  35. en:incidence of 1 in 3,500 boys --- r_associated #0: 37 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 3,500 boys | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  36. en:intracellular accumulation of material can occur in neuronal and nonneuronal cells --- r_associated #0: 37 --> en:one patient reported (last curated november 2012)
    n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  37. en:intrafamilial variability in number of missing teeth --- r_associated #0: 37 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variability in number of missing teeth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  38. en:mild asymmetric regional disease (e.g. 180380.0029) --- r_associated #0: 37 --> en:one patient reported (last curated november 2012)
    n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  39. en:a milder form has also been reported --- r_associated #0: 36 --> en:one patient reported (last curated november 2012)
    n1=en:a milder form has also been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=36
  40. en:drug-induced dyskinesias occur in a subset of patients --- r_associated #0: 36 --> en:one patient reported (last curated november 2012)
    n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=36
  41. en:many cases are asymptomatic --- r_associated #0: 36 --> en:one patient reported (last curated november 2012)
    n1=en:many cases are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=36
  42. en:about 20% of female mutation carriers may show mild muscle weakness --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  43. en:absence seizures show onset between 3.5 and 4 years --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  44. en:age of onset between 5 and 10 years of age --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset between 5 and 10 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  45. en:age of onset of distal lower limb weakness 8-16 years --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  46. en:allelic disorder to benign hereditary chorea (118700), which is less severe --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  47. en:allelic disorder to early-onset sarcoidosis (609464) --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  48. en:attacks more common in women --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:attacks more common in women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  49. en:autoimmune features are variable --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:autoimmune features are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  50. en:autosomal recessive inheritance with earlier onset has been reported in 3 patients --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  51. en:cardiac examination is usually unremarkable --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:cardiac examination is usually unremarkable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  52. en:childhood onset --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:childhood onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  53. en:childhood or adolescent onset (usually less than 25 years) --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  54. en:clinical presentation varies from asymptomatic to fulminant course --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  55. 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: 35 --> en:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  56. en:death usually in newborn period or infancy --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in newborn period or infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  57. en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  58. en:dwarfism not detectable at birth --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:dwarfism not detectable at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  59. en:early death due to sepsis --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:early death due to sepsis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  60. en:early death in males --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:early death in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  61. en:end-stage renal failure may occur --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:end-stage renal failure may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  62. en:excessive skin picking of sores --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:excessive skin picking of sores | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  63. en:favorable response to 3,4-diaminopyridine --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to 3,4-diaminopyridine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  64. en:fishy body odor --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:fishy body odor | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  65. en:genetic heterogeneity (see mcc1 deficiency 210200) --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  66. en:heterozygotes are not affected --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes are not affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  67. en:heterozygous females may exhibit variable degrees of enzyme deficiency --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  68. en:high frequency of absence seizures (several per day) --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency of absence seizures (several per day) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  69. en:highly variable expression --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable expression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  70. en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  71. en:icelandic families --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:icelandic families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  72. en:improvement with age --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:improvement with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  73. en:in general, men have more severe disease than women --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:in general, men have more severe disease than women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  74. en:incidence 1 in 15,000-28,000 births --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1 in 15,000-28,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  75. en:incidence 1/100,000 - 1/200,000 live births --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  76. en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  77. en:incomplete penetrance of optic atrophy --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance of optic atrophy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  78. en:independent ambulation is maintained --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:independent ambulation is maintained | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  79. en:infantile form accounts for 90% of cases --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:infantile form accounts for 90% of cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  80. en:inflammatory arthritis may develop in 30% of patients --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  81. en:inheritance pattern is unclear --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:inheritance pattern is unclear | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  82. en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  83. en:interfamilial and intrafamilial clinical heterogeneity --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  84. 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: 35 --> en:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  85. en:late adult onset (after age 55 years) --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:late adult onset (after age 55 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  86. en:left sided involvement occurs more frequently --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:left sided involvement occurs more frequently | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  87. en:life-threatening infections --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:life-threatening infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  88. en:loss of tumor suppressor gene --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:loss of tumor suppressor gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  89. en:majority of cases (95%) are sporadic --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases (95%) are sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  90. en:majority of cases have been sporadic --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases have been sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  91. en:manifestations continue to appear until 5th decade --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:manifestations continue to appear until 5th decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  92. en:manifests in infancy (including neonatal lethal) or childhood --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  93. en:many patients become wheelchair-bound --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:many patients become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  94. en:many patients lose independent mobility after 25 years --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:many patients lose independent mobility after 25 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  95. en:may be asymptomatic --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:may be asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  96. en:may be triggered by minor head trauma --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:may be triggered by minor head trauma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  97. en:may fade with age --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:may fade with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  98. en:median age of diagnosis is 28 years --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:median age of diagnosis is 28 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  99. en:onset of symptoms in early childhood in most patients --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in early childhood in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  100. en:onset usually in childhood or adolescence --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood or adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  101. en:osteoglophonic, derived from greek meaning hollowed out --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  102. en:retinal holes were present in an asymptomatic female carrier --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  103. en:two unrelated families have been reported (last curated october 2015) --- r_associated #0: 35 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  104. en:abnormal sensitivity to therapeutic radiation --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:abnormal sensitivity to therapeutic radiation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  105. en:adult onset (wide range of age) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (wide range of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  106. en:age at onset 14 to 44 years --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset 14 to 44 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  107. en:average onset 6-10 months (range 3-24) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:average onset 6-10 months (range 3-24) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  108. en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  109. en:cutaneous symptoms induced by cold exposure or cooling --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  110. en:death in infancy secondary to respiratory insufficiency/pneumonia --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  111. en:death often occurs in childhood --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:death often occurs in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  112. en:diagnosis within the first 3 months of life --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis within the first 3 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  113. en:episodes occur 30 minutes to 3 hours after exposure to cold --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  114. en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  115. en:female carriers may show intermittent hematuria --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may show intermittent hematuria | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  116. en:genetic heterogeneity (see 605407) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 605407) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  117. en:good response to steroid treatment --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:good response to steroid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  118. en:gradual progression --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:gradual progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  119. en:hearing loss occurs in late childhood --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss occurs in late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  120. en:highly variable clinical phenotype --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable clinical phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  121. en:highly variable frequency and severity of attacks --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable frequency and severity of attacks | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  122. en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  123. en:highly variable severity and features --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable severity and features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  124. en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  125. en:hyperthermia in early childhood --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:hyperthermia in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  126. en:incomplete penetrance --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  127. en:incomplete penetrance with 45 to 51 repeats --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  128. en:increased risk of early death --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  129. en:infections may precipitate ketotic episodes --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:infections may precipitate ketotic episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  130. en:lifelong occurrence --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:lifelong occurrence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  131. en:lower limb involvement occurs before upper limb involvement --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:lower limb involvement occurs before upper limb involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  132. en:lower limb weakness is presenting feature --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:lower limb weakness is presenting feature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  133. en:majority of patients are stillborn or die before 5 months of age --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  134. en:majority of patients die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  135. en:marked heterogeneity --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:marked heterogeneity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  136. en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  137. en:mean age of onset 30 years (range 25-42) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 30 years (range 25-42) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  138. en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  139. en:mean survival 5 months --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:mean survival 5 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  140. en:midline defects --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:midline defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  141. en:milder form with onset in childhood, absence seizures, and learning difficulties --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  142. en:one patient has been reported (last curated august 2015) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  143. en:patients may die in infancy or childhood due to respiratory failure --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  144. en:penetrance estimated to be 80% --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:penetrance estimated to be 80% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  145. en:recurrent episodes of liver failure during intercurrent infections --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  146. en:symptoms present from infancy or early childhood --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms present from infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  147. en:three unrelated patients have been reported (last curated december 2015) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  148. en:two sibs have been reported (last curated november 2015) --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs have been reported (last curated november 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  149. en:variable severity of clinical and radiologic manifestations --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity of clinical and radiologic manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  150. en:weakness during pregnancy in some affected females has been reported --- r_associated #0: 34 --> en:one patient reported (last curated november 2012)
    n1=en:weakness during pregnancy in some affected females has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  151. en:adult onset has been reported --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  152. en:affected individuals have a relatively mild ichthyosis phenotype --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  153. en:age at onset 8 to 55 years (mean 40 years) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  154. en:all cases sporadic (18 males, 7 females) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:all cases sporadic (18 males, 7 females) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  155. en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  156. en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  157. en:allelic to metaphyseal dysplasia without hypotrichosis (250460) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  158. en:associated with advanced paternal age --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:associated with advanced paternal age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  159. en:autosomal recessive form (277720) has also been described --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive form (277720) has also been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  160. en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  161. en:based on report of 2 individuals (last curated november 2013) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  162. en:based on report of 4 patients from 1 family (last curated july 2015) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  163. en:blisters are precipitated by minor skin trauma --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:blisters are precipitated by minor skin trauma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  164. en:both autosomal dominant and autosomal recessive inheritance has been described --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  165. en:cardiomyopathy is not a feature --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:cardiomyopathy is not a feature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  166. en:coloboma is associated with larger microdeletion (490kb) of 11q13 --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  167. en:diarrhea worsens in parallel with increases in severity of skin disease --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  168. en:discordant phenotype among monozygotic twins has been reported --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  169. en:distinct from pseudopili annulati (613241) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:distinct from pseudopili annulati (613241) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  170. en:diurnal fluctuation of neurologic symptoms --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:diurnal fluctuation of neurologic symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  171. en:early death may occur --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:early death may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  172. en:early death occurs in affected infants (days to months after disease onset) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  173. en:elevated body temperatures to 42 degrees celsius --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:elevated body temperatures to 42 degrees celsius | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  174. en:episodes last from several hours to days --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:episodes last from several hours to days | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  175. en:extrapyramidal signs show a favorable response to levodopa --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  176. en:facial palsy often transient in infancy --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:facial palsy often transient in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  177. en:family a had a severe multisystem disorder resulting in death before age 2 years --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  178. en:favorable response to ephedrine treatment --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to ephedrine treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  179. en:females often show milder phenotype with later onset of cardiac symptoms --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  180. en:gastric suction pump, home model, portable or stationary, electric --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  181. en:hepatic failure develops in first months of life --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:hepatic failure develops in first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  182. en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  183. en:heterozygous females may have situs inversus or other midline defects --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  184. en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  185. en:highly variable phenotype, some adults may be asymptomatic --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  186. en:incidence of 1 in 57,000 --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 57,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  187. en:increased male to female ratio (7.5:1) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:increased male to female ratio (7.5:1) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  188. en:infants may have acute life-threatening crises --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:infants may have acute life-threatening crises | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  189. en:insidious onset --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:insidious onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  190. en:intermediate expression in females --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:intermediate expression in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  191. en:intermittent exacerbations --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:intermittent exacerbations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  192. en:leg pain during childhood --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:leg pain during childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  193. en:liveborn often die within first week of life --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:liveborn often die within first week of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  194. en:long headache duration (greater than 12 hours) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:long headache duration (greater than 12 hours) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  195. en:loss of ambulation --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:loss of ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  196. en:majority of children die before age 2 --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:majority of children die before age 2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  197. en:male to female ratio 4:1 --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:male to female ratio 4:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  198. en:may have seasonal variance in severity --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:may have seasonal variance in severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  199. en:may occur in adults (also in pregnancy) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:may occur in adults (also in pregnancy) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  200. en:mean age at onset 24 years (range 14 to 33 years) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  201. en:mean age at onset 33 years (range 20-60) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 33 years (range 20-60) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  202. en:mean age at onset 57-60 years --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 57-60 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  203. en:mean age at onset of dementia is 57 years --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of dementia is 57 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  204. en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  205. en:medullary thyroid cancer is aggressive and can occur in childhood --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  206. en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  207. en:onset in first decade (as early as infancy in some) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade (as early as infancy in some) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  208. en:precipitation by pregnancy --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:precipitation by pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  209. en:three fetuses from 1 family have been reported (last curated august 2015) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  210. en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) --- r_associated #0: 32 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  211. en:affected individuals may have more than 1 cardiac structural defect, or none at all --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  212. en:based on one sib pair each in their seventies --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:based on one sib pair each in their seventies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  213. en:boys are more often affected than girls (3:2) --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:boys are more often affected than girls (3:2) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  214. en:clinical and biochemical abnormalities disappear with age --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:clinical and biochemical abnormalities disappear with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  215. en:congenital onset --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:congenital onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  216. en:estimated frequency 1/2000-1/4000 individuals --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  217. en:excessive postsurgical blood loss --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:excessive postsurgical blood loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  218. en:four patients from 3 families have been reported (last curated march 2016) --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  219. en:frequency of infections decreases after 3 years of age --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:frequency of infections decreases after 3 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  220. en:hearing loss occurs later if at all --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss occurs later if at all | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  221. en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  222. en:heterozygous females more mildly affected than hemizygous males --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  223. en:highly variable phenotype, ranging from asymptomatic to severe --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  224. en:homozygotes have more severe disease with earlier onset of thrombosis --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  225. en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  226. en:hyperkeratosis often present at birth but may appear later --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:hyperkeratosis often present at birth but may appear later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  227. en:in the absence of hydrops, death occurs within 3 months --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  228. en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  229. en:incidence of 1 in 10,000 to 1 in 20,000 --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  230. en:incidence of 1 in 100,000 to 125,000 at birth --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  231. en:incidence ranges from 1 in 40,000 to 1 in 350,000 births --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  232. en:increased paternal age --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:increased paternal age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  233. en:increased recurrence risk with parental translocation --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:increased recurrence risk with parental translocation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  234. en:infantile onset --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:infantile onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  235. en:infantile, late-infantile, juvenile, and adult onset have been reported --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  236. en:infants are stillborn or die shortly after birth --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:infants are stillborn or die shortly after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  237. en:joint laxity decreases with age --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:joint laxity decreases with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  238. en:later onset can also occur (up to age 17 years) --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:later onset can also occur (up to age 17 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  239. en:left side involvement more frequent than right side involvement --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:left side involvement more frequent than right side involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  240. en:length of attack, 3 to 7 days --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:length of attack, 3 to 7 days | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  241. en:levodopa-induced dyskinesias --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:levodopa-induced dyskinesias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  242. en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  243. en:liver size returns to normal after 3 months to 3 years --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:liver size returns to normal after 3 months to 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  244. en:madelung deformity more frequent and more severe in females --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:madelung deformity more frequent and more severe in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  245. en:male-to-female ratio, 1.8 to 1 --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:male-to-female ratio, 1.8 to 1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  246. en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  247. en:many adults with typical form remain ambulatory --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:many adults with typical form remain ambulatory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  248. en:maternal imprinting --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:maternal imprinting | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  249. en:may be due to imprinting defect --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:may be due to imprinting defect | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  250. en:may be lethal in the neonatal period --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:may be lethal in the neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  251. en:may regress --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:may regress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  252. en:mean age at diagnosis 8.8 years (range 0.2-23 years) --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  253. en:mean age of onset 35-40 years --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 35-40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  254. en:mean age of onset in third decade --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset in third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  255. en:median age of onset of pigmentation - 8 years (range 1-15 years) --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  256. en:median onset of neurologic symptoms is 13 years (range 5 to 28) --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  257. en:median survival is > 50 years --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:median survival is > 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  258. en:most patients become wheelchair-bound in the second or third decades --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  259. en:nine patients have been reported (last curated july 2015) --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:nine patients have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  260. en:no extraocular findings --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:no extraocular findings | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  261. en:onset of lymphedema around puberty --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:onset of lymphedema around puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  262. en:onset of night blindness varies among patients from early childhood to mid thirties --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  263. en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  264. en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  265. en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  266. en:quinidine therapy may be effective --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:quinidine therapy may be effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  267. en:surviving males are postzygotic mosaic for ebp mutations --- r_associated #0: 31 --> en:one patient reported (last curated november 2012)
    n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  268. en:adult onset (20 to 50 years) --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (20 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  269. en:age of onset varies ranging from 3 weeks to 22 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  270. en:age of onset/diagnosis 12-35 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset/diagnosis 12-35 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  271. en:approximately 70-80% of cases are de novo and sporadic --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  272. en:average age at diagnosis 17.8 years (range 2-35 years) --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  273. en:average disease duration of 7 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:average disease duration of 7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  274. en:based on report of 2 sibs in 2008 --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 sibs in 2008 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  275. en:carrier females may have mild intellectual disability --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females may have mild intellectual disability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  276. en:carrier females show no phenotypic abnormalities, but may have learning difficulties --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  277. en:compound heterozygosity common --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:compound heterozygosity common | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  278. en:deafness tends to occur before other neurologic signs, except in patients with very early onset --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  279. en:death from pneumonia --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:death from pneumonia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  280. en:death secondary to respiratory infection or failure before age 2 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  281. en:death usually in childhood --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  282. en:death usually in first year of life --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  283. en:disease shows slow progression --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:disease shows slow progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  284. en:eye involvement begins at birth, neurologic involvement begins later --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  285. en:fatal before age 2 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:fatal before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  286. en:female carriers may be affected --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may be affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  287. en:four unrelated families have been reported (last curated august 2015) --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  288. en:fracture frequency decreased post puberty --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:fracture frequency decreased post puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  289. en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  290. en:genetic heterogeneity (see 116800 for summary) --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  291. en:genetic heterogeneity (see 161800) --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 161800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  292. en:high risk of recurrence after surgery --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:high risk of recurrence after surgery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  293. en:highly variable phenotype, even within families --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype, even within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  294. en:incidence of 1 in 100,000 births --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 100,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  295. en:infantile form has onset within first 6 months of life --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:infantile form has onset within first 6 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  296. en:initial development may appear normal --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:initial development may appear normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  297. en:juvenile rigid early-onset form more often paternally inherited --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  298. en:lack of treatment results in early death --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:lack of treatment results in early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  299. en:later onset (late childhood to young adult) has been reported --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:later onset (late childhood to young adult) has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  300. en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  301. en:lesions provoked by friction, sun exposure, heat, and injury --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  302. en:lethal --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:lethal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  303. en:liver disease may be the most predominant finding --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:liver disease may be the most predominant finding | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  304. en:major fluid shifts may occur in severe cases --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:major fluid shifts may occur in severe cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  305. en:majority are isolated cases --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:majority are isolated cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  306. en:majority are stillborn or die in early neonatal period --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:majority are stillborn or die in early neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  307. en:majority of cases diagnosed at age 10-15 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases diagnosed at age 10-15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  308. en:male to female ratio is greater than 3:1 --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:male to female ratio is greater than 3:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  309. en:may not be clinically manifest until middle life --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:may not be clinically manifest until middle life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  310. en:mean age at onset 10.6 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 10.6 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  311. en:mean age at onset 28 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 28 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  312. en:mean age at onset of bone fractures, 24 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of bone fractures, 24 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  313. en:mean age at onset of proximal muscle weakness, 31 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  314. en:mean age at termination 3 to 4 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at termination 3 to 4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  315. en:median survival 5.7 years --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:median survival 5.7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  316. en:onset of visual dysfunction in early childhood --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:onset of visual dysfunction in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  317. en:pigmentation not always butterfly-shaped --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:pigmentation not always butterfly-shaped | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  318. en:skewed x-inactivation, with complete skewing in some individuals --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  319. en:some patients may show normal early development before seizure onset --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may show normal early development before seizure onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  320. létal --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=létal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  321. léthal --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=léthal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  322. rétinite pigmentaire --- r_associated #0: 30 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=30
  323. en:50% of cases represent new mutations associated with advanced paternal age --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  324. en:adrenal insufficiency usually develops later (first decade) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  325. en:adult onset --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  326. en:asymmetric muscle involvement --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:asymmetric muscle involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  327. en:average age at onset between 40 and 50 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset between 40 and 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  328. en:can also be caused by contiguous gene deletion on chromosome 22q11.2 --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  329. en:death secondary to renal failure, cardiac or cerebrovascular disease --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  330. en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  331. en:familial occurrence is rare --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:familial occurrence is rare | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  332. en:female carriers may be mildly affected --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may be mildly affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  333. en:few familial (parent offspring) cases reported --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:few familial (parent offspring) cases reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  334. en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  335. en:fractures can occur in utero, during labor and delivery, or in newborn period --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  336. en:genetic heterogeneity (see 609192) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 609192) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  337. en:hands clenched at birth but loosen in infancy --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:hands clenched at birth but loosen in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  338. en:hepatomegaly improves with age and disappears around puberty --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  339. en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  340. en:highly variable frequency and duration of episodes --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable frequency and duration of episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  341. en:highly variable phenotype and severity --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  342. en:highly variable phenotype with respect to facial dysmorphism and neurologic features --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  343. en:incidence 1-1.5/1,000 live births --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1-1.5/1,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  344. en:incidence of 1 in 39,000 --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 39,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  345. en:incidence of 1 in 5,000 to 1 in 10,000 --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  346. en:incomplete penetrance in carrier females --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance in carrier females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  347. en:incomplete penetrance in some families --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance in some families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  348. en:increased risk of myeloproliferative disorders in those with somatic mutations --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  349. en:juvenile form has onset between 4 and 19 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile form has onset between 4 and 19 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  350. en:juvenile onset 4 years to puberty --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile onset 4 years to puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  351. en:late infantile onset 6-24 months --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:late infantile onset 6-24 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  352. en:later onset of neurologic features --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:later onset of neurologic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  353. en:lethal in males --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:lethal in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  354. en:liver symptoms improve with age and disappear after puberty --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:liver symptoms improve with age and disappear after puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  355. en:majority die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  356. en:majority of children die between 6 months and 5 yrs --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:majority of children die between 6 months and 5 yrs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  357. en:males more affected than females (2 to 2.5:1) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:males more affected than females (2 to 2.5:1) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  358. en:mean age at onset 15.2 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 15.2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  359. en:mean age at onset 32 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 32 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  360. en:mean age at onset 66.8 years (range 47-77) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  361. en:mean age of onset 16 to 19 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 16 to 19 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  362. en:mean age of onset 31 years (range 5-60) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 31 years (range 5-60) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  363. en:mean age of onset 50 to 52 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 50 to 52 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  364. en:medial onset of end stage renal disease 13 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:medial onset of end stage renal disease 13 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  365. en:metabolic encephalomyopathic crises often triggered by infection --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  366. en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  367. en:seizures remit spontaneously by age 5 years --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:seizures remit spontaneously by age 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  368. en:treatment with sulfonylurea can be effective --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with sulfonylurea can be effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  369. en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  370. en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  371. rétinite pigmentaire liée à la périphérine --- r_associated #0: 29 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire liée à la périphérine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  372. en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  373. en:age at diagnosis 24 +/- 18 years for dominant disease --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  374. en:age of onset ranges from 1 to 47 years --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset ranges from 1 to 47 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  375. en:all features are unilateral --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:all features are unilateral | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  376. en:approximately 50% of patients have situs inversus --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 50% of patients have situs inversus | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  377. en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  378. en:bleeding is usually delayed-onset after challenge --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:bleeding is usually delayed-onset after challenge | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  379. en:chronic course with exacerbations and remissions --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:chronic course with exacerbations and remissions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  380. en:death before age 40 --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:death before age 40 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  381. en:death may occur in infancy --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:death may occur in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  382. en:diurnal fluctuation --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:diurnal fluctuation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  383. en:estimated incidence of 1-2 in 10,000 --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:estimated incidence of 1-2 in 10,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  384. en:gonadal and somatic mosaicism reported in parent --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:gonadal and somatic mosaicism reported in parent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  385. en:hair regrowth may occur later in life --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:hair regrowth may occur later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  386. en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  387. en:high frequency hearing loss progresses to include all frequencies --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  388. en:high frequency of levodopa-induced dyskinesias --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency of levodopa-induced dyskinesias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  389. en:high recurrence rate --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:high recurrence rate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  390. en:hip joint replacement often necessary --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:hip joint replacement often necessary | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  391. en:incidence 1 in 8,000 live births --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1 in 8,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  392. en:incidence 8/1,000 newborns --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 8/1,000 newborns | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  393. en:incidence of 1 in 1.5 million births --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 1.5 million births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  394. en:increased sensitivity to valproic acid toxicity --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:increased sensitivity to valproic acid toxicity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  395. en:infantile onset with hepatic involvement --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:infantile onset with hepatic involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  396. en:infants show normal size and appearance --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:infants show normal size and appearance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  397. en:inflammatory bowel disease may develop in childhood or adolescence --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  398. en:initial hearing loss is mild progressing to severe or profound by the seventh decade --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  399. en:internal organ rupture may occur --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:internal organ rupture may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  400. en:isolated finding --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:isolated finding | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  401. en:joint symptoms begin in third or fourth decade --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:joint symptoms begin in third or fourth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  402. en:ketogenic diet may be effective --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:ketogenic diet may be effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  403. en:late-adult onset has been reported --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:late-adult onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  404. en:later onset may occur --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:later onset may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  405. en:lesions continue to grow until epiphyseal plate closure --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  406. en:lethal in utero or perinatal lethal --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:lethal in utero or perinatal lethal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  407. en:lifetime risk of breast cancer in mutation carriers is 60 to 85% --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  408. en:majority of cases are male --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases are male | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  409. en:marked intrafamilial and interfamilial variability --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:marked intrafamilial and interfamilial variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  410. en:maternal anticipation bias --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:maternal anticipation bias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  411. en:may be progressive --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:may be progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  412. en:may progress to other body regions after many years --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:may progress to other body regions after many years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  413. en:may show good response to levodopa --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:may show good response to levodopa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  414. en:mean age at onset 22 years (range 7 to 50 years) --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  415. en:mean age at onset 35 years (range 20-60) --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 35 years (range 20-60) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  416. en:mean age at onset of cerebellar ataxia is 52.8 years --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  417. en:mean age of onset 22 years (range 5-54) --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 22 years (range 5-54) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  418. en:mean age of onset, 5 years --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset, 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  419. en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  420. en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  421. en:two families with confirmed adra2b mutations have been reported (last curated june 2015) --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  422. rétinite pigmentaire liée au sexe récessive 3 --- r_associated #0: 28 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  423. en:(3) adult nonnephropathic (219750) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:(3) adult nonnephropathic (219750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  424. en:age at onset from 3 to 51 years (mean 19.2 years) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  425. en:age of onset usually 1 week to 2 years --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset usually 1 week to 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  426. en:anemia is responsive to corticosteroid treatment --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:anemia is responsive to corticosteroid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  427. en:associated with increased frequency of autoimmune diseases --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:associated with increased frequency of autoimmune diseases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  428. en:asymptomatic patients may show changes on sd-oct --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:asymptomatic patients may show changes on sd-oct | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  429. en:average onset of seizures 6 months (range 3-12) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:average onset of seizures 6 months (range 3-12) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  430. en:child often can sit unsupported but never ambulates --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:child often can sit unsupported but never ambulates | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  431. en:classic severe form shows onset at 2 to 3 months of age --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  432. en:clinical variability, both pure and complicated forms --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:clinical variability, both pure and complicated forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  433. en:death in majority of infants soon after birth --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:death in majority of infants soon after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  434. en:death in perinatal period --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:death in perinatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  435. en:death in third or fourth decades, usually due to respiratory infection --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  436. en:deposits may recur in graft after corneal transplantation --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:deposits may recur in graft after corneal transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  437. en:earlier onset is associated with more rapid progression --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:earlier onset is associated with more rapid progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  438. en:early adult onset has been reported --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:early adult onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  439. en:early death (usually by 3 years of age) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:early death (usually by 3 years of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  440. en:early onset (9-48 years, but reported up to 68 years) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  441. en:facial dysmorphic features are mild --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:facial dysmorphic features are mild | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  442. en:first fracture in early childhood --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:first fracture in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  443. en:fractures and dental caries and premature secondary tooth loss occur in adulthood --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  444. en:great variation in extent of hypertrophy in mutation-positive individuals --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  445. en:high frequencies affected before low frequencies --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:high frequencies affected before low frequencies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  446. en:highly penetrant, but low morbidity --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:highly penetrant, but low morbidity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  447. en:highly variable organ involvement and severity --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable organ involvement and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  448. en:hypothyroidism is less severe in individuals with high dietary iodine intake --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  449. en:immunologic defects are variable --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:immunologic defects are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  450. en:in severe attacks, hemiplegia or coma may last days to weeks --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  451. en:incidence of 1 in 120,000 live births --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 120,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  452. en:increased susceptibility to multiple carcinomas --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:increased susceptibility to multiple carcinomas | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  453. en:intrafamilial phenotypic variation may occur --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial phenotypic variation may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  454. en:itch, pain, and body malodor often --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:itch, pain, and body malodor often | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  455. en:lesions apparent at birth --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:lesions apparent at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  456. en:less than 20% have onset at 18 years of age or less (dominant and recessive) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  457. en:limb malformations are variable --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:limb malformations are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  458. en:live born infants die within few hours of birth --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:live born infants die within few hours of birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  459. en:male predominance of 3:1 to 5:1 --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:male predominance of 3:1 to 5:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  460. en:males tend to have earlier onset than females --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:males tend to have earlier onset than females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  461. en:may be precipitated by minor illness (e.g., viral infection, fever) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  462. en:mean age at onset 46.5 years (range 19-64) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  463. en:mean age at onset of migraines is 42 years --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of migraines is 42 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  464. en:mean age of onset about 62 years (45-79 years) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset about 62 years (45-79 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  465. en:no consistent dysmorphic facial phenotype --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:no consistent dysmorphic facial phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  466. en:onset in first decade after normal early development --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade after normal early development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  467. en:relatively mild phenotype --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:relatively mild phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  468. en:therapy is placement of implantable cardioverter defibrillator (icd) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  469. rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  470. rétinite pigmentaire, surdité, retard mental, et hypogonadisme --- r_associated #0: 27 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  471. en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  472. en:approximately 40% of cases are inherited or new germline mutations --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  473. en:associated with hemodialysis --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:associated with hemodialysis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  474. en:associated with smoking --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:associated with smoking | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  475. en:autosomal recessive disorder tends to be more severe --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive disorder tends to be more severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  476. en:based on one large dutch family (last curated august 2015) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:based on one large dutch family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  477. en:both mutations occurred de novo --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:both mutations occurred de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  478. en:contractures other than plantar are less common and less severe --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:contractures other than plantar are less common and less severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  479. en:death in fourth to fifth decade --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:death in fourth to fifth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  480. en:death in infancy in 2 patients --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy in 2 patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  481. en:earlier onset is associated with a more severe disorder --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:earlier onset is associated with a more severe disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  482. en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  483. en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  484. en:four unrelated families have been reported (last curated september 2015) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  485. en:full recovery after attacks --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:full recovery after attacks | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  486. en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  487. en:heterozygous mutation carriers may have late-onset of mild symptoms --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  488. en:late-adult onset (fifth to sixth decade) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:late-adult onset (fifth to sixth decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  489. en:late-onset, slowly progressing form of retinitis pigmentosa --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  490. en:majority of patients have normal intelligence --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:majority of patients have normal intelligence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  491. en:males are most severely affected, but females can also be affected --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:males are most severely affected, but females can also be affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  492. en:males may be more affected than females --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:males may be more affected than females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  493. en:marked clinical variability within families --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:marked clinical variability within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  494. en:marked intrafamilial variability of clinical features --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:marked intrafamilial variability of clinical features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  495. en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  496. en:mean age of onset 20.6 years --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 20.6 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  497. en:median age at diagnosis, 59 years --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:median age at diagnosis, 59 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  498. en:median age at onset 23 years --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:median age at onset 23 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  499. en:median age of onset of nail dystrophy - 7 years (range 1-6 years) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  500. en:mesomelia becomes more evident with age --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:mesomelia becomes more evident with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  501. en:one family and 2 unrelated patients have been reported (last curated december 2015) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  502. en:one lebanese family has been reported --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:one lebanese family has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  503. en:onset of overgrowth in the first year of life (in most cases) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  504. en:three unrelated families have been reported (last curated october 2015) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  505. en:two unrelated consanguineous families have been reported (last curated july 2015) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  506. en:two unrelated families have been reported (last curated june 2015) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  507. en:two unrelated patients have been reported (last curated august 2015) --- r_associated #0: 26 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  508. rétinite pigmentaire liée à la périphérine (pro219leu) --- r_associated #0: 25 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=25
  509. rétinite pigmentaire liée à la rhodopsine --- r_associated #0: 25 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire liée à la rhodopsine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=25
  510. rétinite pigmentaire et retard mental --- r_associated #0: 24 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire et retard mental | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=24
  511. létale --- r_associated #0: 23 --> en:one patient reported (last curated november 2012)
    n1=létale | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=23
  512. rétinite pigmentaire sénile --- r_associated #0: 21 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire sénile | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=21
  513. rétinopathie pigmentaire --- r_associated #0: 21 --> en:one patient reported (last curated november 2012)
    n1=rétinopathie pigmentaire | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=21
  514. en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  515. en:'second wind' phenomenon --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:'second wind' phenomenon | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  516. en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  517. en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  518. en:'variant' form of x-linked cgd retains residual cytochrome b(-245) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  519. en:(1) classic severe (onset of symptoms 4 to 7 days of age) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  520. en:(1) infantile nephropathic (219800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:(1) infantile nephropathic (219800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  521. en:(2) intermittent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:(2) intermittent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  522. en:(2) juvenile or adolescent nephropathic (219900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:(2) juvenile or adolescent nephropathic (219900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  523. en:(3) intermediate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:(3) intermediate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  524. en:(4) thiamine-responsive form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:(4) thiamine-responsive form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  525. en:(5) dihydrolipoyl dehydrogenase (e3)-deficient --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  526. en:1 in 17,000 in china --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:1 in 17,000 in china | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  527. en:1 in 19,000 in japan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:1 in 19,000 in japan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  528. en:1 in 50,000 in korea --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:1 in 50,000 in korea | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  529. en:1 patient reported (last curated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:1 patient reported (last curated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  530. en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  531. en:10% due to paternal deletion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:10% due to paternal deletion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  532. en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  533. en:12% due to epimutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:12% due to epimutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  534. en:13% of cases secondary to familial translocation (often maternally derived) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:13% of cases secondary to familial translocation (often maternally derived) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  535. en:14 patients in 8 recessive kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:14 patients in 8 recessive kindreds reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  536. en:14% of patients survive with polyhydramnios --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:14% of patients survive with polyhydramnios | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  537. en:15 patients from 5 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:15 patients from 5 kindreds reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  538. en:15% cases are familial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:15% cases are familial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  539. en:2 patients described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:2 patients described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  540. en:2% due to paternal uniparental disomy of 15q11.2-q13 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:2% due to paternal uniparental disomy of 15q11.2-q13 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  541. en:2-3% due to imprinting defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:2-3% due to imprinting defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  542. en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  543. en:20% die before age one (usually secondary to renal or laryngeal defects) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:20% die before age one (usually secondary to renal or laryngeal defects) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  544. en:20-40% patients are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:20-40% patients are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  545. en:21 patients from 17 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:21 patients from 17 kindreds reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  546. en:21% of hereditary wilms tumor are bilateral --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:21% of hereditary wilms tumor are bilateral | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  547. en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  548. en:23 patients from 2 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:23 patients from 2 kindreds reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  549. en:25% due to mutations in ube3a (601623) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:25% due to mutations in ube3a (601623) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  550. en:2:1 female preponderance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:2:1 female preponderance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  551. en:3 reported cases, 1 pedigree of affected sibs, neither parent affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  552. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  553. en:35% of patients have facial dysmorphism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:35% of patients have facial dysmorphism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  554. en:40 patients in 16 dominant kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:40 patients in 16 dominant kindreds reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  555. en:40% patients have associated abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:40% patients have associated abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  556. en:46,xx carriers are unaffected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:46,xx carriers are unaffected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  557. en:46,xy carriers are unaffected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:46,xy carriers are unaffected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  558. en:5-10% of all wilms tumor are bilateral --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:5-10% of all wilms tumor are bilateral | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  559. en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  560. en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  561. en:50% of cases are de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:50% of cases are de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  562. en:50% of females have learning disability or mild mental retardation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:50% of females have learning disability or mild mental retardation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  563. en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  564. en:7 unrelated patients have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:7 unrelated patients have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  565. en:70% due to de novo maternal deletion of 15q11.2-q13 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:70% due to de novo maternal deletion of 15q11.2-q13 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  566. en:75% of affected individuals are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:75% of affected individuals are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  567. en:78% due to chromosome 14 maternal uniparental disomy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:78% due to chromosome 14 maternal uniparental disomy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  568. en:80% cases new mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:80% cases new mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  569. en:85-90% with manifestations in first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:85-90% with manifestations in first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  570. en:87% patients are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:87% patients are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  571. en:94% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:94% develop hypertension at 18 years of age or less | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  572. en:95% of cases are sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:95% of cases are sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  573. en:98% of finnish cases due to one mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:98% of finnish cases due to one mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  574. en:99+% of the mutations are fgfr3, g380r (134934.0001) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:99+% of the mutations are fgfr3, g380r (134934.0001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  575. en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  576. en:a minority of patients have onset after age 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a minority of patients have onset after age 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  577. en:a mutation in the cxorf5 gene has been reported in 1 affected family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a mutation in the cxorf5 gene has been reported in 1 affected family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  578. en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  579. en:a nonspecific marker of somatic mosaicism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a nonspecific marker of somatic mosaicism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  580. en:a pair of monozygotic twins have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a pair of monozygotic twins have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  581. en:a second family had mild intellectual disability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a second family had mild intellectual disability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  582. en:a second patient died at age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a second patient died at age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  583. en:a severe infantile variant has been rarely reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a severe infantile variant has been rarely reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  584. en:a subgroup of patients with sponastrime dysplasia have severe mental retardation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  585. en:a subset of patients are responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a subset of patients are responsive to vitamin b12 therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  586. en:a subset of patients have a 'visual variant' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a subset of patients have a 'visual variant' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  587. 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:one patient reported (last curated november 2012)
    n1=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  588. en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  589. en:a subset of patients have heterozygous mutations, which may predispose to disease development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a subset of patients have heterozygous mutations, which may predispose to disease development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  590. en:a subset of patients improve with thiamine --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a subset of patients improve with thiamine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  591. en:a subset of patients may have congenital abnormalities of the ocular anterior segment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  592. en:a wnt3 mutation has been identified in 1 affected family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:a wnt3 mutation has been identified in 1 affected family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  593. en:abnormal morphogenesis of first and second branchial arches --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:abnormal morphogenesis of first and second branchial arches | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  594. en:abnormal transferrin pattern tends to improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:abnormal transferrin pattern tends to improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  595. en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  596. en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  597. en:about 10% of patients have a severe early onset in the first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 10% of patients have a severe early onset in the first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  598. en:about 15% of female carriers develop renal insufficiency in the second or third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 15% of female carriers develop renal insufficiency in the second or third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  599. en:about 25% of cases due to new mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 25% of cases due to new mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  600. en:about 5% of patients have a history of febrile seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 5% of patients have a history of febrile seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  601. en:about 50% of mutation carriers are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 50% of mutation carriers are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  602. en:about 50% of patients become wheelchair-bound at an average age of 37 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 50% of patients become wheelchair-bound at an average age of 37 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  603. en:about 50% of patients have intellectual disability and/or hydrocephalus --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 50% of patients have intellectual disability and/or hydrocephalus | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  604. en:about 8% of female mutation carriers develop dilated cardiomyopathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about 8% of female mutation carriers develop dilated cardiomyopathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  605. en:about a dozen patients have been reported (as of march 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about a dozen patients have been reported (as of march 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  606. en:about half of individuals are asymptomatic and identified by newborn screening programs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about half of individuals are asymptomatic and identified by newborn screening programs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  607. en:about half of patients become wheelchair bound after long duration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about half of patients become wheelchair bound after long duration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  608. en:about half of patients report vestibular symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about half of patients report vestibular symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  609. en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  610. en:absence of both inner and outer dynein arms of cilia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:absence of both inner and outer dynein arms of cilia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  611. en:absence of premature birth, low birthweight, and exposure to oxygen --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:absence of premature birth, low birthweight, and exposure to oxygen | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  612. en:absence seizures usually remit by puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:absence seizures usually remit by puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  613. en:acanthosis nigricans fades during adolescence and reappears in pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  614. en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  615. en:accounts for 1-2% of lymphomas in adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accounts for 1-2% of lymphomas in adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  616. en:accounts for 30-50% of lymphomas in children --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accounts for 30-50% of lymphomas in children | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  617. en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  618. en:accounts for 5-15% of childhood epilepsies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accounts for 5-15% of childhood epilepsies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  619. en:accounts for 70% of all usher syndrome patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accounts for 70% of all usher syndrome patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  620. en:accounts for <2% of patients with alzheimer's disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accounts for <2% of patients with alzheimer's disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  621. en:accounts for approximately 5% of the epilepsies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:accounts for approximately 5% of the epilepsies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  622. en:acetazolamide is often effective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acetazolamide is often effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  623. en:acetazolamide may benefit attacks of vertigo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acetazolamide may benefit attacks of vertigo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  624. en:acquired autoimmune disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acquired autoimmune disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  625. en:acquired disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acquired disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  626. en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  627. en:acquired protein c deficiency seen in liver disease, dic, and following surgery --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  628. en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  629. en:acquired sporadic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acquired sporadic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  630. en:acral form of skin peeling limited to hands and feet (609796) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acral form of skin peeling limited to hands and feet (609796) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  631. en:acral hemorrhagic variant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acral hemorrhagic variant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  632. en:acute attacks lasting 24-48 hours --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acute attacks lasting 24-48 hours | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  633. en:acute attacks rarely occur before puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acute attacks rarely occur before puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  634. en:acute encephalopathic episodes may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acute encephalopathic episodes may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  635. en:acute episodes decrease with age and disappear --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acute episodes decrease with age and disappear | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  636. en:acute neurologic deterioration after viral illness has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:acute neurologic deterioration after viral illness has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  637. en:adams-stokes syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adams-stokes syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  638. en:additional developmental abnormalities may be seen in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:additional developmental abnormalities may be seen in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  639. en:additional features are variably present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:additional features are variably present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  640. en:adolescent or adult onset associated with neuropsychiatric symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adolescent or adult onset associated with neuropsychiatric symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  641. en:adult form is asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult form is asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  642. en:adult form onset has after 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult form onset has after 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  643. en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  644. en:adult onset (18 to 60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (18 to 60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  645. en:adult onset (20 to 40 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (20 to 40 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  646. en:adult onset (25-45 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (25-45 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  647. en:adult onset (27 to 48 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (27 to 48 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  648. en:adult onset (37 to 57 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (37 to 57 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  649. en:adult onset (40 to 60 years old) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (40 to 60 years old) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  650. en:adult onset (45 to 76 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (45 to 76 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  651. en:adult onset (after age 35 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (after age 35 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  652. en:adult onset (before 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (before 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  653. en:adult onset (mean 27 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (mean 27 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  654. en:adult onset (mean 30 years, range 10-65 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (mean 30 years, range 10-65 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  655. en:adult onset (mean 30 years, range 5-60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (mean 30 years, range 5-60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  656. en:adult onset (mean 60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (mean 60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  657. en:adult onset (mean age 37 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (mean age 37 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  658. en:adult onset (mean of 30 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (mean of 30 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  659. en:adult onset (mid-forties) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (mid-forties) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  660. en:adult onset (range 12 to 59 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 12 to 59 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  661. en:adult onset (range 14 to 70 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 14 to 70 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  662. en:adult onset (range 15 to 53 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 15 to 53 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  663. en:adult onset (range 19 to 48 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 19 to 48 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  664. en:adult onset (range 28 to 55 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 28 to 55 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  665. en:adult onset (range 30 to 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 30 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  666. en:adult onset (range 34 to 66 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 34 to 66 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  667. en:adult onset (range 40 to 60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 40 to 60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  668. en:adult onset (range 45 to 70 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (range 45 to 70 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  669. en:adult onset (second to sixth decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (second to sixth decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  670. en:adult onset (sixth decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (sixth decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  671. en:adult onset (third decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (third decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  672. en:adult onset (thirties to forties) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset (thirties to forties) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  673. en:adult onset - 100-1,000 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset - 100-1,000 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  674. en:adult onset after puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset after puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  675. en:adult onset form usually presents with psychiatric manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset form usually presents with psychiatric manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  676. en:adult onset from second to seventh decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset from second to seventh decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  677. en:adult onset has been rarely reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset has been rarely reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  678. en:adult onset has been reported (age 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset has been reported (age 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  679. en:adult onset may also occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset may also occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  680. en:adult onset may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  681. en:adult onset of gait abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset of gait abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  682. en:adult onset of muscle symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset of muscle symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  683. en:adult onset of neurologic symptoms (range 30 to 46 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset of neurologic symptoms (range 30 to 46 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  684. en:adult onset of neurologic symptoms has been reported in 1 family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset of neurologic symptoms has been reported in 1 family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  685. en:adult onset of symptoms has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset of symptoms has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  686. en:adult onset rarely reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset rarely reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  687. en:adult onset, usually 30's to 40's, but up to early 60's --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult onset, usually 30's to 40's, but up to early 60's | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  688. en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  689. en:adult-onset (range early twenties to forties) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult-onset (range early twenties to forties) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  690. en:adult-onset in third to fourth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult-onset in third to fourth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  691. en:adult-onset is referred to as small fiber neuropathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adult-onset is referred to as small fiber neuropathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  692. en:adults may be asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adults may be asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  693. en:adults may lose ability to walk --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:adults may lose ability to walk | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  694. en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  695. en:affected females are infertile --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected females are infertile | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  696. en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  697. en:affected females have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected females have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  698. en:affected females may have increased spontaneous abortions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected females may have increased spontaneous abortions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  699. en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  700. en:affected fetuses frequently undergo spontaneous abortion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected fetuses frequently undergo spontaneous abortion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  701. en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  702. en:affected individuals are highly prone to burn-related injuries --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals are highly prone to burn-related injuries | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  703. en:affected individuals are negative for dermatographism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals are negative for dermatographism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  704. en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  705. en:affected individuals die soon after birth due to respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals die soon after birth due to respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  706. en:affected individuals have amnesia for events --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals have amnesia for events | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  707. en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  708. en:affected individuals may have biallelic or heterozygous mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals may have biallelic or heterozygous mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  709. en:affected individuals may have learning or behavioral problems during the period when seizures occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals may have learning or behavioral problems during the period when seizures occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  710. en:affected individuals remain ambulatory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals remain ambulatory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  711. en:affected individuals remain ambulatory in old age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected individuals remain ambulatory in old age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  712. en:affected infants appear normal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected infants appear normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  713. en:affected infants appear normal at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected infants appear normal at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  714. en:affected infants die in neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected infants die in neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  715. en:affected infants often die in utero or in the postnatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected infants often die in utero or in the postnatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  716. en:affected males are all result of new mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males are all result of new mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  717. en:affected males are infertile, whereas affected females have recurrent pregnancy loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  718. en:affected males are somatic mosaic for mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males are somatic mosaic for mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  719. en:affected males have normal pubertal development and are fertile --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males have normal pubertal development and are fertile | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  720. en:affected males have onset of poor vision before the age of 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males have onset of poor vision before the age of 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  721. en:affected males have serotonin-related disorders such as migraine headaches and diabetes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  722. en:affected males show onset of hematuria in first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males show onset of hematuria in first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  723. en:affected males who survive are secondary to new mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected males who survive are secondary to new mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  724. en:affected patients have various combinations of the main clinical features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected patients have various combinations of the main clinical features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  725. en:affected, mild - 50-150 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affected, mild - 50-150 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  726. en:affects 1 in 250,000 to 1 million people worldwide --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affects 1 in 250,000 to 1 million people worldwide | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  727. en:affects 1 to 3% of the population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affects 1 to 3% of the population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  728. en:affects between 1 in 200 to 1 in 400 individuals of northern european descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  729. en:affects up to 10% of the population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affects up to 10% of the population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  730. en:affects up to 10% of women in their reproductive years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:affects up to 10% of women in their reproductive years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  731. en:age at death:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at death:time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  732. en:age at diagnosis 2-4 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at diagnosis 2-4 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  733. en:age at diagnosis 26 +/- 14 years for recessive disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at diagnosis 26 +/- 14 years for recessive disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  734. en:age at diagnosis 28 +/- 18 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at diagnosis 28 +/- 18 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  735. en:age at diagnosis 36 +/- 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at diagnosis 36 +/- 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  736. en:age at diagnosis 9 +/- 6 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at diagnosis 9 +/- 6 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  737. en:age at diagnosis of cataract may range up to 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at diagnosis of cataract may range up to 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  738. en:age at first pregnancy:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at first pregnancy:time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  739. en:age at menarche:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at menarche:time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  740. en:age at menopause:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at menopause:time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  741. en:age at onset 15 to 25 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset 15 to 25 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  742. en:age at onset 15 to 33 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset 15 to 33 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  743. en:age at onset 3 to 23 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset 3 to 23 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  744. en:age at onset can range from infancy to childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset can range from infancy to childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  745. en:age at onset in females ranges from childhood to the fourth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset in females ranges from childhood to the fourth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  746. en:age at onset in males ranges from 3 to 7 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset in males ranges from 3 to 7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  747. en:age at onset most often in childhood (first decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset most often in childhood (first decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  748. en:age at onset ranges from 16 years to 65 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset ranges from 16 years to 65 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  749. en:age at onset ranges from 50 to 70 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset ranges from 50 to 70 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  750. en:age at onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset ranges from childhood to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  751. en:age at onset ranges from early childhood to after age 50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset ranges from early childhood to after age 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  752. en:age at onset ranges from first to sixth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset ranges from first to sixth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  753. en:age at onset ranges from neonatal to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age at onset ranges from neonatal to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  754. en:age of onset - birth to 15 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset - birth to 15 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  755. en:age of onset 1 to 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 1 to 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  756. en:age of onset 17 to 68 years (mean 39) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 17 to 68 years (mean 39) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  757. en:age of onset 2-8 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 2-8 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  758. en:age of onset 20-65 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 20-65 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  759. en:age of onset 23-59 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 23-59 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  760. en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  761. en:age of onset 28 to 70 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 28 to 70 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  762. en:age of onset 30 to 60 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 30 to 60 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  763. en:age of onset 36 to 55 years (mean 47) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 36 to 55 years (mean 47) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  764. en:age of onset 43-64 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 43-64 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  765. en:age of onset 5 to 19 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 5 to 19 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  766. en:age of onset 5 to 22 years (mean 6.9) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 5 to 22 years (mean 6.9) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  767. en:age of onset 5 to 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 5 to 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  768. en:age of onset 6-12 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset 6-12 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  769. en:age of onset between 20 to 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset between 20 to 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  770. en:age of onset between 6 and 45 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset between 6 and 45 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  771. en:age of onset between 6 to 10 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset between 6 to 10 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  772. en:age of onset from 10 to 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset from 10 to 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  773. en:age of onset from 18 to 45 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset from 18 to 45 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  774. en:age of onset from third to sixth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset from third to sixth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  775. en:age of onset of upper limb involvement 10-43 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset of upper limb involvement 10-43 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  776. en:age of onset ranges from infancy to young adulthood (6 months-19 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  777. en:age of onset ranges from neonate to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset ranges from neonate to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  778. en:age of onset third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  779. en:age of onset varies (7 to 28 years of age) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset varies (7 to 28 years of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  780. en:age of onset varies between 18 years and 53 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset varies between 18 years and 53 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  781. en:age of onset varies from 5-32 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset varies from 5-32 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  782. en:age of onset within the first years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset within the first years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  783. en:age of onset, 6-20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age of onset, 6-20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  784. en:age on onset - adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age on onset - adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  785. en:age-dependent penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age-dependent penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  786. en:age-related clinical course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age-related clinical course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  787. en:age:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age:time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  788. en:age:time:pt:^egg donor:qn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age:time:pt:^egg donor:qn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  789. en:age:time:pt:^patient:qn:calculated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age:time:pt:^patient:qn:calculated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  790. en:age:time:pt:^patient:qn:estimated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age:time:pt:^patient:qn:estimated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  791. en:age:time:pt:^patient:qn:reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:age:time:pt:^patient:qn:reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  792. en:aggravated by physical activity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:aggravated by physical activity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  793. en:aggressive malignancies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:aggressive malignancies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  794. en:alcohol may alleviate symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:alcohol may alleviate symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  795. en:all affected individuals have been stillborn or died in the neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all affected individuals have been stillborn or died in the neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  796. en:all cases are de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases are de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  797. en:all cases due to de novo mutation (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases due to de novo mutation (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  798. en:all cases from a remote village, sabinas, in northern mexico --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases from a remote village, sabinas, in northern mexico | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  799. en:all cases have been sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases have been sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  800. en:all cases have been stillborn or immediate neonatal death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases have been stillborn or immediate neonatal death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  801. en:all cases occur in a jewish religious isolate originally from cochin, india --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases occur in a jewish religious isolate originally from cochin, india | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  802. en:all cases occur in old order amish, lancaster county, pennsylvania --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases occur in old order amish, lancaster county, pennsylvania | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  803. en:all cases presumed de novo mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all cases presumed de novo mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  804. en:all de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  805. en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  806. en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  807. en:all patients have duplication of at least the crebbp gene (600140) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all patients have duplication of at least the crebbp gene (600140) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  808. en:all patients have severe hearing loss 10 to 15 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all patients have severe hearing loss 10 to 15 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  809. en:all reported cases have de novo mutations (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all reported cases have de novo mutations (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  810. en:all reported cases have occurred de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all reported cases have occurred de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  811. en:all reported cases have occurred sporadically --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all reported cases have occurred sporadically | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  812. en:all reported cases have resulted from de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all reported cases have resulted from de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  813. en:all reported cases result from de novo mutation (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all reported cases result from de novo mutation (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  814. en:all reported mutations have occurred de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all reported mutations have occurred de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  815. en:all reported patients are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:all reported patients are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  816. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  817. en:allelic disorder is brugada syndrome (601144) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder is brugada syndrome (601144) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  818. en:allelic disorder is long qt syndrome-3 (lqt3, 603830) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  819. en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  820. en:allelic disorder to adult polyglucosan body disease (263570) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to adult polyglucosan body disease (263570) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  821. en:allelic disorder to androgen insensitivity syndrome (ais, 300068) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  822. en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  823. en:allelic disorder to autosomal dominant form (129490) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal dominant form (129490) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  824. en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  825. en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  826. en:allelic disorder to autosomal dominant spg13 (605280) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal dominant spg13 (605280) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  827. en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  828. en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  829. en:allelic disorder to autosomal recessive form (224900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal recessive form (224900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  830. en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  831. en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  832. en:allelic disorder to brachydactyly type b (113000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to brachydactyly type b (113000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  833. en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  834. en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  835. en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  836. en:allelic disorder to charcot-marie-tooth disease type 1a (118220) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  837. en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  838. 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:one patient reported (last curated november 2012)
    n1=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  839. en:allelic disorder to child syndrome (308050) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to child syndrome (308050) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  840. en:allelic disorder to cln8 (600143) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to cln8 (600143) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  841. en:allelic disorder to cmt4a (214400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to cmt4a (214400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  842. en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  843. en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  844. en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  845. 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:one patient reported (last curated november 2012)
    n1=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  846. en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  847. en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  848. en:allelic disorder to duane-radial ray syndrome (drrs, 607323) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  849. en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  850. en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  851. en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  852. en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  853. en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  854. en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  855. en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  856. en:allelic disorder to glut1 deficiency syndrome 1 (606777) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  857. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  858. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  859. en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  860. en:allelic disorder to ifap syndrome (308205) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to ifap syndrome (308205) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  861. en:allelic disorder to infantile neuroaxonal dystrophy (256600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  862. en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  863. en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  864. en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  865. en:allelic disorder to juvenile nephronophthisis-1 (256100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to juvenile nephronophthisis-1 (256100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  866. en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  867. en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  868. en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  869. en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  870. en:allelic disorder to limb-mammary syndrome (lms, 603543) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to limb-mammary syndrome (lms, 603543) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  871. en:allelic disorder to long qt syndrome-1 (lqt1, 192500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  872. en:allelic disorder to margarita island type of ectodermal dysplasia (225060) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  873. en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  874. en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  875. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  876. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  877. en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  878. en:allelic disorder to nf1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to nf1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  879. en:allelic disorder to nieman-pick disease type b (607616) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to nieman-pick disease type b (607616) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  880. en:allelic disorder to niemann-pick disease type a (257200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to niemann-pick disease type a (257200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  881. en:allelic disorder to northern epilepsy (610003) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to northern epilepsy (610003) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  882. en:allelic disorder to opitz-kaveggia syndrome (305450) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to opitz-kaveggia syndrome (305450) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  883. en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  884. en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  885. en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  886. en:allelic disorder to paramyotonia congenita (168300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to paramyotonia congenita (168300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  887. en:allelic disorder to parkinson disease-1 (park1, 168601) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to parkinson disease-1 (park1, 168601) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  888. en:allelic disorder to primary erythermalgia (133020) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to primary erythermalgia (133020) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  889. en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  890. en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  891. en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  892. en:allelic disorder to rett syndrome (312750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to rett syndrome (312750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  893. en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  894. en:allelic disorder to rippling muscle disease (rmd, 606072) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to rippling muscle disease (rmd, 606072) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  895. en:allelic disorder to schindler disease (609241) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to schindler disease (609241) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  896. en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  897. en:allelic disorder to spastic paraplegia-3 (spg3, 182600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  898. en:allelic disorder to spinal muscular atrophy type i (253300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to spinal muscular atrophy type i (253300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  899. en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  900. en:allelic disorder to stickler syndrome 3 (184840) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to stickler syndrome 3 (184840) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  901. en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  902. en:allelic disorder to the ivic syndrome (147750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to the ivic syndrome (147750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  903. en:allelic disorder to the zlotogora-ogur syndrome (225000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to the zlotogora-ogur syndrome (225000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  904. en:allelic disorder to type iv glycogen storage disease (232500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to type iv glycogen storage disease (232500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  905. en:allelic disorder to usher syndrome type 1f (602083) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to usher syndrome type 1f (602083) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  906. en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  907. en:allelic disorders with clinical overlap include dss and cmt1b (118200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  908. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  909. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  910. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  911. en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  912. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  913. 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:one patient reported (last curated november 2012)
    n1=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  914. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  915. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  916. en:allelic to acrocapitofemoral dysplasia (607778) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to acrocapitofemoral dysplasia (607778) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  917. en:allelic to acrokeratosis verruciformis (101900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to acrokeratosis verruciformis (101900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  918. 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:one patient reported (last curated november 2012)
    n1=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  919. en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  920. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  921. en:allelic to aicardi-goutieres syndrome (225750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to aicardi-goutieres syndrome (225750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  922. en:allelic to anterior segment mesenchymal dysgenesis (107250) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to anterior segment mesenchymal dysgenesis (107250) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  923. en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  924. en:allelic to autosomal recessive pxe (264800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to autosomal recessive pxe (264800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  925. en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  926. en:allelic to bardet-biedl syndrome 6 (209900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to bardet-biedl syndrome 6 (209900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  927. en:allelic to birt-hogg-dube syndrome (135150) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to birt-hogg-dube syndrome (135150) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  928. en:allelic to brachydactyly, type a1 (112500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to brachydactyly, type a1 (112500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  929. en:allelic to brachydactyly, type a2 (112600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to brachydactyly, type a2 (112600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  930. en:allelic to cartilage-hair hypoplasia (250250) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to cartilage-hair hypoplasia (250250) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  931. en:allelic to cowden disease (158350), which has a later age at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to cowden disease (158350), which has a later age at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  932. en:allelic to craniometaphyseal dysplasia (123000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to craniometaphyseal dysplasia (123000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  933. en:allelic to deafness, autosomal recessive 12 (601386) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to deafness, autosomal recessive 12 (601386) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  934. en:allelic to deafness, autosomal recessive 23 (609533) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to deafness, autosomal recessive 23 (609533) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  935. en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  936. en:allelic to dentin dysplasia, type 2 (125420) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to dentin dysplasia, type 2 (125420) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  937. en:allelic to dentinogenesis imperfecta 1 (125490) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to dentinogenesis imperfecta 1 (125490) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  938. en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  939. en:allelic to dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to dyggve-melchior-clausen disease (223800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  940. en:allelic to early-onset familial alzheimer disease (ad1, 104300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  941. en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  942. en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  943. en:allelic to ellis-van creveld syndrome (225500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to ellis-van creveld syndrome (225500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  944. en:allelic to enhanced s-cone syndrome (268100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to enhanced s-cone syndrome (268100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  945. en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  946. en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  947. en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  948. en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  949. en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  950. en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  951. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  952. en:allelic to hand osteoarthritis (607850) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to hand osteoarthritis (607850) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  953. en:allelic to hawkinsinuria (140350) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to hawkinsinuria (140350) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  954. en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  955. en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  956. en:allelic to infantile sialic acid storage disorder (269920) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to infantile sialic acid storage disorder (269920) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  957. en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  958. en:allelic to kenny-caffey syndrome type 1 (244460) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to kenny-caffey syndrome type 1 (244460) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  959. en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  960. en:allelic to leopard syndrome (151100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to leopard syndrome (151100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  961. en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  962. en:allelic to marshall syndrome (154780) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to marshall syndrome (154780) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  963. en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  964. en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  965. en:allelic to mevalonic aciduria (610377) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to mevalonic aciduria (610377) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  966. en:allelic to mucolipidosis ii (252500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to mucolipidosis ii (252500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  967. en:allelic to mucopolysaccharidosis ivb --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to mucopolysaccharidosis ivb | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  968. en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  969. en:allelic to multiple pterygium syndrome, lethal type (253290) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to multiple pterygium syndrome, lethal type (253290) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  970. 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:one patient reported (last curated november 2012)
    n1=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  971. en:allelic to myosin storage myopathy (608358) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to myosin storage myopathy (608358) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  972. en:allelic to naxos disease (601214) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to naxos disease (601214) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  973. en:allelic to nephronophthisis 4 (606966) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to nephronophthisis 4 (606966) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  974. en:allelic to neurofibromatosis-1 (nf1, 162200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to neurofibromatosis-1 (nf1, 162200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  975. en:allelic to noonan syndrome (163950) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to noonan syndrome (163950) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  976. en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  977. 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:one patient reported (last curated november 2012)
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  978. 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:one patient reported (last curated november 2012)
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  979. en:allelic to pachyonychia congenita jackson-lawler type (167210) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to pachyonychia congenita jackson-lawler type (167210) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  980. en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  981. en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  982. en:allelic to pendred syndrome, deafness with goiter (274600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to pendred syndrome, deafness with goiter (274600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  983. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  984. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  985. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  986. en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  987. en:allelic to pseudoachondroplasia (177170) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to pseudoachondroplasia (177170) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  988. 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:one patient reported (last curated november 2012)
    n1=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  989. en:allelic to rett syndrome (312750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to rett syndrome (312750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  990. en:allelic to roberts syndrome (268300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to roberts syndrome (268300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  991. en:allelic to robinow syndrome, autosomal recessive (268310) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to robinow syndrome, autosomal recessive (268310) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  992. en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  993. en:allelic to senior-loken syndrome 4 (606996) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to senior-loken syndrome 4 (606996) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  994. en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  995. en:allelic to several forms of autosomal recessive cmt (see 214400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to several forms of autosomal recessive cmt (see 214400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  996. en:allelic to sialuria, finnish type (604369) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to sialuria, finnish type (604369) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  997. en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  998. en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  999. en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1000. en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1001. en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1002. en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1003. en:allelic to trp1 (190350) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to trp1 (190350) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1004. en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1005. 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:one patient reported (last curated november 2012)
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1006. en:allelic to tyrosinemia, type iii (276720) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to tyrosinemia, type iii (276720) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1007. 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:one patient reported (last curated november 2012)
    n1=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1008. en:allelic to usher syndrome, type id (601067) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to usher syndrome, type id (601067) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1009. en:allelic to waardenburg syndrome, type iia (193510) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to waardenburg syndrome, type iia (193510) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1010. en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1011. en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1012. en:allelic with cone-rod dystrophy 10 (610283) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic with cone-rod dystrophy 10 (610283) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1013. en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1014. en:allelic with retinitis pigmentosa 35 (610282) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic with retinitis pigmentosa 35 (610282) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1015. en:allelic with smith-mccort dysplasia (607326) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:allelic with smith-mccort dysplasia (607326) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1016. en:almost all patients require total parenteral nutrition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:almost all patients require total parenteral nutrition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1017. en:alopecia may spontaneously regress, become chronic, or spread diffusely --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:alopecia may spontaneously regress, become chronic, or spread diffusely | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1018. en:alopecia usually occurs around puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:alopecia usually occurs around puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1019. en:alpha thalassemia-mental retardation syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:alpha thalassemia-mental retardation syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1020. en:alpha-l-iduronidase activity is <1% for all forms of mps1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1021. en:also called 'heterozygous osmed' and 'autosomal dominant osmed' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1022. en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1023. en:ambulation is preserved --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ambulation is preserved | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1024. en:ambulation is usually maintained during adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ambulation is usually maintained during adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1025. en:ambulation usually not achieved --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ambulation usually not achieved | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1026. en:amelioration with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:amelioration with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1027. en:an autosomal recessive form has been reported (269720) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:an autosomal recessive form has been reported (269720) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1028. en:anemia does not respond to alpha-interferon treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia does not respond to alpha-interferon treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1029. en:anemia is not responsive to pyridoxine supplementation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia is not responsive to pyridoxine supplementation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1030. en:anemia is transfusion-dependent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia is transfusion-dependent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1031. en:anemia may be responsive to iron chelation treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia may be responsive to iron chelation treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1032. en:anemia may show favorable response to alpha-interferon treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia may show favorable response to alpha-interferon treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1033. en:anemia may show onset in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia may show onset in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1034. en:anemia, diabetes, and deafness often show onset at different ages --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia, diabetes, and deafness often show onset at different ages | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1035. en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1036. en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1037. en:antenatal onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:antenatal onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1038. en:antibodies can develop after pregnancy or transfusion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:antibodies can develop after pregnancy or transfusion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1039. en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1040. en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1041. en:aortic dissection may occur in second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:aortic dissection may occur in second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1042. en:apparent at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:apparent at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1043. en:apparent in newborn at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:apparent in newborn at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1044. en:appear normal at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:appear normal at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1045. en:approximately 10% of als cases are familial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 10% of als cases are familial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1046. en:approximately 12 patients have been reported (as of march 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 12 patients have been reported (as of march 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1047. en:approximately 25% have a severe course and die of respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 25% have a severe course and die of respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1048. en:approximately 35% of patients die during the first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 35% of patients die during the first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1049. en:approximately 40% of patients die within newborn period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 40% of patients die within newborn period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1050. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1051. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1052. en:approximately 50db loss in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 50db loss in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1053. en:approximately 60% of brrs patients have pten mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 60% of brrs patients have pten mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1054. en:approximately 60% of cases are due to somatic mutations and are unilateral --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 60% of cases are due to somatic mutations and are unilateral | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1055. en:approximately 80% of cs patients have pten mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 80% of cs patients have pten mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1056. en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1057. en:approximately half of cases are due to de novo deletions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately half of cases are due to de novo deletions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1058. en:approximately half of cases are due to unbalanced rearrangements, which may be familial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1059. en:approximately half of patients need ambulatory support after the fifth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately half of patients need ambulatory support after the fifth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1060. en:approximately half of the mutations are de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately half of the mutations are de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1061. en:approximately one-third of patients become seizure-free with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:approximately one-third of patients become seizure-free with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1062. en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1063. en:arrhythmias detected prenatally (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:arrhythmias detected prenatally (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1064. en:arteriovenous malformations can occur throughout the body --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:arteriovenous malformations can occur throughout the body | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1065. en:arthralgia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:arthralgia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1066. en:as of 2009, one family has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:as of 2009, one family has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1067. en:assisted ambulation or wheelchair-dependent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:assisted ambulation or wheelchair-dependent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1068. en:associated specifically with the gba d409h mutation (606463.0006) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated specifically with the gba d409h mutation (606463.0006) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1069. en:associated with a balanced translocation t(12,22)(p11.2,q13.3) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1070. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1071. en:associated with deletion at chromosome 2q37 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with deletion at chromosome 2q37 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1072. en:associated with fragile x syndrome (300624) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with fragile x syndrome (300624) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1073. en:associated with fragile x syndrome (309550) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with fragile x syndrome (309550) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1074. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1075. en:associated with idiopathic generalized epilepsy (ige, 600669) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with idiopathic generalized epilepsy (ige, 600669) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1076. en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1077. en:associated with increased paternal age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with increased paternal age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1078. en:associated with increasing age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with increasing age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1079. en:associated with iron deficiency anemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with iron deficiency anemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1080. en:associated with malignant hyperthermia (mhs, 145600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with malignant hyperthermia (mhs, 145600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1081. en:associated with myoclonic epilepsy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with myoclonic epilepsy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1082. en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1083. 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:one patient reported (last curated november 2012)
    n1=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1084. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1085. en:associated with the tau (157140) h1 haplotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with the tau (157140) h1 haplotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1086. en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1087. en:associated with tuberous sclerosis (191100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with tuberous sclerosis (191100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1088. en:associated with untreated phenylketonuria (261600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:associated with untreated phenylketonuria (261600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1089. en:association between hla class ii alleles and presence of autoantibodies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:association between hla class ii alleles and presence of autoantibodies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1090. en:association of cardiac events with exercise --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:association of cardiac events with exercise | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1091. en:association with autoimmune diseases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:association with autoimmune diseases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1092. 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:one patient reported (last curated november 2012)
    n1=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1093. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1094. en:asymptomatic heterozygotes susceptible to lead toxicity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:asymptomatic heterozygotes susceptible to lead toxicity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1095. en:asymptomatic if papillary zone is spared --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:asymptomatic if papillary zone is spared | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1096. en:asymptomatic skin lesions begin on neck in third decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:asymptomatic skin lesions begin on neck in third decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1097. en:asymptomatic younger patients show characteristic basal ganglia calcifications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:asymptomatic younger patients show characteristic basal ganglia calcifications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1098. en:at birth, there is generalized red scaly skin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:at birth, there is generalized red scaly skin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1099. en:ataxia becomes evident at the end of the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ataxia becomes evident at the end of the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1100. en:ataxia is nonprogressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ataxia is nonprogressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1101. en:ataxia is slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ataxia is slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1102. en:attack frequency may occur several times per week to once per year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attack frequency may occur several times per week to once per year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1103. en:attacks are not responsive to acetazolamide --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks are not responsive to acetazolamide | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1104. en:attacks may present during or after sleep --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks may present during or after sleep | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1105. en:attacks often drug-induced --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks often drug-induced | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1106. en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1107. en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1108. en:attacks rarely occur before puberty (hcp) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks rarely occur before puberty (hcp) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1109. en:attacks tend to decrease with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks tend to decrease with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1110. en:attacks triggered by catabolic stress, such as fever or illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks triggered by catabolic stress, such as fever or illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1111. en:attacks typically last for minutes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:attacks typically last for minutes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1112. en:atypical affected males, 'cardiac variants' 301500.0005 exist --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:atypical affected males, 'cardiac variants' 301500.0005 exist | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1113. en:atypical hemolytic-uremic syndrome shows onset in first 12 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1114. en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1115. en:aura may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:aura may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1116. en:autoimmune manifestations are present in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autoimmune manifestations are present in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1117. en:autonomic dysfunction usually precedes obvious neurologic deterioration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autonomic dysfunction usually precedes obvious neurologic deterioration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1118. en:autonomic symptoms occur with headaches --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autonomic symptoms occur with headaches | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1119. en:autosomal dominant and autosomal recessive forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant and autosomal recessive forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1120. en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1121. en:autosomal dominant inheritance has been rarely reported (187800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant inheritance has been rarely reported (187800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1122. en:autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant inheritance has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1123. en:autosomal dominant inheritance has been reported in a single family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant inheritance has been reported in a single family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1124. en:autosomal dominant omodysplasia has also been described (164745) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant omodysplasia has also been described (164745) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1125. en:autosomal dominant transmission has been rarely reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant transmission has been rarely reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1126. en:autosomal dominant with complete penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant with complete penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1127. en:autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal dominant with incomplete penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1128. en:autosomal recessive and dominant pedigrees described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive and dominant pedigrees described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1129. en:autosomal recessive cases have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive cases have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1130. en:autosomal recessive cases tend to have a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive cases tend to have a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1131. en:autosomal recessive cytochrome b-negative cgd (233690) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive cytochrome b-negative cgd (233690) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1132. en:autosomal recessive cytochrome b-positive cgd, type i --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive cytochrome b-positive cgd, type i | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1133. en:autosomal recessive cytochrome b-positive cgd, type i (233700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1134. en:autosomal recessive cytochrome b-positive cgd, type ii --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1135. en:autosomal recessive cytochrome b-positive cgd, type ii (233710) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1136. en:autosomal recessive form (240220) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive form (240220) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1137. en:autosomal recessive inheritance (245600) has also been suggested --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance (245600) has also been suggested | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1138. en:autosomal recessive inheritance can occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance can occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1139. en:autosomal recessive inheritance has also been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has also been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1140. en:autosomal recessive inheritance has been described in 2 families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has been described in 2 families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1141. en:autosomal recessive inheritance has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1142. en:autosomal recessive inheritance has been reported (see 601253.0010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has been reported (see 601253.0010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1143. en:autosomal recessive inheritance has been reported in 1 case --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has been reported in 1 case | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1144. en:autosomal recessive inheritance has been reported in 1 family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has been reported in 1 family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1145. en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1146. en:autosomal recessive inheritance has been suggested --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance has been suggested | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1147. en:autosomal recessive inheritance in one family (see 603342.0010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance in one family (see 603342.0010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1148. en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1149. en:autosomal recessive inheritance with earlier onset has been suggested --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive inheritance with earlier onset has been suggested | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1150. en:autosomal recessive omodysplasia has also been described (258315) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:autosomal recessive omodysplasia has also been described (258315) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1151. en:average age at death is 37 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at death is 37 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1152. en:average age at onset 16.6 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset 16.6 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1153. en:average age at onset 18 years (range 15 to 25 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset 18 years (range 15 to 25 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1154. en:average age at onset 18.6 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset 18.6 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1155. en:average age at onset 19 years (range 5 to 38) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset 19 years (range 5 to 38) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1156. en:average age at onset 31 years (range 7 to 54) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset 31 years (range 7 to 54) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1157. en:average age at onset 38 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset 38 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1158. en:average age at onset 66 years although earlier onset may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset 66 years although earlier onset may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1159. en:average age at onset is 24 years (range 4 to 58 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age at onset is 24 years (range 4 to 58 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1160. en:average age of onset 13 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age of onset 13 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1161. en:average age of onset 15 years (range 4 to 40) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age of onset 15 years (range 4 to 40) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1162. en:average age of onset 57 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age of onset 57 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1163. en:average age of onset 6 months (range birth - 2 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average age of onset 6 months (range birth - 2 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1164. en:average duration of illness 8 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average duration of illness 8 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1165. en:average onset 6 months (range 3-9) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:average onset 6 months (range 3-9) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1166. en:axial skeleton most commonly affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:axial skeleton most commonly affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1167. en:basal cell neoplasms develop after second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:basal cell neoplasms develop after second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1168. en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1169. en:based on 1 4-generation chinese family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 4-generation chinese family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1170. en:based on 1 5-generation family (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 5-generation family (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1171. en:based on 1 family (last curated september 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 family (last curated september 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1172. en:based on 1 large swiss german kindred (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 large swiss german kindred (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1173. en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1174. en:based on 1 report of monozygotic twins (last curated may 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 report of monozygotic twins (last curated may 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1175. en:based on 1 reported family (last curated december 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 reported family (last curated december 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1176. en:based on 1 reported family with oca6 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 reported family with oca6 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1177. en:based on 1 reported patient (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 reported patient (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1178. en:based on 1 uruguayan family (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 1 uruguayan family (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1179. en:based on 13 patients in one family (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 13 patients in one family (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1180. en:based on 2 cousins in a consanguineous family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 cousins in a consanguineous family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1181. en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1182. en:based on 2 men from 2 unrelated consanguineous iranian families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 men from 2 unrelated consanguineous iranian families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1183. en:based on 2 patients with p4hb mutations (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 patients with p4hb mutations (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1184. en:based on 2 reported patients (last curated january 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 reported patients (last curated january 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1185. en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1186. en:based on 2 reports of 3 patients (last curated september 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 reports of 3 patients (last curated september 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1187. en:based on 2 siblings in 1 family (last curated september 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 siblings in 1 family (last curated september 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1188. en:based on 2 siblings in a consanguineous family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 siblings in a consanguineous family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1189. en:based on 2 unrelated chinese families (last curated july 2014). --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 2 unrelated chinese families (last curated july 2014). | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1190. en:based on 3 patients from 2 families (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 3 patients from 2 families (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1191. en:based on 4 patients in one family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 4 patients in one family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1192. en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1193. en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1194. en:based on a report of 2 affected male cousins (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on a report of 2 affected male cousins (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1195. en:based on a report of 2 monozygotic twin girls (last curated october 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1196. en:based on a report of 2 unrelated saudi patients (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1197. en:based on a report of one dutch family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on a report of one dutch family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1198. en:based on description of 1 family (last curated april 2006) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on description of 1 family (last curated april 2006) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1199. en:based on detailed clinical description of 1 family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on detailed clinical description of 1 family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1200. en:based on four patients in a four generation family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on four patients in a four generation family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1201. en:based on one 4-generation german family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one 4-generation german family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1202. en:based on one 4-generation italian family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one 4-generation italian family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1203. en:based on one consanguineous palestinian family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one consanguineous palestinian family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1204. en:based on one finnish family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one finnish family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1205. en:based on one italian family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one italian family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1206. en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1207. en:based on one large north american family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one large north american family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1208. en:based on one pakistani family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one pakistani family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1209. en:based on one patient (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one patient (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1210. en:based on one report of 3 consanguineous pakistani families (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1211. en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1212. en:based on one report of 4 unrelated sporadic patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one report of 4 unrelated sporadic patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1213. en:based on one report of a 4-generation family with 4 affected males and 6 affected females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1214. en:based on one report of brother and sister --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on one report of brother and sister | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1215. en:based on report of 1 3-generation family (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 3-generation family (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1216. en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1217. en:based on report of 1 consanguineous pakistani family (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1218. en:based on report of 1 consanguineous turkish family (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 consanguineous turkish family (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1219. en:based on report of 1 family (last curated december 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 family (last curated december 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1220. en:based on report of 1 family (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 family (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1221. en:based on report of 1 family (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 family (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1222. en:based on report of 1 family (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 family (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1223. en:based on report of 1 family (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 family (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1224. en:based on report of 1 family of german ancestry (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 family of german ancestry (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1225. en:based on report of 1 family with 7 affected members --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 family with 7 affected members | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1226. en:based on report of 1 japanese family (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 japanese family (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1227. en:based on report of 1 large 6-generation family (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 large 6-generation family (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1228. en:based on report of 1 large dutch pedigree (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 large dutch pedigree (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1229. en:based on report of 1 saudi arabian family (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 saudi arabian family (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1230. en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1231. en:based on report of 2 affected brothers in 1 family (last curated october 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1232. en:based on report of 2 affected sisters (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 affected sisters (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1233. en:based on report of 2 consanguineous arab families (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 consanguineous arab families (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1234. en:based on report of 2 consanguineous pakistani families (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1235. en:based on report of 2 families (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 families (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1236. en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1237. en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1238. en:based on report of 2 probands (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 probands (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1239. en:based on report of 2 siblings and 1 patient (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 siblings and 1 patient (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1240. en:based on report of 2 sisters (last curated october 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 sisters (last curated october 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1241. en:based on report of 2 turkish sisters (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 turkish sisters (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1242. en:based on report of 2 unrelated girls (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 unrelated girls (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1243. en:based on report of 2 unrelated japanese girls (last curated october 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 unrelated japanese girls (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1244. en:based on report of 2 unrelated patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 unrelated patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1245. en:based on report of 2 unrelated patients (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 unrelated patients (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1246. en:based on report of 2 unrelated patients (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 2 unrelated patients (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1247. en:based on report of 3 patients from 2 families (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 3 patients from 2 families (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1248. en:based on report of 3 unrelated children (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 3 unrelated children (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1249. en:based on report of 3 unrelated patients (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 3 unrelated patients (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1250. en:based on report of 4 unrelated patients (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 4 unrelated patients (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1251. en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1252. en:based on report of a chinese father and son (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of a chinese father and son (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1253. en:based on report of a hispanic mother and son (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of a hispanic mother and son (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1254. en:based on report of one 5-generation family (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of one 5-generation family (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1255. en:based on report of one consanguineous kuwaiti family (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1256. en:based on report of one indian family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of one indian family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1257. en:based on report of one polish roma patient (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on report of one polish roma patient (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1258. en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1259. en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1260. en:based on reports of one family and one patient (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on reports of one family and one patient (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1261. en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1262. en:based on the report of 1 consanguineous arab family (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on the report of 1 consanguineous arab family (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1263. en:based on the report of 1 japanese family (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on the report of 1 japanese family (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1264. en:based on the report of one consanguineous pakistani family (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on the report of one consanguineous pakistani family (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1265. en:based on the report of one lebanese family (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:based on the report of one lebanese family (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1266. en:because fetal chrng (100730) exhibits phenotypic rescue --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:because fetal chrng (100730) exhibits phenotypic rescue | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1267. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1268. en:begins as focal dystonia, later becomes segmental or generalized --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:begins as focal dystonia, later becomes segmental or generalized | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1269. en:begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:begins in feet and legs (peroneal distribution) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1270. en:begins in hands or feet, later generalized --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:begins in hands or feet, later generalized | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1271. en:behavioral problems including stubbornness and rage --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:behavioral problems including stubbornness and rage | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1272. en:benign condition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:benign condition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1273. en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1274. en:benign trait --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:benign trait | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1275. en:benign, asymptomatic defect --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:benign, asymptomatic defect | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1276. en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1277. en:between 2 and 7% of children will develop afebrile seizure disorders later in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1278. en:bilateral involvement in 10% of cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bilateral involvement in 10% of cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1279. en:bimodal age of onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bimodal age of onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1280. en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1281. en:birth date:time stamp -- date and time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1282. en:birth incidence approximately 5.1 per million live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:birth incidence approximately 5.1 per million live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1283. en:birth rate of 7.6 per 1,000,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:birth rate of 7.6 per 1,000,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1284. en:bleeding after trauma or surgery --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bleeding after trauma or surgery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1285. en:bleeding episodes occur early in life and may disappear with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bleeding episodes occur early in life and may disappear with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1286. en:blindness episodes are not associated with fhm episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blindness episodes are not associated with fhm episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1287. en:blistering and erosions tend to occur on extensor surfaces or over bony prominences --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1288. en:blistering becomes confined to the palms and soles with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blistering becomes confined to the palms and soles with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1289. en:blistering frequency may decrease with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blistering frequency may decrease with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1290. en:blistering may worsen during the summer --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blistering may worsen during the summer | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1291. en:blistering tends to improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blistering tends to improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1292. en:blood glucose monitor with integrated lancing/blood sample --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blood glucose monitor with integrated lancing/blood sample | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1293. en:blood glucose monitor with integrated voice synthesizer --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:blood glucose monitor with integrated voice synthesizer | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1294. en:body habitus becomes apparent in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:body habitus becomes apparent in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1295. en:bone abnormalities improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bone abnormalities improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1296. en:bone anomalies may be seen on prenatal ultrasound (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1297. en:bone changes tend to develop after first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bone changes tend to develop after first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1298. en:bone fragility is not apparent at birth, but becomes evident within several months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bone fragility is not apparent at birth, but becomes evident within several months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1299. en:both autosomal dominant and autosomal recessive inheritance have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both autosomal dominant and autosomal recessive inheritance have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1300. en:both autosomal dominant and recessive inheritance can occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both autosomal dominant and recessive inheritance can occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1301. en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1302. en:both demyelinating and axonal features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both demyelinating and axonal features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1303. en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1304. en:both heterozygous and homozygous mutations have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both heterozygous and homozygous mutations have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1305. en:both heterozygous and homozygous pax3 mutations have been found --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both heterozygous and homozygous pax3 mutations have been found | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1306. en:both homozygous and heterozygous edn3 mutations have been found --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both homozygous and heterozygous edn3 mutations have been found | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1307. en:both homozygous and heterozygous ednrb mutations have been found --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both homozygous and heterozygous ednrb mutations have been found | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1308. en:both homozygous and heterozygous mutations in lrsam1 have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both homozygous and heterozygous mutations in lrsam1 have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1309. en:both recessive and dominant inheritance have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both recessive and dominant inheritance have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1310. en:both reported cases survived beyond infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:both reported cases survived beyond infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1311. en:brain anomalies variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:brain anomalies variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1312. en:brain mri abnormalities show improvement with time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:brain mri abnormalities show improvement with time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1313. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1314. en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1315. en:breech position --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:breech position | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1316. en:breech presentation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:breech presentation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1317. en:broad range in severity of presentation in sibships --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:broad range in severity of presentation in sibships | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1318. en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1319. en:broad-based gait --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:broad-based gait | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1320. en:bullae are located randomly in familial cases and apical in sporadic cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:bullae are located randomly in familial cases and apical in sporadic cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1321. en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1322. en:c10orf2 mutations account for approximately 35% of all peo cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:c10orf2 mutations account for approximately 35% of all peo cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1323. en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1324. en:can be asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can be asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1325. en:can be categorized into 3 groups --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can be categorized into 3 groups | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1326. en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1327. en:can be effectively treated with n-carbamylglutamate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can be effectively treated with n-carbamylglutamate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1328. en:can be slowly or rapidly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can be slowly or rapidly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1329. en:can be treated by bone marrow transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can be treated by bone marrow transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1330. en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1331. en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1332. en:cancer onset usually in mid-adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cancer onset usually in mid-adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1333. en:candidiasis is restricted to nails of hands and feet --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:candidiasis is restricted to nails of hands and feet | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1334. en:candidiasis is usually the first symptom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:candidiasis is usually the first symptom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1335. en:capillary malformation are apparent at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:capillary malformation are apparent at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1336. en:carcinomas tend to develop in mid or late adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carcinomas tend to develop in mid or late adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1337. en:cardiac and pulmonary dysfunction normalize in the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cardiac and pulmonary dysfunction normalize in the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1338. en:cardiac arrest and sudden death may occur, even in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cardiac arrest and sudden death may occur, even in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1339. en:cardiac failure at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cardiac failure at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1340. en:cardiac features are observed in ~3% of cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cardiac features are observed in ~3% of cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1341. en:cardiac involvement occurs between 5 and 12 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cardiac involvement occurs between 5 and 12 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1342. en:cardiac manifestations are often fatal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cardiac manifestations are often fatal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1343. en:cardiomyopathy may develop later in the disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cardiomyopathy may develop later in the disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1344. en:carnitine supplementation can prevent further episodes and declines in cardiac function --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carnitine supplementation can prevent further episodes and declines in cardiac function | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1345. en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1346. 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:one patient reported (last curated november 2012)
    n1=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1347. en:carrier females are normal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females are normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1348. en:carrier females are unaffected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females are unaffected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1349. en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1350. en:carrier females have arthralgias in middle age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females have arthralgias in middle age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1351. en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1352. en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1353. en:carrier females may have mild features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females may have mild features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1354. en:carrier females may present with postpartum hyperammonemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females may present with postpartum hyperammonemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1355. en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1356. en:carrier females may show mild mental retardation or learning disabilities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females may show mild mental retardation or learning disabilities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1357. en:carrier females may show neuropsychologic impairment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females may show neuropsychologic impairment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1358. en:carrier females show no clinical phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier females show no clinical phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1359. en:carrier frequency 1:1,000 in french-canadians in quebec --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier frequency 1:1,000 in french-canadians in quebec | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1360. en:carrier frequency 1:200,000 in france --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier frequency 1:200,000 in france | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1361. en:carrier frequency 1:700 in bukhara jewish populations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier frequency 1:700 in bukhara jewish populations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1362. en:carrier frequency in finland 1/40 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier frequency in finland 1/40 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1363. en:carrier frequency in finland is 1 in 230 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier frequency in finland is 1 in 230 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1364. en:carrier males are fertile --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier males are fertile | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1365. en:carrier males are unaffected except for psychiatric/behavioral abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1366. en:carrier mothers have urine biochemistry profiles identical to those of their sons --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier mothers have urine biochemistry profiles identical to those of their sons | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1367. en:carrier rate of 1 in 11 among old order amish --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier rate of 1 in 11 among old order amish | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1368. en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1369. en:cases reported in the old order amish and one japanese family (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cases reported in the old order amish and one japanese family (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1370. 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:one patient reported (last curated november 2012)
    n1=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1371. en:cataract evident at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cataract evident at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1372. en:cataracts are progressive but may vary between eyes of an individual --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cataracts are progressive but may vary between eyes of an individual | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1373. en:cataracts develop by second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cataracts develop by second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1374. en:cataracts may be subclinical in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cataracts may be subclinical in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1375. en:cataracts present at birth or develop in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cataracts present at birth or develop in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1376. en:cataracts variably present at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cataracts variably present at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1377. en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1378. en:cause of death usually due to respiratory failure before adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cause of death usually due to respiratory failure before adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1379. en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1380. en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1381. en:caused by a defect in bile acid transport --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by a defect in bile acid transport | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1382. en:caused by constitutive activation of the avpr2 receptor --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by constitutive activation of the avpr2 receptor | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1383. en:caused by heterozygous germline mutation and second-hit somatic mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by heterozygous germline mutation and second-hit somatic mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1384. 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:one patient reported (last curated november 2012)
    n1=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1385. en:caused by inborn error in bile acid synthesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by inborn error in bile acid synthesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1386. en:caused by inheritance of the mutation on the maternal allele (imprinting) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by inheritance of the mutation on the maternal allele (imprinting) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1387. en:caused by paternally-inherited inactivating gnas1 mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by paternally-inherited inactivating gnas1 mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1388. en:caused by somatic mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:caused by somatic mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1389. en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1390. 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:one patient reported (last curated november 2012)
    n1=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1391. en:cells of origin are part of the diffuse neuroendocrine system (dnes) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1392. en:central apneic episodes may be fatal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:central apneic episodes may be fatal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1393. en:central hypoventilation occurs late in the disease and is often fatal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:central hypoventilation occurs late in the disease and is often fatal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1394. en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1395. en:cerebellar ataxia shows onset in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cerebellar ataxia shows onset in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1396. en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1397. en:changes more marked in hands than feet --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:changes more marked in hands than feet | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1398. en:characteristic face and body by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:characteristic face and body by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1399. en:characteristic facial features become more apparent with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:characteristic facial features become more apparent with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1400. en:characterized by calf weakness at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:characterized by calf weakness at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1401. en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1402. en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1403. en:cheerful disposition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cheerful disposition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1404. en:chelation therapy can result in clinical improvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chelation therapy can result in clinical improvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1405. en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1406. en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1407. en:childhood onset (average 4 to 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood onset (average 4 to 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1408. en:childhood onset (range birth to 12 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood onset (range birth to 12 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1409. en:childhood onset has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1410. en:childhood onset has been reported in 1 family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood onset has been reported in 1 family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1411. en:childhood onset may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood onset may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1412. en:childhood onset rarely occurs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood onset rarely occurs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1413. en:childhood or adolescent onset, protracted, with myopathy and neuropathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1414. en:childhood or young adult onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:childhood or young adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1415. en:children rarely develop the disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:children rarely develop the disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1416. en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1417. en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1418. en:cholinesterase inhibitors may be beneficial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cholinesterase inhibitors may be beneficial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1419. en:chromosomal hypersensitivity to ionizing radiation and alkylating agents --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1420. en:chromosome rearrangements have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chromosome rearrangements have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1421. en:chronic disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chronic disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1422. en:chronic, relapsing condition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:chronic, relapsing condition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1423. en:citation:bib:pt:reference lab test:nar --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:citation:bib:pt:reference lab test:nar | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1424. en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1425. en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1426. en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1427. en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1428. en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1429. en:classical form (type i), less severe with survival into adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:classical form (type i), less severe with survival into adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1430. en:clinical and biochemical abnormalities improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical and biochemical abnormalities improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1431. en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1432. en:clinical and pathologic features of both demyelinating and axonal cmt --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical and pathologic features of both demyelinating and axonal cmt | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1433. en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1434. en:clinical features based on 1 reported family (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical features based on 1 reported family (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1435. en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1436. en:clinical features may vary --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical features may vary | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1437. en:clinical features other than liver findings may vary --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical features other than liver findings may vary | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1438. en:clinical features present only if mutation inherited on paternal allele --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical features present only if mutation inherited on paternal allele | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1439. en:clinical improvement after 2 to 3 weeks of supportive care --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical improvement after 2 to 3 weeks of supportive care | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1440. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1441. en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1442. 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:one patient reported (last curated november 2012)
    n1=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1443. en:clinical onset within first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical onset within first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1444. en:clinical overlap with charcot-marie-tooth disease type 2c (606071) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1445. en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1446. en:clinical overlap with dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1447. en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1448. en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1449. en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1450. en:clinical presentation varies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical presentation varies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1451. en:clinical severity varies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical severity varies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1452. en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1453. en:clinical variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1454. en:clinical variability seen in waardenburg syndrome type 1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical variability seen in waardenburg syndrome type 1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1455. en:clinical variation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinical variation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1456. en:clinically 'silent' nystagmus evident on eye movement recording in carrier females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1457. en:clinically classified into classic, atypical, and intermediate phenotypes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinically classified into classic, atypical, and intermediate phenotypes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1458. en:clinically mimics congenital torch infections (see 251290) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinically mimics congenital torch infections (see 251290) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1459. en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1460. en:clinically unaffected heterozygotes may show changes on electroretinography --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clinically unaffected heterozygotes may show changes on electroretinography | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1461. en:clonazepam and diazepam may be effective in preventing or lessening severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clonazepam and diazepam may be effective in preventing or lessening severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1462. en:clonidine can alleviate hyperhidrosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clonidine can alleviate hyperhidrosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1463. en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1464. en:clubfoot is bilateral in most patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:clubfoot is bilateral in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1465. 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:one patient reported (last curated november 2012)
    n1=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1466. en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1467. en:codominant inheritance has been suggested --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:codominant inheritance has been suggested | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1468. en:colchicine treatment is not effective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:colchicine treatment is not effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1469. en:cold temeratures exacerbate symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cold temeratures exacerbate symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1470. en:cold-induced sweating develops late in the first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cold-induced sweating develops late in the first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1471. en:colorectal cancer develops by fourth decade in untreated patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:colorectal cancer develops by fourth decade in untreated patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1472. en:common (up to 7% of the population) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:common (up to 7% of the population) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1473. en:common in afrikaan population, south africa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:common in afrikaan population, south africa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1474. en:common in japan and other asian populations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:common in japan and other asian populations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1475. en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1476. en:common in south african whites --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:common in south african whites | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1477. en:communication board, non-electronic augmentative or alternative communication device --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:communication board, non-electronic augmentative or alternative communication device | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1478. en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1479. en:complementation group b (represented by single atypical patient) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complementation group b (represented by single atypical patient) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1480. en:complementation group c (variant mliii, 252605) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complementation group c (variant mliii, 252605) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1481. en:complementation groups - complementation group a (classic mliii, 252600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complementation groups - complementation group a (classic mliii, 252600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1482. en:complete absence of melanin synthesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complete absence of melanin synthesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1483. en:complete manifestation in males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complete manifestation in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1484. en:complete penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complete penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1485. en:complete penetrance but extreme variability of phenotypic expression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complete penetrance but extreme variability of phenotypic expression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1486. en:complete penetrance with variable expressivity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complete penetrance with variable expressivity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1487. en:complete recovery during intervals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complete recovery during intervals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1488. en:complete recovery upon treatment of hyperthyroidism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complete recovery upon treatment of hyperthyroidism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1489. en:complicated and pure forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:complicated and pure forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1490. en:comprises several subtypes, including --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:comprises several subtypes, including | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1491. en:condition is experienced by patients as harmless and is often discovered incidentally --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:condition is experienced by patients as harmless and is often discovered incidentally | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1492. en:conduction defect is progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:conduction defect is progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1493. en:cone-shaped epiphyses usually not present before age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cone-shaped epiphyses usually not present before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1494. en:congenital - over 2,000 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital - over 2,000 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1495. en:congenital abnormality --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital abnormality | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1496. en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1497. en:congenital disorders --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital disorders | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1498. en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1499. en:congenital linear skin defects may disappear within a few months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital linear skin defects may disappear within a few months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1500. en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1501. en:congenital onset or onset before 2 years (prelingual) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital onset or onset before 2 years (prelingual) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1502. en:congenital or early onset hearing loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital or early onset hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1503. en:congenital reduction in visual acuity is nonprogressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:congenital reduction in visual acuity is nonprogressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1504. en:connatal form (type ii), most severe with death in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:connatal form (type ii), most severe with death in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1505. en:considered a benign disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered a benign disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1506. en:considered a myeloproliferative disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered a myeloproliferative disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1507. en:considered a normal variant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered a normal variant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1508. en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1509. en:considered to be a manifestation of the caudal regression syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered to be a manifestation of the caudal regression syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1510. en:considered to be a severe form of gaucher disease type ii (230900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered to be a severe form of gaucher disease type ii (230900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1511. en:considered to be a variant of gaucher disease type iii (231000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered to be a variant of gaucher disease type iii (231000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1512. en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1513. en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1514. en:contiguous gene deletion syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contiguous gene deletion syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1515. en:contiguous gene deletion syndrome (in most patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contiguous gene deletion syndrome (in most patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1516. en:contiguous gene deletion syndrome at chromosome 6p --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contiguous gene deletion syndrome at chromosome 6p | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1517. en:contiguous gene deletion syndrome of 5q31 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contiguous gene deletion syndrome of 5q31 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1518. en:contiguous gene duplication syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contiguous gene duplication syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1519. en:contiguous gene syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contiguous gene syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1520. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1521. en:continuing ovulation and implantation after initiation of another pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:continuing ovulation and implantation after initiation of another pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1522. en:contractures at birth or difficulties in the neonatal period resolve --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contractures at birth or difficulties in the neonatal period resolve | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1523. en:contractures most severe by midadolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:contractures most severe by midadolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1524. en:corneal diameter decreases with decreasing axial length --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:corneal diameter decreases with decreasing axial length | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1525. en:corneal steepening is proportional to the degree of axial foreshortening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:corneal steepening is proportional to the degree of axial foreshortening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1526. en:coronary artery disease or myocardial infarction in fifth or sixth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1527. en:corrected by bone marrow transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:corrected by bone marrow transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1528. en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1529. 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:one patient reported (last curated november 2012)
    n1=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1530. en:crisis precipitated by high altitude exposure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:crisis precipitated by high altitude exposure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1531. en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1532. en:cutaneous leiomyomas increase in number over time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cutaneous leiomyomas increase in number over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1533. en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1534. en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1535. en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1536. en:cyp2d6 represents about 1% of total liver cytochrome p450 content --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1537. en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1538. en:d-hus is usually familial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:d-hus is usually familial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1539. en:date of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:date of analysis:tmstp:pt:xxx:qn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1540. en:date of autopsy:date:pt:^patient:qn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:date of autopsy:date:pt:^patient:qn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1541. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1542. en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1543. en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1544. en:date ultrasound:date:pt:^patient:qn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:date ultrasound:date:pt:^patient:qn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1545. en:de novo deletions in 8% of patients (preferentially paternally derived) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo deletions in 8% of patients (preferentially paternally derived) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1546. en:de novo mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1547. en:de novo mutation (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutation (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1548. en:de novo mutation identified in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutation identified in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1549. en:de novo mutation in heterozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutation in heterozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1550. en:de novo mutation in most patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutation in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1551. en:de novo mutation in some cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutation in some cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1552. en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1553. en:de novo mutations occur almost exclusively on the paternally derived x chromosome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1554. en:deafness is presenting symptom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:deafness is presenting symptom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1555. en:death about 20 years after symptom onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death about 20 years after symptom onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1556. en:death at 10 to 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death at 10 to 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1557. en:death at 13 to 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death at 13 to 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1558. en:death at 20 to 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death at 20 to 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1559. en:death at birth or within first 2 years of life (severe form) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death at birth or within first 2 years of life (severe form) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1560. en:death before age 15 in iia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death before age 15 in iia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1561. en:death before age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death before age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1562. en:death between 2 years of age and young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death between 2 years of age and young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1563. en:death by age 15 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death by age 15 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1564. en:death by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1565. en:death by age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death by age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1566. en:death by age 5 (infantile form) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death by age 5 (infantile form) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1567. en:death by age 6-7 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death by age 6-7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1568. en:death can occur in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death can occur in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1569. en:death due to respiratory failure or infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death due to respiratory failure or infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1570. en:death due to respiratory insufficiency within minutes to hours after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death due to respiratory insufficiency within minutes to hours after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1571. en:death frequent in severe infantile form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death frequent in severe infantile form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1572. en:death from stroke if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death from stroke if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1573. en:death in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1574. en:death in childhood is frequent due to respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood is frequent due to respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1575. en:death in childhood may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1576. en:death in childhood may occur due to end-stage renal disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood may occur due to end-stage renal disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1577. en:death in childhood may occur due to infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood may occur due to infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1578. en:death in childhood occurs without bone marrow transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood occurs without bone marrow transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1579. en:death in childhood often results from respiratory insufficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood often results from respiratory insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1580. en:death in childhood secondary to malabsorption --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in childhood secondary to malabsorption | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1581. en:death in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1582. en:death in early childhood has been reported in some presumed homozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in early childhood has been reported in some presumed homozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1583. en:death in early childhood may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in early childhood may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1584. en:death in early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1585. en:death in early infancy (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in early infancy (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1586. en:death in first days of life (family b) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in first days of life (family b) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1587. en:death in first days or months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in first days or months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1588. en:death in first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1589. en:death in first weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in first weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1590. en:death in first-second decade of life secondary to cardio-respiratory compromise --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in first-second decade of life secondary to cardio-respiratory compromise | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1591. en:death in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1592. en:death in infancy (1 patient) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy (1 patient) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1593. en:death in infancy (patient b) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy (patient b) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1594. en:death in infancy common for patients with the classic neonatal form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy common for patients with the classic neonatal form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1595. en:death in infancy due to hyperthermia or apnea --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy due to hyperthermia or apnea | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1596. en:death in infancy in majority of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy in majority of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1597. en:death in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1598. en:death in infancy secondary to kernicterus --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy secondary to kernicterus | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1599. en:death in infancy secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy secondary to pulmonary insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1600. en:death in infancy without bone marrow transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy without bone marrow transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1601. en:death in infancy, usually from sepsis, dehydration, or acidosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in infancy, usually from sepsis, dehydration, or acidosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1602. en:death in neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1603. en:death in teens secondary to cardiac failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in teens secondary to cardiac failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1604. en:death in the fifth or sixth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in the fifth or sixth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1605. en:death in the first decade, usually from liver failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in the first decade, usually from liver failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1606. en:death in the first months or years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in the first months or years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1607. en:death in the first years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in the first years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1608. en:death in the mid-twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in the mid-twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1609. en:death in untreated children --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in untreated children | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1610. en:death in utero --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in utero | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1611. en:death in utero (30%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in utero (30%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1612. en:death in utero or as neonate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in utero or as neonate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1613. en:death in utero or early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in utero or early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1614. en:death in utero or in early infancy is common --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in utero or in early infancy is common | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1615. en:death in utero or in the perinatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death in utero or in the perinatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1616. en:death may occur in childhood due to respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death may occur in childhood due to respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1617. en:death may occur in early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death may occur in early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1618. en:death may occur in late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death may occur in late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1619. en:death may occur in the first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death may occur in the first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1620. en:death occurs 10 to 20 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death occurs 10 to 20 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1621. en:death occurs 5 to 10 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death occurs 5 to 10 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1622. en:death occurs before 12 months of age due to cardiorespiratory arrest --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death occurs before 12 months of age due to cardiorespiratory arrest | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1623. en:death occurs early in neonatal period due to respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death occurs early in neonatal period due to respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1624. en:death occurs in second or third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death occurs in second or third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1625. en:death often before age 2 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often before age 2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1626. en:death often by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1627. en:death often in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1628. en:death often in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1629. en:death often in early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often in early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1630. en:death often in first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often in first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1631. en:death often in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1632. en:death often in the teenage years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often in the teenage years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1633. en:death often occurs during metabolic/acidotic crisis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often occurs during metabolic/acidotic crisis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1634. en:death often occurs in the first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often occurs in the first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1635. en:death often secondary to infectious disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often secondary to infectious disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1636. en:death often secondary to pneumonia or congestive heart failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death often secondary to pneumonia or congestive heart failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1637. en:death secondary to respiratory infection or failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death secondary to respiratory infection or failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1638. en:death secondary to respiratory insufficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death secondary to respiratory insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1639. en:death usually by 1 year of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually by 1 year of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1640. en:death usually by age 10 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually by age 10 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1641. en:death usually by age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually by age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1642. en:death usually due to renal failure by average age 3 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually due to renal failure by average age 3 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1643. en:death usually due to respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually due to respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1644. en:death usually in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1645. en:death usually in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1646. en:death usually in infancy due to respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in infancy due to respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1647. en:death usually in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1648. en:death usually in sixth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in sixth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1649. en:death usually in teenage years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in teenage years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1650. en:death usually in the first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in the first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1651. en:death usually in the perinatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually in the perinatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1652. en:death usually occurs before 5th decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs before 5th decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1653. en:death usually occurs by 12 months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs by 12 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1654. en:death usually occurs by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1655. en:death usually occurs in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1656. en:death usually occurs in early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs in early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1657. en:death usually occurs in first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs in first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1658. en:death usually occurs in infancy or childhood if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs in infancy or childhood if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1659. en:death usually occurs in the first weeks to months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually occurs in the first weeks to months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1660. en:death usually within first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually within first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1661. en:death usually within first weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually within first weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1662. en:death usually within first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death usually within first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1663. en:death within 12 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within 12 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1664. en:death within 3 months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within 3 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1665. en:death within 6 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within 6 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1666. en:death within first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1667. en:death within first months or years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within first months or years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1668. en:death within first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1669. en:death within first year of life in 25% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within first year of life in 25% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1670. en:death within several months if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:death within several months if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1671. en:decrease in frequency and severity of episodes in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:decrease in frequency and severity of episodes in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1672. en:decrease in seizure frequency in middle age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:decrease in seizure frequency in middle age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1673. en:decreased bilirubin concentration with phenobarbital administration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:decreased bilirubin concentration with phenobarbital administration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1674. en:decreased fertility --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:decreased fertility | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1675. en:decreased life expectancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:decreased life expectancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1676. en:decreased penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:decreased penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1677. en:defect in tetrahydrobiopterin (bh4) synthesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:defect in tetrahydrobiopterin (bh4) synthesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1678. en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1679. en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1680. en:delayed psychomotor development apparent in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:delayed psychomotor development apparent in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1681. en:delayed separation of umbilical cord --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:delayed separation of umbilical cord | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1682. en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1683. en:deletion sizes range from 287kb to 4.4mb --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:deletion sizes range from 287kb to 4.4mb | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1684. en:deletions in naip gene (600355) found in 18% of sma2 patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:deletions in naip gene (600355) found in 18% of sma2 patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1685. en:deletions in naip gene (600355) found in 18% of smaii patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:deletions in naip gene (600355) found in 18% of smaii patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1686. en:deletions occur de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:deletions occur de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1687. en:delta-f508 present in 70% of alleles --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:delta-f508 present in 70% of alleles | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1688. en:dermatitis resolves in offspring after zinc supplementation and/or weaning --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1689. en:described in 3 unrelated infants (last curated january 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in 3 unrelated infants (last curated january 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1690. en:described in 6 japanese families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in 6 japanese families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1691. en:described in families from galicia, spain --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in families from galicia, spain | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1692. en:described in families from western japan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in families from western japan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1693. en:described in individuals of jewish bukharian descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in individuals of jewish bukharian descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1694. en:described in individuals of roma gypsy origin (founder mutation) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in individuals of roma gypsy origin (founder mutation) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1695. en:described in one 5-generation pakistani family (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in one 5-generation pakistani family (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1696. en:described in single afrikaner family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described in single afrikaner family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1697. en:described predominantly in families from the philippines --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:described predominantly in families from the philippines | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1698. en:despite voluminous steatorrhea, patients' growth and overall state of health is good --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1699. en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1700. en:detected in 1/50,000 in neonatal screening programs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:detected in 1/50,000 in neonatal screening programs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1701. en:development of afebrile seizures later in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:development of afebrile seizures later in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1702. en:diabetes and anemia respond to high doses of thiamine supplementation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diabetes and anemia respond to high doses of thiamine supplementation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1703. en:diabetes diagnosed in second or third decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diabetes diagnosed in second or third decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1704. en:diabetes mellitus develops in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diabetes mellitus develops in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1705. en:diabetes mellitus diagnosed between third and fifth decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diabetes mellitus diagnosed between third and fifth decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1706. en:diabetes status:prid:pt:^patient:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diabetes status:prid:pt:^patient:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1707. en:diagnosed in second or third decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosed in second or third decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1708. en:diagnosis in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1709. en:diagnosis in seventh decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis in seventh decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1710. en:diagnosis in the second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis in the second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1711. en:diagnosis made if 3/7 defects are present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis made if 3/7 defects are present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1712. en:diagnosis occurs between 23 and 33 weeks' gestation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis occurs between 23 and 33 weeks' gestation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1713. en:diagnosis rarely made before the fourth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis rarely made before the fourth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1714. en:diagnosis typically between age 10-20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diagnosis typically between age 10-20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1715. en:diamond-blackfan anemia 11 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diamond-blackfan anemia 11 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1716. en:diarrhea persists even with vigorous nursing --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diarrhea persists even with vigorous nursing | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1717. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1718. en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1719. en:die at birth or shortly after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:die at birth or shortly after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1720. en:difficulty walking --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:difficulty walking | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1721. en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1722. en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1723. en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1724. en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1725. en:dip is a pathologic diagnosis that may represent other disease entities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dip is a pathologic diagnosis that may represent other disease entities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1726. en:disability by end of first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disability by end of first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1727. en:disease complicated by recurrent sepsis in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disease complicated by recurrent sepsis in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1728. en:disease course depends on age at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disease course depends on age at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1729. en:disease exacerbation during summer due to heat --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disease exacerbation during summer due to heat | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1730. en:disease is life-threatening if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disease is life-threatening if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1731. en:disease is nonprogressive in most patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disease is nonprogressive in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1732. en:disease steadily progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disease steadily progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1733. en:disease usually progresses in a cephalocaudal direction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disease usually progresses in a cephalocaudal direction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1734. 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:one patient reported (last curated november 2012)
    n1=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1735. en:disorder becomes apparent around age 2 years when patients begin to walk --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disorder becomes apparent around age 2 years when patients begin to walk | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1736. en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1737. en:disorder may progress to involve a larger body area --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disorder may progress to involve a larger body area | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1738. en:disorder usually remains stable over time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disorder usually remains stable over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1739. en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1740. en:disproportionately short limbs often noted at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:disproportionately short limbs often noted at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1741. en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1742. en:distinct disorder from autosomal dominant hyper ige syndrome (147060) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1743. en:distinct disorder from familial erythrocytosis (ecyt1, 133100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1744. en:distinct disorder from familial limb-girdle myasthenia (254200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from familial limb-girdle myasthenia (254200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1745. en:distinct disorder from galactosemia (230400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from galactosemia (230400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1746. en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1747. en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1748. en:distinct disorder from myasthenia gravis (mg, 254200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from myasthenia gravis (mg, 254200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1749. en:distinct disorder from parkinson disease (168600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from parkinson disease (168600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1750. en:distinct disorder from reduced zinc in breast milk (608118) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from reduced zinc in breast milk (608118) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1751. en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1752. en:distinct from pili annulati (180600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinct from pili annulati (180600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1753. en:distinctive and stereotyped sequence of events --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinctive and stereotyped sequence of events | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1754. en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1755. en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1756. en:distribution of lesions may be generalized, palmoplantar, or acral --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:distribution of lesions may be generalized, palmoplantar, or acral | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1757. en:diurnal fluctuation of symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diurnal fluctuation of symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1758. en:diurnal fluctuation, more apparent in earlier years, later subsides --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:diurnal fluctuation, more apparent in earlier years, later subsides | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1759. en:does not lead to hepatic failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:does not lead to hepatic failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1760. en:does not result in renal failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:does not result in renal failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1761. en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1762. en:dopa-responsive rigidity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dopa-responsive rigidity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1763. en:dopa-unresponsive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dopa-unresponsive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1764. en:dramatic improvement with proper treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dramatic improvement with proper treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1765. en:dramatic late catch-up growth occurs in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dramatic late catch-up growth occurs in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1766. en:dryness and impaired vision in older adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dryness and impaired vision in older adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1767. en:duane anomaly is not always present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:duane anomaly is not always present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1768. en:due to lack of epidermal ridging, patients lack fingerprints --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:due to lack of epidermal ridging, patients lack fingerprints | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1769. en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1770. en:dysarthria, dysphonia, or cough precede onset of ataxia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysarthria, dysphonia, or cough precede onset of ataxia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1771. en:dyskinesia may be precipitated by alcohol, stress, or fatigue --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1772. en:dyskinesia may occur in homozygotes (1 reported case) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dyskinesia may occur in homozygotes (1 reported case) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1773. en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1774. en:dysmorphic facial features are subtle --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic facial features are subtle | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1775. en:dysmorphic facial features are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic facial features are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1776. en:dysmorphic facial features may not be present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic facial features may not be present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1777. en:dysmorphic facial features reported in 1 family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic facial features reported in 1 family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1778. en:dysmorphic features are mild or variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic features are mild or variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1779. en:dysmorphic features are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic features are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1780. en:dysmorphic features may be subtle --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic features may be subtle | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1781. en:dysmorphic features were only reported in 1 patient --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dysmorphic features were only reported in 1 patient | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1782. en:dystonia and seizures may persist after resolution of episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dystonia and seizures may persist after resolution of episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1783. en:dystonia is usually focal or segmental --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dystonia is usually focal or segmental | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1784. en:dystonia occurs later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:dystonia occurs later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1785. en:earlier onset associated with faster progression and shorter life span --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:earlier onset associated with faster progression and shorter life span | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1786. en:earlier onset associated with increased severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:earlier onset associated with increased severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1787. en:earlier onset is associated with more aggressive disease course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:earlier onset is associated with more aggressive disease course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1788. en:earlier onset is rare --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:earlier onset is rare | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1789. en:earlier onset may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:earlier onset may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1790. en:earliest age of onset 12 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:earliest age of onset 12 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1791. en:earliest symptom onset in sixth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:earliest symptom onset in sixth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1792. en:early age of onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early age of onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1793. en:early age of onset (approximately 45 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early age of onset (approximately 45 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1794. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1795. en:early age of onset, usually less than 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early age of onset, usually less than 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1796. en:early childhood lethality may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early childhood lethality may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1797. en:early childhood onset (before age 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early childhood onset (before age 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1798. en:early death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1799. en:early death (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1800. en:early death (mean age 13 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death (mean age 13 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1801. en:early death due to infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death due to infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1802. en:early death from infection may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death from infection may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1803. en:early death from respiratory failure may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death from respiratory failure may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1804. en:early death in early adulthood often associated with diverticulitis and intestinal perforation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1805. en:early death in patients with cloverleaf skull --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death in patients with cloverleaf skull | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1806. en:early death in some patients due to cardiorespiratory involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death in some patients due to cardiorespiratory involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1807. en:early death in the first few weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death in the first few weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1808. en:early death may occur due to infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death may occur due to infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1809. en:early death may occur from cardiogenic shock preceded by arrhythmia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death may occur from cardiogenic shock preceded by arrhythmia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1810. en:early death may occur without bone marrow transplant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death may occur without bone marrow transplant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1811. en:early death often due to respiratory complications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death often due to respiratory complications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1812. en:early death often occurs from cardiac failure or infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death often occurs from cardiac failure or infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1813. en:early death without bone marrow transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death without bone marrow transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1814. en:early death without kidney transplant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death without kidney transplant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1815. en:early death, usually before age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early death, usually before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1816. en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1817. en:early diagnosis and treatment prevent many complications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early diagnosis and treatment prevent many complications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1818. en:early exhaustion on exertion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early exhaustion on exertion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1819. en:early lethality --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early lethality | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1820. en:early lethality in most cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early lethality in most cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1821. en:early onset (1 month to 4 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset (1 month to 4 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1822. en:early onset (average 1 year) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset (average 1 year) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1823. en:early onset has rarely been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset has rarely been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1824. en:early onset in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1825. en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1826. en:early onset of symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset of symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1827. en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1828. en:early onset, between 35-60 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early onset, between 35-60 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1829. en:early treatment can reduce neurologic symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early treatment can reduce neurologic symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1830. en:early-onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early-onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1831. en:early-onset associated with more severe course and early death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early-onset associated with more severe course and early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1832. en:early-onset severe renal disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:early-onset severe renal disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1833. en:echocardiogram and ophthalmologic examination normal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:echocardiogram and ophthalmologic examination normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1834. en:eight patients from 2 unrelated families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1835. en:eight unrelated patients have been reported (as of september 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:eight unrelated patients have been reported (as of september 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1836. en:electrolyte imbalances can mimic renal bartter syndrome (601678) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1837. en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1838. en:electroretinogram reduction as early as 4 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:electroretinogram reduction as early as 4 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1839. en:elevated afp can be seen in other disorders --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:elevated afp can be seen in other disorders | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1840. en:empiric risk for a sib of an affected child between 2 and 5% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:empiric risk for a sib of an affected child between 2 and 5% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1841. en:encephalopathic episodes associated with increased serum and csf lactate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:encephalopathic episodes associated with increased serum and csf lactate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1842. en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1843. en:end-stage renal failure in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:end-stage renal failure in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1844. en:end-stage renal failure in first or second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:end-stage renal failure in first or second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1845. en:endocrine abnormalities confined to kidney --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:endocrine abnormalities confined to kidney | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1846. en:endocrine and neurologic defects may become apparent later in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:endocrine and neurologic defects may become apparent later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1847. en:endocrine defects evolve over time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:endocrine defects evolve over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1848. 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:one patient reported (last curated november 2012)
    n1=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1849. en:enterocolitis tends to remit with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:enterocolitis tends to remit with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1850. en:environmental triggers - cold and wet exposure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:environmental triggers - cold and wet exposure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1851. en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1852. en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1853. en:epilepsy with grand mal seizures on awakening (egma, 607628) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:epilepsy with grand mal seizures on awakening (egma, 607628) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1854. en:epiphyseal stippling is gone by 8 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:epiphyseal stippling is gone by 8 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1855. en:episode, syncopal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episode, syncopal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1856. en:episodes are followed by exhaustion and sleep --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes are followed by exhaustion and sleep | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1857. en:episodes are triggered by cold exposure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes are triggered by cold exposure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1858. en:episodes are triggered by fatigue, illness, or strenuous exercise --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes are triggered by fatigue, illness, or strenuous exercise | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1859. en:episodes are triggered by hunger, fatigue, cold, stress --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes are triggered by hunger, fatigue, cold, stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1860. en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1861. en:episodes brought on by fasting or infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes brought on by fasting or infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1862. en:episodes last 1 to 2 days --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes last 1 to 2 days | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1863. en:episodes last 2 days to 1 week --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes last 2 days to 1 week | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1864. en:episodes last about 1.5 hours --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes last about 1.5 hours | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1865. en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1866. en:episodes not triggered by alcohol, caffeine, or stress --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes not triggered by alcohol, caffeine, or stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1867. en:episodes of fatigue or weakness (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes of fatigue or weakness (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1868. en:episodes tend to decrease with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes tend to decrease with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1869. en:episodes triggered by fasting, illness, fever --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes triggered by fasting, illness, fever | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1870. en:episodes typically last 2 to 5 minutes and occur daily or several times per month --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1871. en:episodes usually last 1 to 2 days --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodes usually last 1 to 2 days | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1872. en:episodic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1873. en:episodic decompensation is usually triggered by illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodic decompensation is usually triggered by illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1874. en:episodic metabolic decompensation usually associated with illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:episodic metabolic decompensation usually associated with illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1875. en:erythema accompanied by stinging or burning sensation in some cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:erythema accompanied by stinging or burning sensation in some cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1876. en:erythema often triggered by sudden temperature change or emotional stress --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:erythema often triggered by sudden temperature change or emotional stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1877. en:estimated carrier frequency 1/100 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated carrier frequency 1/100 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1878. en:estimated carrier frequency in charlevoix-saguenay region is 1/22 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1879. en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1880. en:estimated frequency 1.6 cases/10,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated frequency 1.6 cases/10,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1881. en:estimated frequency of 1 in 40,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated frequency of 1 in 40,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1882. en:estimated gene carrier frequency of 1 in 5,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated gene carrier frequency of 1 in 5,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1883. en:estimated incidence 1/20,000 - 1/40,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated incidence 1/20,000 - 1/40,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1884. en:estimated incidence of 1 in 17,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated incidence of 1 in 17,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1885. en:estimated mutation carrier rate of 1 in 350 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated mutation carrier rate of 1 in 350 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1886. en:estimated population frequency of 1 in 13,000-20,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated population frequency of 1 in 13,000-20,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1887. en:estimated prevalence of 1 in 16,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated prevalence of 1 in 16,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1888. en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1889. en:evidence of incomplete penetrance in one family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:evidence of incomplete penetrance in one family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1890. en:evidence of prenatal fractures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:evidence of prenatal fractures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1891. en:evidence of systemic iron overload seen in 1 family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:evidence of systemic iron overload seen in 1 family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1892. en:exacerbation at puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exacerbation at puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1893. en:exacerbation during febrile episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exacerbation during febrile episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1894. en:exacerbation following stress, decreased food intake, or alcohol use --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exacerbation following stress, decreased food intake, or alcohol use | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1895. en:exacerbation of symptoms during or after pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exacerbation of symptoms during or after pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1896. en:exacerbation or regression during viral infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exacerbation or regression during viral infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1897. en:exacerbations during infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exacerbations during infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1898. en:excessive posttraumatic blood loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:excessive posttraumatic blood loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1899. en:exercise intolerance often evident in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exercise intolerance often evident in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1900. en:existence as a distinct entity is not confirmed --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:existence as a distinct entity is not confirmed | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1901. en:exon 7 of smn1 is absent in 95.6% of sma1 patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1902. en:expression more severe in females than males, except for mosaic males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:expression more severe in females than males, except for mosaic males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1903. en:extracutaneous manifestations are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:extracutaneous manifestations are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1904. en:extreme clinical heterogeneity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:extreme clinical heterogeneity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1905. en:extreme phenotypic variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:extreme phenotypic variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1906. en:extreme sensitivity to chemotherapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:extreme sensitivity to chemotherapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1907. en:extreme variability in severity of features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:extreme variability in severity of features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1908. en:extremely variable phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:extremely variable phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1909. en:eye and vestibular findings were found in some members of one family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:eye and vestibular findings were found in some members of one family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1910. en:f syndrome (102510) has many overlapping features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:f syndrome (102510) has many overlapping features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1911. en:facial appearance becomes more apparent with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:facial appearance becomes more apparent with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1912. en:facial dysmorphic features may not be present and may become less apparent in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:facial dysmorphic features may not be present and may become less apparent in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1913. en:facial dysmorphism is age-related and alters substantially over time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:facial dysmorphism is age-related and alters substantially over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1914. en:familial (10%) and isolated cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:familial (10%) and isolated cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1915. en:familial cases are rare and show incomplete penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:familial cases are rare and show incomplete penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1916. en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1917. en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1918. en:familial form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:familial form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1919. en:familial form - constitutional deficiency of vwf-cleaving protease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:familial form - constitutional deficiency of vwf-cleaving protease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1920. en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1921. en:families a and b had a more severe phenotype resulting in death in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:families a and b had a more severe phenotype resulting in death in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1922. en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1923. en:family b had a milder phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:family b had a milder phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1924. en:family c had a milder phenotype with survival into adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:family c had a milder phenotype with survival into adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1925. en:family history of sudden death, as early as fourth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:family history of sudden death, as early as fourth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1926. en:fasting status:prthr:pt:^patient:ord:reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fasting status:prthr:pt:^patient:ord:reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1927. en:fat pads become less prominent with time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fat pads become less prominent with time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1928. en:fatal if renal transplant is not performed --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal if renal transplant is not performed | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1929. en:fatal in first few months of life in most cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal in first few months of life in most cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1930. en:fatal in the neonatal period (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal in the neonatal period (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1931. en:fatal multiorgan failure due to severe inflammatory response in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal multiorgan failure due to severe inflammatory response in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1932. en:fatal outcome if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal outcome if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1933. en:fatal without bone marrow transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal without bone marrow transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1934. en:fatal without hematopoietic stem cell transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal without hematopoietic stem cell transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1935. en:fatal without lung transplant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatal without lung transplant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1936. en:fatigue --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fatigue | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1937. en:favorable initial response to l-dopa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable initial response to l-dopa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1938. en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1939. en:favorable response of episodic attacks to acetazolamide --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response of episodic attacks to acetazolamide | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1940. en:favorable response of seizures to a ketogenic diet --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response of seizures to a ketogenic diet | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1941. en:favorable response to a ketogenic diet --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to a ketogenic diet | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1942. en:favorable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to acetylcholinesterase inhibitors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1943. en:favorable response to alcohol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to alcohol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1944. en:favorable response to alcohol in about 50% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to alcohol in about 50% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1945. en:favorable response to antibodies against tnf-alpha (tnfa, 191160) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1946. en:favorable response to anticholinesterase medication --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to anticholinesterase medication | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1947. en:favorable response to anticonvulsants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to anticonvulsants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1948. en:favorable response to antiepileptic medication --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to antiepileptic medication | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1949. en:favorable response to bh4 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to bh4 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1950. en:favorable response to bh4 therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to bh4 therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1951. en:favorable response to cholinesterase inhibitors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to cholinesterase inhibitors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1952. en:favorable response to clonazepam --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to clonazepam | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1953. en:favorable response to corticosteroid treatment (1 family) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to corticosteroid treatment (1 family) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1954. en:favorable response to flunarizine --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to flunarizine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1955. en:favorable response to high-dose steroids --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to high-dose steroids | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1956. en:favorable response to hydroxychloroquine treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to hydroxychloroquine treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1957. en:favorable response to immunotherapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to immunotherapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1958. en:favorable response to intermittent, low-dose steroid therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to intermittent, low-dose steroid therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1959. en:favorable response to l-dopa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to l-dopa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1960. en:favorable response to l-dopa treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to l-dopa treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1961. en:favorable response to l-dopa without side effects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to l-dopa without side effects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1962. en:favorable response to lenalidomide treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to lenalidomide treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1963. en:favorable response to oral bile acid therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to oral bile acid therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1964. en:favorable response to oral creatine treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to oral creatine treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1965. en:favorable response to rituxan (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to rituxan (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1966. en:favorable response to sodium chloride treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to sodium chloride treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1967. en:favorable response to spironolactone --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to spironolactone | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1968. en:favorable response to treatment with cholinesterase inhibitors or amifampridine --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1969. en:favorable response to treatment with coenzyme q10 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to treatment with coenzyme q10 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1970. en:favorable response to treatment with minocycline or azithromycin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to treatment with minocycline or azithromycin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1971. en:favorable response to treatment with riboflavin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to treatment with riboflavin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1972. en:favorable response to ursodeoxycholic acid treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favorable response to ursodeoxycholic acid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1973. en:favoring of fat and protein --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:favoring of fat and protein | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1974. en:features are highly variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features are highly variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1975. en:features are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1976. en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1977. en:features in addition to mental retardation are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features in addition to mental retardation are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1978. en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1979. en:features intermediate between demyelinating cmt and axonal cmt --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features intermediate between demyelinating cmt and axonal cmt | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1980. en:features may be bilateral (15/24) or left side (9/24) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features may be bilateral (15/24) or left side (9/24) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1981. en:features occur episodically --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features occur episodically | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1982. en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1983. en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1984. en:features usually appear during adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:features usually appear during adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1985. en:febrile attacks disappear in adulthood in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:febrile attacks disappear in adulthood in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1986. en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1987. en:febrile seizures remit by age 5 or 6 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:febrile seizures remit by age 5 or 6 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1988. en:febrile seizures show onset between 6 months and 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:febrile seizures show onset between 6 months and 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1989. en:feeding difficulties in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:feeding difficulties in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1990. en:feeding difficulties, including aspiration, ameliorate with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:feeding difficulties, including aspiration, ameliorate with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1991. en:feet are unaffected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:feet are unaffected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1992. en:feet are unaffected in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:feet are unaffected in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1993. en:female carriers are unaffected or show neuropsychiatric features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers are unaffected or show neuropsychiatric features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1994. en:female carriers exhibit short stature --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers exhibit short stature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1995. en:female carriers experience significant clinical manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers experience significant clinical manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1996. en:female carriers may be less severely affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may be less severely affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1997. en:female carriers may develop mild hearing loss as adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may develop mild hearing loss as adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1998. en:female carriers may have asymptomatic proteinuria or hypercalciuria --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have asymptomatic proteinuria or hypercalciuria | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  1999. en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2000. en:female carriers may have cardiac defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have cardiac defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2001. en:female carriers may have hearing loss and/or subclinical peripheral neuropathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2002. en:female carriers may have mild hearing impairment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have mild hearing impairment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2003. en:female carriers may have mild hearing impairment and/or mild signs of choroideremia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2004. en:female carriers may have mild mental retardation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have mild mental retardation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2005. en:female carriers may have short stature and premature ovarian failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have short stature and premature ovarian failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2006. en:female carriers may have subtle manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may have subtle manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2007. en:female carriers may show mild learning disabilities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may show mild learning disabilities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2008. en:female carriers may show some manifestations, such as hearing impairment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female carriers may show some manifestations, such as hearing impairment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2009. en:female mutation carriers are less severely affected than male mutation carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female mutation carriers are less severely affected than male mutation carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2010. en:female mutation carriers have earlier age at onset compared to male mutation carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female mutation carriers have earlier age at onset compared to male mutation carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2011. en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2012. en:female predominance (4:1) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female predominance (4:1) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2013. en:female preponderance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female preponderance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2014. en:female to male ratio 5:1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female to male ratio 5:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2015. en:female to male ratio 8-13:1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female to male ratio 8-13:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2016. en:female to male ratio ranges from 2:1 to 4:1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female to male ratio ranges from 2:1 to 4:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2017. en:female to male ratio, 1:1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:female to male ratio, 1:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2018. en:females are more often affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females are more often affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2019. en:females are most often affected, but rare male cases have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females are most often affected, but rare male cases have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2020. en:females carriers have more variable age at onset and severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females carriers have more variable age at onset and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2021. en:females demonstrate lyonization with corresponding phenotypic variation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females demonstrate lyonization with corresponding phenotypic variation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2022. en:females have milder manifestations than males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females have milder manifestations than males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2023. en:females may be unaffected or mildly affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females may be unaffected or mildly affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2024. en:females more severely affected than males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females more severely affected than males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2025. en:females tend to have earlier onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:females tend to have earlier onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2026. en:fetal death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fetal death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2027. en:fetal death may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fetal death may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2028. en:fetal death usually occurs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fetal death usually occurs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2029. en:fever of unknown origin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fever of unknown origin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2030. en:fever, muscle cramping, and poor feeding remit by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fever, muscle cramping, and poor feeding remit by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2031. en:few patients with mild to moderate mental retardation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:few patients with mild to moderate mental retardation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2032. en:fifty percent of cases are sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fifty percent of cases are sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2033. en:fifty percent of cases secondary to new mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fifty percent of cases secondary to new mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2034. en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2035. en:figure associated with report or note:-:point in time:^patient:- --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:figure associated with report or note:-:point in time:^patient:- | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2036. en:findings in muscle biopsy may be variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:findings in muscle biopsy may be variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2037. en:first described in acadian population of louisiana --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:first described in acadian population of louisiana | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2038. en:first described in gypsy group from bulgaria --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:first described in gypsy group from bulgaria | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2039. en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2040. en:first identified in individuals of cypriot origin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:first identified in individuals of cypriot origin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2041. en:first name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:first name:pn:pt:^guardian or legally authorized representative:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2042. en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2043. en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2044. en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2045. en:five clinical variants of msud unassociated with genotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five clinical variants of msud unassociated with genotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2046. en:five patients from 3 unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five patients from 3 unrelated families have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2047. en:five patients have been reported (as of 8/2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five patients have been reported (as of 8/2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2048. en:five patients have been reported (as of april 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five patients have been reported (as of april 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2049. en:five patients have been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five patients have been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2050. en:five patients reported (as of march 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five patients reported (as of march 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2051. en:five reported patients, all boys (as of july 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five reported patients, all boys (as of july 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2052. en:five unrelated cases have been reported (as of march 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five unrelated cases have been reported (as of march 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2053. en:five unrelated patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five unrelated patients have been reported (as of december 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2054. en:five unrelated patients have been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five unrelated patients have been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2055. en:five unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five unrelated patients have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2056. en:five unrelated patients have been reported (nov. 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:five unrelated patients have been reported (nov. 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2057. en:flares triggered by viral infection, overexertion, stress --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:flares triggered by viral infection, overexertion, stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2058. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2059. en:flunarizine treatment may be beneficial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:flunarizine treatment may be beneficial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2060. en:fluoxetine therapy may be effective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fluoxetine therapy may be effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2061. en:focal or segmental onset in cranial-cervical area or upper limbs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:focal or segmental onset in cranial-cervical area or upper limbs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2062. en:following fever in infancy, muscular weakness and poor growth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:following fever in infancy, muscular weakness and poor growth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2063. en:food intolerance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:food intolerance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2064. en:food related behavioral problems include excessive appetite and obsession with eating --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:food related behavioral problems include excessive appetite and obsession with eating | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2065. en:foot dragging may appear in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:foot dragging may appear in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2066. en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2067. en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2068. en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2069. en:for similar autosomal dominant form, see 162350 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:for similar autosomal dominant form, see 162350 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2070. en:for similar autosomal recessive form, see cln4 (204300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:for similar autosomal recessive form, see cln4 (204300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2071. en:forty percent of patients die in the first year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:forty percent of patients die in the first year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2072. en:found predominantly in the amish population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:found predominantly in the amish population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2073. en:founder effect in irish traveler population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:founder effect in irish traveler population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2074. en:founder effect in turkish families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:founder effect in turkish families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2075. en:four cases have been reported, all female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four cases have been reported, all female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2076. en:four clinical forms of krabbe disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four clinical forms of krabbe disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2077. en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2078. en:four clinically indistinguishable biochemically distinct forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four clinically indistinguishable biochemically distinct forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2079. en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2080. en:four families have been reported (last curated june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four families have been reported (last curated june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2081. en:four families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four families have been reported (last curated october 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2082. en:four individual patients and 1 saudi family have been reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four individual patients and 1 saudi family have been reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2083. en:four major groups: early infantile, late infantile, juvenile, adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four major groups: early infantile, late infantile, juvenile, adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2084. en:four patients from 2 unrelated families have been reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 2 unrelated families have been reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2085. en:four patients from 3 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 families have been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2086. en:four patients from 3 families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 families have been reported (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2087. en:four patients from 3 families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 families have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2088. en:four patients from 3 families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 families have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2089. en:four patients from 3 families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 families have been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2090. en:four patients from 3 unrelated families have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 unrelated families have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2091. en:four patients from 3 unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients from 3 unrelated families have been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2092. en:four patients have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2093. en:four patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients have been reported (as of december 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2094. en:four patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients have been reported (as of july 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2095. en:four patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients have been reported (last curated june 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2096. en:four patients have been reported from pakistan (as of march 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients have been reported from pakistan (as of march 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2097. 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:one patient reported (last curated november 2012)
    n1=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2098. en:four patients reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four patients reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2099. en:four sibs from the old order mennonite community has been reported (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2100. en:four types of cgd with basically identical clinical phenotypes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four types of cgd with basically identical clinical phenotypes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2101. en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2102. en:four unrelated boys have been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated boys have been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2103. en:four unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated families have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2104. en:four unrelated families of caucasian european descent have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2105. en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2106. en:four unrelated patients have been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients have been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2107. en:four unrelated patients have been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2108. en:four unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2109. en:four unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2110. en:four unrelated patients have been reported (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients have been reported (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2111. en:four unrelated patients have been reported (last curated october 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients have been reported (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2112. en:four unrelated patients have been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2113. en:four unrelated patients reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2114. en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2115. en:fracture frequency constant through childhood, decreases after puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fracture frequency constant through childhood, decreases after puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2116. en:fracture frequency increases after menopause and in men ages 60-80 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fracture frequency increases after menopause and in men ages 60-80 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2117. en:fractures occur in first few months, then decrease in frequency and then occur with ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2118. en:fractures often heal without deformity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:fractures often heal without deformity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2119. en:frequency 1/100,000 - 1/130,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequency 1/100,000 - 1/130,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2120. en:frequency and severity of seizures tends to decrease with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequency and severity of seizures tends to decrease with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2121. en:frequency between 1 in 58,000 to 1 in 1,000,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequency between 1 in 58,000 to 1 in 1,000,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2122. en:frequency increases with advancing age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequency increases with advancing age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2123. en:frequency of attack, monthly - bimonthly --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequency of attack, monthly - bimonthly | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2124. en:frequency of attacks may decrease with age or during pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequency of attacks may decrease with age or during pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2125. en:frequency of episodes ranges from several per week to several per year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequency of episodes ranges from several per week to several per year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2126. en:frequent falls --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequent falls | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2127. en:frequent neonatal sudden death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequent neonatal sudden death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2128. en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2129. en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2130. en:frequently death in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequently death in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2131. en:frequently fatal within the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequently fatal within the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2132. en:frequently occurs in navajo children, especially in western reservations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frequently occurs in navajo children, especially in western reservations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2133. en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2134. en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2135. en:funduscopy before 2 years of age is unremarkable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:funduscopy before 2 years of age is unremarkable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2136. en:gait abnormality --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gait abnormality | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2137. en:gait difficulties and beginning of cognitive decline in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gait difficulties and beginning of cognitive decline in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2138. en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2139. en:gastrointestinal anomalies are not always present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gastrointestinal anomalies are not always present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2140. en:gei (gene-environment interaction) - association of cardiac events with drug administration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gei (gene-environment interaction) - association of cardiac events with drug administration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2141. en:gender-specific phenotype (homozygous men are fertile) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gender-specific phenotype (homozygous men are fertile) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2142. en:gene frequency in northwest puerto rico 1 in 18 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gene frequency in northwest puerto rico 1 in 18 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2143. en:generalized dystonia in some cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:generalized dystonia in some cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2144. en:generalized fatigue --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:generalized fatigue | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2145. en:generally benign disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:generally benign disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2146. en:generally considered to be a benign disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:generally considered to be a benign disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2147. en:generally mild phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:generally mild phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2148. en:generally static disease course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:generally static disease course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2149. en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2150. en:genetic anticipation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic anticipation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2151. en:genetic anticipation associated with progressive telomere shortening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic anticipation associated with progressive telomere shortening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2152. en:genetic anticipation has been observed --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic anticipation has been observed | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2153. en:genetic anticipation occurs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic anticipation occurs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2154. en:genetic heterogeneity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2155. en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2156. en:genetic heterogeneity (bor2, 610896) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (bor2, 610896) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2157. en:genetic heterogeneity (ccm2 603284, ccm3 603285) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2158. en:genetic heterogeneity (see 125800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 125800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2159. en:genetic heterogeneity (see 145410) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 145410) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2160. en:genetic heterogeneity (see 157640) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 157640) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2161. en:genetic heterogeneity (see 159900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 159900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2162. en:genetic heterogeneity (see 161400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 161400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2163. en:genetic heterogeneity (see 166600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 166600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2164. en:genetic heterogeneity (see 191100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 191100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2165. en:genetic heterogeneity (see 192600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 192600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2166. en:genetic heterogeneity (see 209850) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 209850) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2167. en:genetic heterogeneity (see 213300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 213300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2168. en:genetic heterogeneity (see 214300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 214300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2169. en:genetic heterogeneity (see 259700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 259700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2170. en:genetic heterogeneity (see 266900 for summary) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 266900 for summary) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2171. en:genetic heterogeneity (see 304800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 304800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2172. en:genetic heterogeneity (see 601680) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 601680) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2173. en:genetic heterogeneity (see 604559) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 604559) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2174. en:genetic heterogeneity (see 606215) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 606215) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2175. en:genetic heterogeneity (see 607634) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 607634) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2176. en:genetic heterogeneity (see 608638) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 608638) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2177. en:genetic heterogeneity (see 610168) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 610168) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2178. en:genetic heterogeneity (see 613254) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see 613254) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2179. en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2180. en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2181. en:genetic heterogeneity (see bafme2, 607876) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see bafme2, 607876) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2182. en:genetic heterogeneity (see bfic2, 605751) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see bfic2, 605751) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2183. en:genetic heterogeneity (see bscl1, 608594) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see bscl1, 608594) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2184. en:genetic heterogeneity (see bscl2, 269700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see bscl2, 269700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2185. en:genetic heterogeneity (see cftd1, 255310) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cftd1, 255310) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2186. en:genetic heterogeneity (see cms1a1, 605809) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cms1a1, 605809) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2187. en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2188. en:genetic heterogeneity (see cmt1b 118200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt1b 118200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2189. en:genetic heterogeneity (see cmt2a 118210) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt2a 118210) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2190. en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2191. en:genetic heterogeneity (see cmt2b2, 605589) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt2b2, 605589) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2192. en:genetic heterogeneity (see cmt4a 214400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt4a 214400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2193. en:genetic heterogeneity (see cmt4b1, 601382) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt4b1, 601382) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2194. en:genetic heterogeneity (see cmt4b2, 604563) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmt4b2, 604563) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2195. en:genetic heterogeneity (see cmtdia 606483) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cmtdia 606483) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2196. en:genetic heterogeneity (see cnc2, 605244) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see cnc2, 605244) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2197. en:genetic heterogeneity (see coxpd1, 609060) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see coxpd1, 609060) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2198. en:genetic heterogeneity (see ebn2 121201, ebn3 608217) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2199. en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2200. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2201. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2202. en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2203. en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2204. en:genetic heterogeneity (see enfl1, 600513) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see enfl1, 600513) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2205. en:genetic heterogeneity (see etl2, 608096) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see etl2, 608096) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2206. en:genetic heterogeneity (see feb1 121210) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see feb1 121210) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2207. en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2208. en:genetic heterogeneity (see gefs+, 604233) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see gefs+, 604233) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2209. en:genetic heterogeneity (see hcfp1, 601471) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see hcfp1, 601471) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2210. en:genetic heterogeneity (see hcfp2, 604185) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see hcfp2, 604185) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2211. en:genetic heterogeneity (see hhf1 256450) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see hhf1 256450) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2212. en:genetic heterogeneity (see hht1, 187300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see hht1, 187300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2213. en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2214. en:genetic heterogeneity (see lgmd1a 159000 for overview) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see lgmd1a 159000 for overview) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2215. en:genetic heterogeneity (see lqt1 192500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see lqt1 192500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2216. en:genetic heterogeneity (see mada, 248370) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see mada, 248370) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2217. en:genetic heterogeneity (see madb, 608612) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see madb, 608612) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2218. en:genetic heterogeneity (see mcc2 deficiency 210210) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see mcc2 deficiency 210210) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2219. en:genetic heterogeneity (see npc1, 257220) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see npc1, 257220) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2220. en:genetic heterogeneity (see npc2, 607625) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see npc2, 607625) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2221. en:genetic heterogeneity (see ofc1, 119530) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see ofc1, 119530) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2222. en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2223. en:genetic heterogeneity (see pfic1, 211600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see pfic1, 211600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2224. en:genetic heterogeneity (see pfm1, 168500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see pfm1, 168500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2225. en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2226. en:genetic heterogeneity (see psnp1 601104) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see psnp1 601104) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2227. en:genetic heterogeneity (see psnp2 609454) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see psnp2 609454) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2228. en:genetic heterogeneity (see rieg2, 601499) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see rieg2, 601499) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2229. en:genetic heterogeneity (see rls2, 608831) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see rls2, 608831) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2230. en:genetic heterogeneity (see rmd, 606072) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see rmd, 606072) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2231. en:genetic heterogeneity (see rmd1, 600332) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see rmd1, 600332) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2232. en:genetic heterogeneity (see sca1, 164000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see sca1, 164000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2233. en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2234. en:genetic heterogeneity (see, e.g., 600795, 105550) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., 600795, 105550) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2235. en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2236. en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2237. en:genetic heterogeneity (see, e.g., atfb1, 608583) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., atfb1, 608583) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2238. en:genetic heterogeneity (see, e.g., atfb3, 607554) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., atfb3, 607554) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2239. en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2240. en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2241. en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2242. en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2243. en:genetic heterogeneity (sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (sli2 606712, sli3 607134) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2244. en:genetic heterogeneity (x-linked form 305100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity (x-linked form 305100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2245. en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2246. en:genetic heterogeneity of axonal cmt (see cmt2a 118210) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2247. en:genetic heterogeneity of waardenburg syndrome type 2 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity of waardenburg syndrome type 2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2248. en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2249. en:genetic heterogeneity, see (203300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see (203300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2250. en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2251. en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2252. en:genetic heterogeneity, see apmr1 (203650) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see apmr1 (203650) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2253. en:genetic heterogeneity, see aprm2 (610422) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see aprm2 (610422) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2254. en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2255. en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2256. en:genetic heterogeneity, see cild1 (244400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see cild1 (244400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2257. en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2258. en:genetic heterogeneity, see ekd1 (128200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see ekd1 (128200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2259. en:genetic heterogeneity, see evr1 (133780) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see evr1 (133780) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2260. en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2261. en:genetic heterogeneity, see fhm1 141500 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see fhm1 141500 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2262. en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2263. en:genetic heterogeneity, see lgmd2a (253600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see lgmd2a (253600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2264. en:genetic heterogeneity, see mgr1 (157300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see mgr1 (157300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2265. en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2266. en:genetic heterogeneity, see ppnad1 (610489) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see ppnad1 (610489) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2267. en:genetic heterogeneity, see ppnad2 (610475) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see ppnad2 (610475) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2268. en:genetic heterogeneity, see sca1 (164400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see sca1 (164400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2269. en:genetic heterogeneity, see spg3a (182600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see spg3a (182600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2270. en:genetic heterogeneity, see spg5a (270800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see spg5a (270800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2271. en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2272. en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2273. en:genetic heterogeneity, some patients not linked to fgfr3 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genetic heterogeneity, some patients not linked to fgfr3 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2274. 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:one patient reported (last curated november 2012)
    n1=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2275. en:genomic duplications occur de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:genomic duplications occur de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2276. en:germline and somatic mutations contribute to this disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:germline and somatic mutations contribute to this disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2277. en:germline or somatic mutations may cause the disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:germline or somatic mutations may cause the disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2278. en:gestational age:time:pt:^fetus:qn:amniocentesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gestational age:time:pt:^fetus:qn:amniocentesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2279. en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2280. en:global developmental delay --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:global developmental delay | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2281. en:glucocorticoid deficiency occurs in mid-childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:glucocorticoid deficiency occurs in mid-childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2282. en:gms is goniodysgenesis, mental deficiency, and short stature --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gms is goniodysgenesis, mental deficiency, and short stature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2283. en:gonadal mosaicism may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gonadal mosaicism may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2284. en:gonadal mosaicism reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gonadal mosaicism reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2285. en:good response to clonazepam --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to clonazepam | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2286. en:good response to fibrinolytic inhibitors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to fibrinolytic inhibitors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2287. en:good response to gaba-enhancing medications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to gaba-enhancing medications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2288. en:good response to immunotherapy (intravenous igg or plasmapheresis) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to immunotherapy (intravenous igg or plasmapheresis) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2289. en:good response to l-dopa initially --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to l-dopa initially | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2290. en:good response to levodopa treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to levodopa treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2291. en:good response to medication --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to medication | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2292. en:good response to phosphate treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to phosphate treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2293. en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2294. en:good response to vitamin d treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good response to vitamin d treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2295. en:good seizure control with medication --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:good seizure control with medication | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2296. en:gradual progression of hearing loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gradual progression of hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2297. en:gradual spontaneous improvement in the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gradual spontaneous improvement in the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2298. en:greater expression in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:greater expression in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2299. en:green color resolves if cholestasis is treated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:green color resolves if cholestasis is treated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2300. en:green jaundice occurs only in the context of liver failure or obstructive cholestasis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2301. en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2302. en:group a patients die in the first years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:group a patients die in the first years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2303. en:group a, found in north american indians, has lactic acidosis and psychomotor retardation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2304. en:group b patients die by 3 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:group b patients die by 3 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2305. en:group b, found in france and united kingdom, severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:group b, found in france and united kingdom, severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2306. en:group c is relatively benign --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:group c is relatively benign | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2307. en:growth retardation onset in utero --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:growth retardation onset in utero | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2308. en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2309. en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2310. en:hair loss begins in first years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hair loss begins in first years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2311. en:hair may normalize at puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hair may normalize at puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2312. en:hair phenotype present at birth and involves entire scalp region --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hair phenotype present at birth and involves entire scalp region | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2313. en:hair tends to straighten by 2nd-3rd decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hair tends to straighten by 2nd-3rd decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2314. en:hair, nails, and teeth are normal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hair, nails, and teeth are normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2315. en:hairy elbows become apparent in infancy and regress during adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hairy elbows become apparent in infancy and regress during adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2316. en:half (50%) of affected patients have a recurrent episode with worse outcome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:half (50%) of affected patients have a recurrent episode with worse outcome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2317. en:half of cases show retarded head circumference equal to height retardation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:half of cases show retarded head circumference equal to height retardation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2318. en:hand involvement improves with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hand involvement improves with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2319. en:haploinsufficiency of grn (138945) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:haploinsufficiency of grn (138945) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2320. en:haploinsufficiency of rps14 (130620) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:haploinsufficiency of rps14 (130620) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2321. en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2322. en:has been described in patients of caucasus jewish origin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:has been described in patients of caucasus jewish origin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2323. en:headache duration 4-72 hours --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:headache duration 4-72 hours | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2324. en:headaches last hours to days --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:headaches last hours to days | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2325. en:health data repository:id:pt:repository:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:health data repository:id:pt:repository:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2326. en:health insurance plan benefits comment:finding:point in time:^patient:narrative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2327. en:hearing impairment may improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing impairment may improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2328. en:hearing loss affects all frequencies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss affects all frequencies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2329. en:hearing loss and hoarseness occur later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss and hoarseness occur later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2330. en:hearing loss and ocular findings are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss and ocular findings are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2331. en:hearing loss is congenital and nonprogressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss is congenital and nonprogressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2332. en:hearing loss is nonprogressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss is nonprogressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2333. en:hearing loss is pre- or perilingual in onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss is pre- or perilingual in onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2334. en:hearing loss is progressive and initially affects high-frequencies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss is progressive and initially affects high-frequencies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2335. en:hearing loss is usually severe by age 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss is usually severe by age 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2336. en:hearing loss is variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss is variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2337. en:hearing loss ma be fluctuating or progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss ma be fluctuating or progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2338. en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2339. en:hearing loss may be stable or progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss may be stable or progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2340. en:hearing loss may vary in severity and range between ears --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss may vary in severity and range between ears | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2341. en:hearing loss progresses to profound deafness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss progresses to profound deafness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2342. en:hearing loss typically begins between 3 and 4 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss typically begins between 3 and 4 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2343. en:hearing loss was diagnosed between 3 months to 1 year of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss was diagnosed between 3 months to 1 year of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2344. en:hearing loss was progressive in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hearing loss was progressive in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2345. en:hematuria may become apparent after respiratory infections (synpharyngitic) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hematuria may become apparent after respiratory infections (synpharyngitic) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2346. en:hemolysis may be exercise-induced --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hemolysis may be exercise-induced | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2347. en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2348. en:hernia occurs in 22% of adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hernia occurs in 22% of adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2349. en:heterogeneous disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterogeneous disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2350. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2351. en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2352. en:heterozygotes are usually asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes are usually asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2353. en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2354. en:heterozygotes exhibit blue sclerae and soft velvety skin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes exhibit blue sclerae and soft velvety skin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2355. en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2356. en:heterozygotes have half-normal levels of apob-containing lipoproteins --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes have half-normal levels of apob-containing lipoproteins | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2357. en:heterozygotes have mild, transient hypothyroidism in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes have mild, transient hypothyroidism in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2358. 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:one patient reported (last curated november 2012)
    n1=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2359. en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2360. en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2361. en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2362. en:heterozygotes may exhibit syndromic manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygotes may exhibit syndromic manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2363. en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2364. en:heterozygous carriers have an increased risk of metabolic dysfunction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous carriers have an increased risk of metabolic dysfunction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2365. en:heterozygous carriers have decreased blood pressure compared to the general population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous carriers have decreased blood pressure compared to the general population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2366. en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2367. en:heterozygous female carriers may manifest symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous female carriers may manifest symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2368. en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2369. en:heterozygous females may have gout and/or sensorineural deafness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous females may have gout and/or sensorineural deafness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2370. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2371. en:heterozygous mutation carriers may have late-onset cardiac arrhythmias --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2372. en:heterozygous mutation carriers may show mild symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous mutation carriers may show mild symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2373. en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2374. en:heterozygous mutation present in 5-7% of the japanese population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous mutation present in 5-7% of the japanese population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2375. en:heterozygous mutations reported, see 606609.0006 and 606609.0007 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2376. en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2377. en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2378. en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2379. en:hhs is a more severe variant, often resulting in death in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hhs is a more severe variant, often resulting in death in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2380. en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2381. en:high disease prevalence among french-canadians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high disease prevalence among french-canadians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2382. en:high early mortality rate if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high early mortality rate if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2383. en:high frequency among french-canadians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency among french-canadians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2384. en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2385. en:high frequency in equatorial africa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in equatorial africa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2386. en:high frequency in finnish population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in finnish population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2387. en:high frequency in hutterite population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in hutterite population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2388. en:high frequency in japan (2 in 20,000, 0.1%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in japan (2 in 20,000, 0.1%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2389. en:high frequency in northeastern brazil --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in northeastern brazil | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2390. en:high frequency in southern india (7% of all epilepsies) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in southern india (7% of all epilepsies) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2391. en:high frequency in the french-canadian population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in the french-canadian population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2392. en:high frequency in tibetan individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency in tibetan individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2393. en:high frequency of de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency of de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2394. en:high frequency seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high frequency seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2395. en:high incidence among ashkenazi jews --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high incidence among ashkenazi jews | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2396. en:high incidence among old order amish --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high incidence among old order amish | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2397. en:high incidence in iraqis and sephardic jewish individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high incidence in iraqis and sephardic jewish individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2398. en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2399. en:high incidence in sweden and finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high incidence in sweden and finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2400. en:high incidence of diabetes mellitus noted in opll patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high incidence of diabetes mellitus noted in opll patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2401. en:high incidence of e. coli sepsis in untreated neonates --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high incidence of e. coli sepsis in untreated neonates | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2402. en:high infant mortality due to malnutrition as well as complications of parenteral nutrition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2403. en:high intrafamilial and interfamilial variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high intrafamilial and interfamilial variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2404. en:high mortality in infancy and early childhood (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high mortality in infancy and early childhood (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2405. en:high occurrence of de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high occurrence of de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2406. en:high pain threshold --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high pain threshold | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2407. en:high prevalence among individuals of middle eastern or african descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high prevalence among individuals of middle eastern or african descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2408. en:high prevalence among individuals of portuguese descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high prevalence among individuals of portuguese descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2409. en:high prevalence in charlevoix-saguenay region of northeastern quebec --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high prevalence in charlevoix-saguenay region of northeastern quebec | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2410. en:high prevalence in holguin province of cuba --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high prevalence in holguin province of cuba | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2411. en:high prevalence in japan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high prevalence in japan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2412. en:high prevalence in the east asian population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high prevalence in the east asian population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2413. en:high risk of death in infancy due to cardiac failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:high risk of death in infancy due to cardiac failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2414. en:highest incidence in men of european descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highest incidence in men of european descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2415. en:highly variable age at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable age at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2416. en:highly variable age at onset (range 9 to 69 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable age at onset (range 9 to 69 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2417. en:highly variable age at onset (range childhood to late adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable age at onset (range childhood to late adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2418. en:highly variable clinical and immunologic phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable clinical and immunologic phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2419. en:highly variable degree of bone fragility, even among patients carrying the same mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable degree of bone fragility, even among patients carrying the same mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2420. en:highly variable dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2421. en:highly variable expressivity within families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable expressivity within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2422. en:highly variable intrafamilial expression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable intrafamilial expression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2423. en:highly variable intrafamilial severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable intrafamilial severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2424. en:highly variable pathologic phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable pathologic phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2425. en:highly variable phenotype and age of onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype and age of onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2426. en:highly variable phenotype and severity, even within families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype and severity, even within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2427. en:highly variable phenotype in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2428. en:highly variable phenotype with regard to pigmentation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype with regard to pigmentation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2429. en:highly variable phenotype, ranging from asymptomatic to death by age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2430. en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2431. en:highly variable severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2432. en:highly variable severity of muscle weakness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:highly variable severity of muscle weakness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2433. en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2434. en:hip replacement in early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hip replacement in early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2435. en:histologic features overlap with henoch-schonlein purpura (hspn) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:histologic features overlap with henoch-schonlein purpura (hspn) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2436. en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2437. en:homo sapiens do not have a functional l-gulonolactone oxidase gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2438. en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2439. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2440. en:homozygotes have earlier onset and a more severe disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:homozygotes have earlier onset and a more severe disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2441. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2442. en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2443. en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2444. en:homozygous patients have earlier-onset and more severe disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:homozygous patients have earlier-onset and more severe disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2445. 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:one patient reported (last curated november 2012)
    n1=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2446. en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2447. en:hyperkeratosis triggered by chronic mechanical irritation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hyperkeratosis triggered by chronic mechanical irritation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2448. en:hyperlipidemia may be partially responsive to fat-restricted diet --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hyperlipidemia may be partially responsive to fat-restricted diet | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2449. 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:one patient reported (last curated november 2012)
    n1=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2450. en:hyperpigmented patches increased in size and number with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hyperpigmented patches increased in size and number with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2451. en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2452. en:hypertension is presenting sign --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hypertension is presenting sign | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2453. en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2454. en:hypogonadism reported in a large swedish kindred --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hypogonadism reported in a large swedish kindred | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2455. en:hyponatremia usually associated with gastroenteritis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hyponatremia usually associated with gastroenteritis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2456. en:hypotonia may respond to treatment with pyridostigmine --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hypotonia may respond to treatment with pyridostigmine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2457. en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2458. en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2459. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2460. en:immunodeficiency is progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:immunodeficiency is progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2461. 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:one patient reported (last curated november 2012)
    n1=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2462. en:immunosuppressive therapy may be beneficial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:immunosuppressive therapy may be beneficial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2463. en:impaired healing --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:impaired healing | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2464. en:imprinting at 11p15.5 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:imprinting at 11p15.5 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2465. en:improvement of abnormal muscle biopsy and cox deficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:improvement of abnormal muscle biopsy and cox deficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2466. en:improvement of epimetaphyseal changes with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:improvement of epimetaphyseal changes with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2467. en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2468. en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2469. en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2470. en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2471. en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2472. en:in most cases capillary lesions are multifocal at birth and may increase in number with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2473. en:in some patients, qtc interval is prolonged only during exercise testing --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:in some patients, qtc interval is prolonged only during exercise testing | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2474. en:inborn error of the pyrimidine degradation pathway --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:inborn error of the pyrimidine degradation pathway | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2475. en:incidence - 1 in 25,000-100,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence - 1 in 25,000-100,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2476. en:incidence 1 in 20,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1 in 20,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2477. en:incidence 1 in 300,000 in japan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1 in 300,000 in japan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2478. en:incidence 1 in 50,000-100,000 in western europe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1 in 50,000-100,000 in western europe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2479. en:incidence 1 in 6,000 to 1 in 8,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1 in 6,000 to 1 in 8,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2480. en:incidence 1/1,200-1/15,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1/1,200-1/15,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2481. en:incidence 1/20,000-1/64,000 male births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 1/20,000-1/64,000 male births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2482. en:incidence 2-5% of north american children --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 2-5% of north american children | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2483. en:incidence 5-50 per million (children) and 10-40 per million (adults) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 5-50 per million (children) and 10-40 per million (adults) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2484. en:incidence 7-15% in pacific island populations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence 7-15% in pacific island populations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2485. en:incidence approximately 2-3/10,000 newborns --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence approximately 2-3/10,000 newborns | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2486. en:incidence in finland is 1 in 76,000 births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence in finland is 1 in 76,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2487. en:incidence in japan is 1 in 57,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence in japan is 1 in 57,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2488. en:incidence in the finnish population of 0.2-1.3 cases per million per year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence in the finnish population of 0.2-1.3 cases per million per year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2489. en:incidence in united states of 1 in 55,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence in united states of 1 in 55,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2490. en:incidence is less than 1 in 70,000 births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence is less than 1 in 70,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2491. en:incidence of 0.51 per million in france --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 0.51 per million in france | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2492. en:incidence of 1 in 1,000,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 1,000,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2493. en:incidence of 1 in 10,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 10,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2494. en:incidence of 1 in 100 in some local nordic areas --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 100 in some local nordic areas | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2495. en:incidence of 1 in 100,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 100,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2496. en:incidence of 1 in 100,000 births in caucasians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 100,000 births in caucasians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2497. en:incidence of 1 in 150,000 live births in the general population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 150,000 live births in the general population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2498. en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2499. en:incidence of 1 in 20,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 20,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2500. en:incidence of 1 in 25,000 livebirths --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 25,000 livebirths | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2501. en:incidence of 1 in 25,000 to 1 in 50,000 newborns --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2502. en:incidence of 1 in 250,000 births --- r_associated #0: 20 --> 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
  2503. en:incidence of 1 in 276,000 in the netherlands --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 276,000 in the netherlands | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2504. en:incidence of 1 in 3,900 births among jewish persons --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 3,900 births among jewish persons | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2505. en:incidence of 1 in 300,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 300,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2506. en:incidence of 1 in 320,000 births among non-jewish persons --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 320,000 births among non-jewish persons | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2507. en:incidence of 1 in 40,000 infants worldwide --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 40,000 infants worldwide | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2508. en:incidence of 1 in 480 among old order amish --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 480 among old order amish | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2509. en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2510. en:incidence of 1 in 5,000-8,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 5,000-8,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2511. en:incidence of 1 in 500,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 500,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2512. en:incidence of 1 in 6,000 males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 6,000 males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2513. en:incidence of 1 per 10,000 births in japan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 per 10,000 births in japan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2514. en:incidence of 1% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1% in yarmouth county, nova scotia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2515. en:incidence of 1/100,000 in italy and finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1/100,000 in italy and finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2516. en:incidence of 1/50,000 births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1/50,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2517. en:incidence of 12.2 per 100,000 in finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 12.2 per 100,000 in finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2518. en:incidence of 4 per million per year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of 4 per million per year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2519. en:incidence of all forms of cjd is 0.5 to 1.5 per million per year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2520. en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2521. en:incidence of mh in anesthetized children is 1 in 15,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence of mh in anesthetized children is 1 in 15,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2522. en:incidence ranges from 1 in 238,095 to 1 in 300,000 births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2523. en:incidence ranges from 1 in 8,500 to 1 in 12,000 births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2524. en:incidence worldwide of 1 in 30,000 to 50,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence worldwide of 1 in 30,000 to 50,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2525. en:incidence, 1 in 650-1000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incidence, 1 in 650-1000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2526. en:incomplete age-dependent penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete age-dependent penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2527. en:incomplete penetance of some features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetance of some features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2528. en:incomplete penetrance (about 80%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance (about 80%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2529. en:incomplete penetrance (as low as 30% in some cases) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance (as low as 30% in some cases) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2530. en:incomplete penetrance (range 13% to 77% by 50 years of age) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance (range 13% to 77% by 50 years of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2531. en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2532. en:incomplete penetrance in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2533. en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2534. en:incomplete penetrance of the cardiac phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance of the cardiac phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2535. en:incomplete penetrance, some individuals have only emg changes without other clinical signs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2536. en:incomplete, age-associated penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete, age-associated penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2537. en:incomplete, but high, penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incomplete, but high, penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2538. en:incompletely penetrant phenotype in heterozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:incompletely penetrant phenotype in heterozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2539. en:increased abortuses of homozygous or compound heterozygous fetuses --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased abortuses of homozygous or compound heterozygous fetuses | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2540. en:increased bleeding after surgery --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased bleeding after surgery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2541. 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:one patient reported (last curated november 2012)
    n1=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2542. en:increased frequency among individuals of ashkenazi jewish descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency among individuals of ashkenazi jewish descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2543. en:increased frequency among individuals of east asian descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency among individuals of east asian descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2544. en:increased frequency among japanese and chinese --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency among japanese and chinese | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2545. en:increased frequency among jewish iranian individuals from isfahan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency among jewish iranian individuals from isfahan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2546. en:increased frequency in ashkenazi jewish population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in ashkenazi jewish population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2547. en:increased frequency in ashkenazi jewish population (1/100 are carriers) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2548. en:increased frequency in ashkenazi jewish population and in finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in ashkenazi jewish population and in finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2549. en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2550. en:increased frequency in eastern pennsylvania amish --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in eastern pennsylvania amish | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2551. en:increased frequency in finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2552. en:increased frequency in finland (incidence 1:60,000 finnish newborns) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2553. en:increased frequency in finland (prevalence of 1 in 20,000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in finland (prevalence of 1 in 20,000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2554. en:increased frequency in individuals of asian descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in individuals of asian descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2555. en:increased frequency in individuals originating from western scotland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in individuals originating from western scotland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2556. en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2557. en:increased frequency in persian jews (1:1,300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in persian jews (1:1,300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2558. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2559. en:increased frequency in the dariusleut hutterites (canada) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in the dariusleut hutterites (canada) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2560. en:increased frequency in the faroe islands (carrier 1 in 25) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in the faroe islands (carrier 1 in 25) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2561. en:increased frequency in the finnish population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in the finnish population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2562. 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:one patient reported (last curated november 2012)
    n1=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2563. en:increased frequency in the state of bahia, brazil --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in the state of bahia, brazil | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2564. en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2565. en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2566. en:increased male-to-female ratio (3-4 to 1) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased male-to-female ratio (3-4 to 1) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2567. en:increased morbidity/mortality in affected males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased morbidity/mortality in affected males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2568. en:increased penetrance of phenotype when there is maternal transmission of the mutant allele --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2569. en:increased prevalence among smokers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence among smokers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2570. en:increased prevalence among the finnish --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence among the finnish | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2571. en:increased prevalence among women --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence among women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2572. en:increased prevalence in individuals of jewish-iraqi origin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence in individuals of jewish-iraqi origin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2573. en:increased prevalence in individuals of turkish descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence in individuals of turkish descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2574. en:increased prevalence in northern finland (7.3/100,000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence in northern finland (7.3/100,000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2575. en:increased prevalence in persons of ashkenazi jewish descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence in persons of ashkenazi jewish descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2576. en:increased prevalence in the french-canadian population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased prevalence in the french-canadian population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2577. en:increased rate of miscarriage in affected individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased rate of miscarriage in affected individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2578. en:increased risk of bilateral breast cancer --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of bilateral breast cancer | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2579. en:increased risk of developing early-onset aggressive cancers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of developing early-onset aggressive cancers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2580. en:increased risk of developing multiple primary cancers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of developing multiple primary cancers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2581. en:increased risk of miscarriage --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of miscarriage | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2582. en:increased risk of post-splenectomy thrombotic complications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of post-splenectomy thrombotic complications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2583. en:increased risk of post-splenectomy thrombotic complications (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased risk of post-splenectomy thrombotic complications (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2584. en:increased sensitivity to heat --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased sensitivity to heat | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2585. en:increased spontaneous abortions in carrier mothers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased spontaneous abortions in carrier mothers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2586. en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2587. en:increased susceptibility to infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased susceptibility to infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2588. en:increased susceptibility to malignant hyperthermia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased susceptibility to malignant hyperthermia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2589. en:increased susceptibility to neisseria infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased susceptibility to neisseria infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2590. en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2591. en:increased tendency to chromosomal nondisjunction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increased tendency to chromosomal nondisjunction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2592. en:increasing hypertension with increasing age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:increasing hypertension with increasing age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2593. en:individuals develop ability to stand and walk --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:individuals develop ability to stand and walk | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2594. en:individuals do not develop erythrocytosis under hypoxic conditions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:individuals do not develop erythrocytosis under hypoxic conditions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2595. en:individuals may accumulate more pigment in hair and eyes with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:individuals may accumulate more pigment in hair and eyes with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2596. en:individuals with the pcs trait are phenotypically normal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:individuals with the pcs trait are phenotypically normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2597. en:infant death may occur secondary to sepsis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:infant death may occur secondary to sepsis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2598. 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:one patient reported (last curated november 2012)
    n1=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2599. en:infantile form usually leads to death by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:infantile form usually leads to death by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2600. en:infantile onset (in 1 patient) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:infantile onset (in 1 patient) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2601. en:infants are stillborn or die before age 1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:infants are stillborn or die before age 1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2602. en:infants may die from apnea or aspiration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:infants may die from apnea or aspiration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2603. en:infants occasionally mistaken as having down syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:infants occasionally mistaken as having down syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2604. en:infertility --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:infertility | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2605. en:inheritance may be x-linked dominant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:inheritance may be x-linked dominant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2606. en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2607. en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2608. en:initially normal for first 6-18 months which is then followed by withdrawal and regression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2609. en:initially normal rod responses may become significantly reduced at older age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:initially normal rod responses may become significantly reduced at older age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2610. en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2611. en:intellectual disability is variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intellectual disability is variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2612. en:intelligence is normal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intelligence is normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2613. en:interfamilial and intrafamilial variability in severity of symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:interfamilial and intrafamilial variability in severity of symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2614. en:intermediate levels of factor x in mildly symptomatic heterozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intermediate levels of factor x in mildly symptomatic heterozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2615. en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2616. en:intermittent pyrexia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intermittent pyrexia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2617. en:intolerant of heat --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intolerant of heat | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2618. en:intracellular accumulation of material may not always be apparent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intracellular accumulation of material may not always be apparent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2619. en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2620. en:intrafamilial variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2621. en:intrafamilial variability in degree of hypotrichosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variability in degree of hypotrichosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2622. en:intrafamilial variability in degree of nail involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variability in degree of nail involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2623. en:intrafamilial variability in nail changes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variability in nail changes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2624. en:intrafamilial variability in severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variability in severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2625. en:intrafamilial variability in severity of hypothyroidism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variability in severity of hypothyroidism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2626. en:intrafamilial variation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrafamilial variation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2627. en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2628. en:involuntary and nonvolitional phenomenon --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:involuntary and nonvolitional phenomenon | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2629. en:isolated cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:isolated cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2630. en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2631. en:jbts shows autosomal dominant inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:jbts shows autosomal dominant inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2632. en:joint dislocations become less frequent with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:joint dislocations become less frequent with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2633. en:joint replacement often necessary --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:joint replacement often necessary | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2634. en:juvenile absence epilepsy (jae, 607631) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile absence epilepsy (jae, 607631) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2635. en:juvenile and adult forms are isolated glycerol kinase deficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile and adult forms are isolated glycerol kinase deficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2636. en:juvenile myoclonic epilepsy (jme, 606904) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile myoclonic epilepsy (jme, 606904) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2637. en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2638. en:juvenile-onset (before 15 years of age) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:juvenile-onset (before 15 years of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2639. en:keratitis-ichthyosis-deafness syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:keratitis-ichthyosis-deafness syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2640. en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2641. en:kid syndrome and hid syndrome are identical at the molecular level --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:kid syndrome and hid syndrome are identical at the molecular level | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2642. en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2643. en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2644. en:l-dopa-induced dyskinesias --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:l-dopa-induced dyskinesias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2645. en:laboratory comment:txt:pt:report:nar --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:laboratory comment:txt:pt:report:nar | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2646. en:laboratory director name:pn:pt:provider:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:laboratory director name:pn:pt:provider:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2647. en:laboratory findings are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:laboratory findings are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2648. en:laryngeal edema can result in asphyxiation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:laryngeal edema can result in asphyxiation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2649. en:last name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:last name:pn:pt:^guardian or legally authorized representative:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2650. en:late infantile form has onset between 19 months and 4 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:late infantile form has onset between 19 months and 4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2651. en:late onset combined immunodeficiency with allelic variant 102700.0020 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:late onset combined immunodeficiency with allelic variant 102700.0020 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2652. en:late-adult onset (age 50 or later) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:late-adult onset (age 50 or later) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2653. en:late-adult onset (range 50 to 80 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:late-adult onset (range 50 to 80 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2654. en:late-adult onset (usually after age 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:late-adult onset (usually after age 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2655. en:later childhood onset has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later childhood onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2656. en:later onset associated with milder severity has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset associated with milder severity has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2657. en:later onset has been rarely reported (up to age 68 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset has been rarely reported (up to age 68 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2658. en:later onset has been reported (third or fourth decades) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset has been reported (third or fourth decades) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2659. en:later onset in adolescence has rarely been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset in adolescence has rarely been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2660. en:later onset in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2661. en:later onset is associated with slower progression and lesser severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset is associated with slower progression and lesser severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2662. en:later onset may occur (1 to 11 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset may occur (1 to 11 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2663. en:later onset of hearing loss in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset of hearing loss in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2664. en:later onset of ophthalmoparesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset of ophthalmoparesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2665. en:later onset with a milder phenotype may also occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:later onset with a milder phenotype may also occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2666. en:leakage of fluid ('gusher') if the stapes is disturbed --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:leakage of fluid ('gusher') if the stapes is disturbed | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2667. en:left side involvement associated with serious cardiac defect --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:left side involvement associated with serious cardiac defect | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2668. en:leigh syndrome, x-linked --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:leigh syndrome, x-linked | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2669. en:length of calorie fast:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:length of calorie fast:time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2670. en:length of time post dose:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:length of time post dose:time:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2671. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2672. en:lesions appear in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lesions appear in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2673. en:lesions are present at birth or become apparent in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lesions are present at birth or become apparent in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2674. en:lesions grow and spread with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lesions grow and spread with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2675. en:lesions increase in size and number with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lesions increase in size and number with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2676. en:lesions may become more prominent with sun exposure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lesions may become more prominent with sun exposure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2677. en:lesions occur mainly on the pinnae of the ears or on the face --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lesions occur mainly on the pinnae of the ears or on the face | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2678. en:less severe phenotype in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:less severe phenotype in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2679. en:less than 50% penetrance in some families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:less than 50% penetrance in some families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2680. en:lethal in 40% of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lethal in 40% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2681. en:lethal in first weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lethal in first weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2682. en:lethal in the neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lethal in the neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2683. en:lethal in utero or in the perinatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lethal in utero or in the perinatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2684. en:levodopa-responsive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:levodopa-responsive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2685. en:life-threatening in infancy due to sepsis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:life-threatening in infancy due to sepsis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2686. en:lifetime risk of breast cancer in male mutation carriers in 6% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lifetime risk of breast cancer in male mutation carriers in 6% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2687. en:lifetime risk of breast cancer in mutation carriers is 80 to 90% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2688. en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2689. en:likely allelic to sc phocomelia syndrome (269000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:likely allelic to sc phocomelia syndrome (269000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2690. 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:one patient reported (last curated november 2012)
    n1=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2691. en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2692. en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2693. en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2694. en:limited clinical information due to surgical removal of lens in affected individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limited clinical information due to surgical removal of lens in affected individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2695. en:limited clinical information provided --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limited clinical information provided | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2696. en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2697. en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2698. en:limited clinical information provided on patients with bbs7 mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:limited clinical information provided on patients with bbs7 mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2699. en:linked to 10q24 trisomy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:linked to 10q24 trisomy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2700. en:lipodystrophic appearance may be mild or not present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lipodystrophic appearance may be mild or not present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2701. en:liver enzymes decrease with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:liver enzymes decrease with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2702. en:liver failure episodes associated with fever --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:liver failure episodes associated with fever | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2703. en:liver failure episodes cease in later childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:liver failure episodes cease in later childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2704. en:liver functions return to normal after 3 to 4 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:liver functions return to normal after 3 to 4 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2705. en:liver involvement can range from mild to severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:liver involvement can range from mild to severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2706. en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2707. en:long duration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:long duration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2708. en:longer disease duration than creutzfeldt-jakob disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:longer disease duration than creutzfeldt-jakob disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2709. en:loss initially affects mid and high frequencies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:loss initially affects mid and high frequencies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2710. en:loss of ambulation within 10 years of onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:loss of ambulation within 10 years of onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2711. en:loss of independent ambulation (in 2 of 3 patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:loss of independent ambulation (in 2 of 3 patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2712. en:loss of independent ambulation due to muscle weakness in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:loss of independent ambulation due to muscle weakness in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2713. en:loss of independent ambulation in the second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:loss of independent ambulation in the second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2714. en:loss of independent walking by teenage years (in some) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:loss of independent walking by teenage years (in some) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2715. en:low physical performance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:low physical performance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2716. en:lower limb involvement precedes upper limb involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lower limb involvement precedes upper limb involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2717. en:lower limbs more severely affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lower limbs more severely affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2718. en:luton and torrance type differentiated based on histologic findings in cartilage --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:luton and torrance type differentiated based on histologic findings in cartilage | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2719. en:lymphedema occurs in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lymphedema occurs in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2720. en:lymphedema resolves by age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lymphedema resolves by age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2721. en:lymphedema that presents at puberty is called meige disease (153200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lymphedema that presents at puberty is called meige disease (153200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2722. en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2723. en:macular degeneration only occurs in some patients at very late age (over 70) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:macular degeneration only occurs in some patients at very late age (over 70) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2724. en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2725. en:major fetal plasma protein produced by yolk sac and liver --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:major fetal plasma protein produced by yolk sac and liver | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2726. en:majority are sporadic cases, affected sibs have been described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority are sporadic cases, affected sibs have been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2727. en:majority cases are sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority cases are sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2728. en:majority of affected individuals are female (85%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of affected individuals are female (85%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2729. en:majority of cases are due to de novo mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases are due to de novo mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2730. en:majority of cases are secondary to de novo mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases are secondary to de novo mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2731. en:majority of cases are sporadic, some autosomal dominant families have been described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases are sporadic, some autosomal dominant families have been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2732. en:majority of cases from middle eastern countries --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases from middle eastern countries | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2733. en:majority of cases have bilateral involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases have bilateral involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2734. en:majority of cases in japan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases in japan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2735. en:majority of cases in manitoba indians, northeastern manitoba, canada --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases in manitoba indians, northeastern manitoba, canada | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2736. en:majority of cases in the afrikaner population of south africa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases in the afrikaner population of south africa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2737. en:majority of cases occur in brazilian population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of cases occur in brazilian population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2738. en:majority of eec cases appear to be secondary to tp63 (603273) mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2739. en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2740. en:majority of individuals are healthy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of individuals are healthy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2741. en:majority of patients are pyridoxine-responsive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of patients are pyridoxine-responsive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2742. en:majority of patients develop symptoms within the first few weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of patients develop symptoms within the first few weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2743. en:majority of patients from italy and southwestern united states --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of patients from italy and southwestern united states | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2744. en:majority of por deficiency patients have an abs-like phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of por deficiency patients have an abs-like phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2745. en:majority of wilms tumors are sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of wilms tumors are sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2746. en:majority of wws patients die within the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:majority of wws patients die within the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2747. en:male infertility --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male infertility | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2748. en:male patients have more severe disease than female patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male patients have more severe disease than female patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2749. en:male predominance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male predominance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2750. en:male to female ratio 21:8 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male to female ratio 21:8 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2751. en:male to female ratio 7:1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male to female ratio 7:1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2752. en:male-limited trait --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male-limited trait | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2753. en:male-to-female ratio 3 to 1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male-to-female ratio 3 to 1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2754. en:male-to-female ratio of 3:2 in childhood cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:male-to-female ratio of 3:2 in childhood cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2755. en:males are more commonly affected than females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:males are more commonly affected than females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2756. en:males are more severely affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:males are more severely affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2757. en:males are more severely affected than females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:males are more severely affected than females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2758. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2759. en:males carry mutations in the somatic mosaic state --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:males carry mutations in the somatic mosaic state | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2760. en:males died in neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:males died in neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2761. en:males more frequently have severe lesions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:males more frequently have severe lesions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2762. en:males mores severely affected than females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:males mores severely affected than females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2763. en:malnutrition can be severe, requiring total parenteral nutrition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:malnutrition can be severe, requiring total parenteral nutrition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2764. en:manifestations of cushing syndrome may be mild --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:manifestations of cushing syndrome may be mild | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2765. en:manifestations present in second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:manifestations present in second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2766. en:many become wheelchair bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many become wheelchair bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2767. en:many cases are sporadic, but somatic and germline mosaicism has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many cases are sporadic, but somatic and germline mosaicism has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2768. en:many cases due to de novo mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many cases due to de novo mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2769. en:many cases due to de novo mutation or chromosome aberration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many cases due to de novo mutation or chromosome aberration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2770. en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2771. en:many cases result from de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many cases result from de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2772. en:many features are present only in an untreated patient --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many features are present only in an untreated patient | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2773. en:many patients are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many patients are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2774. en:many patients become wheelchair-bound by second or third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many patients become wheelchair-bound by second or third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2775. en:many patients become wheelchair-bound later in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many patients become wheelchair-bound later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2776. en:many patients die by 1-3 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many patients die by 1-3 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2777. en:many patients recover normally --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many patients recover normally | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2778. en:many patients require cardiac pacemakers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:many patients require cardiac pacemakers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2779. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2780. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2781. en:marked clinical heterogeneity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marked clinical heterogeneity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2782. en:marked favorable response to l-dopa treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marked favorable response to l-dopa treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2783. en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2784. en:marked phenotypic variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marked phenotypic variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2785. en:marked phenotypic variability, even within an individual --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marked phenotypic variability, even within an individual | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2786. en:marked variability in severity of the skin lesions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marked variability in severity of the skin lesions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2787. en:marked variability in the deletion size --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marked variability in the deletion size | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2788. en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2789. en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2790. en:massive aortic aneurysm can cause airway compression in affected infants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:massive aortic aneurysm can cause airway compression in affected infants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2791. en:maternal breast milk is protective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:maternal breast milk is protective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2792. 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:one patient reported (last curated november 2012)
    n1=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2793. en:maternal oligohydramnios --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:maternal oligohydramnios | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2794. en:maternal uniparental disomy (upd)7 reported in some cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:maternal uniparental disomy (upd)7 reported in some cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2795. en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2796. en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2797. en:may be benign condition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be benign condition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2798. en:may be exacerbated by febrile illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be exacerbated by febrile illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2799. en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2800. en:may be fatal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be fatal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2801. en:may be fatal in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be fatal in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2802. en:may be induced by fever or hot bath --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be induced by fever or hot bath | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2803. en:may be lethal if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be lethal if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2804. en:may be lethal in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be lethal in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2805. en:may be lethal in infancy if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be lethal in infancy if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2806. en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2807. en:may be present in asymptomatic adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be present in asymptomatic adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2808. en:may be same disorder as autosomal recessive optic atrophy 3 (258501) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2809. en:may be same entity as elejalde syndrome (256710) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be same entity as elejalde syndrome (256710) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2810. 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:one patient reported (last curated november 2012)
    n1=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2811. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2812. en:may be seen with other forms of cancer in a family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be seen with other forms of cancer in a family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2813. en:may be triggered by increased practice --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be triggered by increased practice | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2814. en:may be x-linked --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may be x-linked | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2815. en:may coexist with autoimmune vitiligo or thyroiditis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may coexist with autoimmune vitiligo or thyroiditis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2816. en:may have less severe phenotype than rsts patients with crebbp mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may have less severe phenotype than rsts patients with crebbp mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2817. en:may manifest as 'ataxic' phenotype without parkinsonian features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may manifest as 'ataxic' phenotype without parkinsonian features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2818. en:may occur cormorbidly with poland syndrome (173800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may occur cormorbidly with poland syndrome (173800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2819. en:may or may not be responsive to pyridoxine (vitamin b6) treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2820. en:may present in infancy with episodes of severe metabolic decompensation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may present in infancy with episodes of severe metabolic decompensation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2821. en:may progress to upper limbs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may progress to upper limbs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2822. en:may regress in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may regress in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2823. en:may respond to cholinesterase inhibitors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may respond to cholinesterase inhibitors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2824. en:may respond to cholinesterase inhibitors of amifampridine --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may respond to cholinesterase inhibitors of amifampridine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2825. en:may result in death in neonatal period or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may result in death in neonatal period or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2826. en:may result in early death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may result in early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2827. en:may result in early death from severe diarrhea --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may result in early death from severe diarrhea | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2828. en:may result in sudden death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:may result in sudden death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2829. en:mean age at diagnosis 16 years (range 6 to 22) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at diagnosis 16 years (range 6 to 22) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2830. en:mean age at diagnosis is 38 years(range 11-63 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at diagnosis is 38 years(range 11-63 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2831. en:mean age at onset 11.4 years (range 4 to 35) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 11.4 years (range 4 to 35) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2832. en:mean age at onset 12.5 years (range 2 to 15 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 12.5 years (range 2 to 15 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2833. en:mean age at onset 16.5 years (range 9 to 35 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 16.5 years (range 9 to 35 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2834. en:mean age at onset 23.9 years (range 10 to 55 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 23.9 years (range 10 to 55 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2835. en:mean age at onset 27 years (range 9 to 42) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 27 years (range 9 to 42) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2836. en:mean age at onset 30.7 years (range 6 to 60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 30.7 years (range 6 to 60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2837. en:mean age at onset 41 years (range 18 to 61) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 41 years (range 18 to 61) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2838. en:mean age at onset 45 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 45 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2839. en:mean age at onset 48 years (range 38 to 64) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 48 years (range 38 to 64) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2840. en:mean age at onset 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2841. en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2842. en:mean age at onset for variant cjd is 29 years (before age 45 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset for variant cjd is 29 years (before age 45 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2843. en:mean age at onset is 10.4 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset is 10.4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2844. en:mean age at onset is 13 years (range 6 to 43) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset is 13 years (range 6 to 43) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2845. en:mean age at onset of bone disease is 40 years (range 23-65) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of bone disease is 40 years (range 23-65) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2846. en:mean age at onset of muscle disease is 42 years (range 24-61) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at onset of muscle disease is 42 years (range 24-61) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2847. en:mean age at resolution of symptoms 10 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age at resolution of symptoms 10 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2848. en:mean age of death is 34 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of death is 34 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2849. en:mean age of diagnosis is 40 years (range 11 to 79 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of diagnosis is 40 years (range 11 to 79 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2850. en:mean age of diagnosis of renal cell carcinoma is 46 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of diagnosis of renal cell carcinoma is 46 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2851. en:mean age of diagnosis of uterine leiomyomas is 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of diagnosis of uterine leiomyomas is 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2852. en:mean age of onset 14-24 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 14-24 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2853. en:mean age of onset 18 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 18 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2854. en:mean age of onset 21 years (range 14-35 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 21 years (range 14-35 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2855. en:mean age of onset 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2856. en:mean age of onset 30 years (range first to seventh decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 30 years (range first to seventh decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2857. en:mean age of onset 34 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 34 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2858. en:mean age of onset 50.2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 50.2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2859. en:mean age of onset 56 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean age of onset 56 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2860. en:mean duration of symptoms 4.2 plus or minus 2.4 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mean duration of symptoms 4.2 plus or minus 2.4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2861. en:mechanical ventilation may be required --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mechanical ventilation may be required | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2862. en:mecp2 mutations are those found in females with rett syndrome (312750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mecp2 mutations are those found in females with rett syndrome (312750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2863. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2864. en:median age at diagnosis 7 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median age at diagnosis 7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2865. en:median age at onset is 21 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median age at onset is 21 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2866. en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2867. en:median age of diagnosis - 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median age of diagnosis - 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2868. en:median age of onset of leukoplakia - 7 years (range 1-26 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2869. en:median age of onset of pancytopenia - 10 years (range 1-32 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2870. en:median life expectancy, 13.4 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median life expectancy, 13.4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2871. en:median onset of proteinuria is 18 years (range 10 to 21) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:median onset of proteinuria is 18 years (range 10 to 21) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2872. 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:one patient reported (last curated november 2012)
    n1=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2873. en:meiotic origin >95% maternal, mostly meiosis i --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:meiotic origin >95% maternal, mostly meiosis i | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2874. en:melnick-needles syndrome (mns, 309350) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2875. en:mental retardation likely secondary to neonatal hypoxia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mental retardation likely secondary to neonatal hypoxia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2876. en:metabolic decompensation, episodic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:metabolic decompensation, episodic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2877. en:metabolic rate^resting:engrat:pt:^patient:qn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:metabolic rate^resting:engrat:pt:^patient:qn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2878. en:microdeletion is approximately 1.5mb in length --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:microdeletion is approximately 1.5mb in length | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2879. en:middle age onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:middle age onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2880. 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:one patient reported (last curated november 2012)
    n1=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2881. en:mild cases show clinical, biochemical, and mri improvement after the second year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2882. en:mild disease course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild disease course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2883. en:mild disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2884. en:mild expression in heterozygous carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild expression in heterozygous carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2885. en:mild facial dysmorphism is associated with duplication of the flna gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild facial dysmorphism is associated with duplication of the flna gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2886. en:mild features such as digital clubbing may be apparent in older heterozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild features such as digital clubbing may be apparent in older heterozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2887. en:mild involvement of face and arms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild involvement of face and arms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2888. en:mild manifestations in carrier females (cleft lip, cleft tongue) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild manifestations in carrier females (cleft lip, cleft tongue) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2889. en:mild phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2890. en:mild phenotype onset - 11-18 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild phenotype onset - 11-18 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2891. en:mild symptoms may occur in teenage years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild symptoms may occur in teenage years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2892. en:mild to severe forms of disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mild to severe forms of disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2893. en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2894. en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2895. en:milder expression in female heterozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:milder expression in female heterozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2896. en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2897. 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:one patient reported (last curated november 2012)
    n1=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2898. en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2899. en:mildly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mildly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2900. en:minimal response to surfactant treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:minimal response to surfactant treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2901. en:minimum duplication includes bhlha9 (615416) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:minimum duplication includes bhlha9 (615416) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2902. en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2903. en:miscellaneous --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:miscellaneous | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2904. en:mliii is a heterogeneous disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mliii is a heterogeneous disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2905. en:mode of inheritance is uncertain --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mode of inheritance is uncertain | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2906. en:mode of inheritance is unclear --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mode of inheritance is unclear | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2907. en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2908. en:moderate age-related improvement of pancreatic function --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:moderate age-related improvement of pancreatic function | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2909. en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2910. en:more common in ashkenazi jews --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in ashkenazi jews | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2911. en:more common in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2912. en:more common in females (male:female ratio 4:1) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in females (male:female ratio 4:1) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2913. en:more common in males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2914. en:more common in men (9:1 male:female ratio) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in men (9:1 male:female ratio) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2915. en:more common in men than women --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in men than women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2916. en:more common in women --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2917. en:more common in women (90%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more common in women (90%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2918. en:more commonly observed in women --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more commonly observed in women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2919. en:more frequent in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more frequent in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2920. en:more frequent in individuals of asian descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more frequent in individuals of asian descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2921. en:more frequent in males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more frequent in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2922. en:more prevalent in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more prevalent in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2923. en:more severe in males than in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more severe in males than in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2924. en:more than half of patients develop retinal detachments and/or retinoschisis later in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2925. en:moroccan jewish and ashkenazi jewish families have been described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:moroccan jewish and ashkenazi jewish families have been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2926. en:mortality approximately 20% in first 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mortality approximately 20% in first 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2927. en:mortality, premature --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mortality, premature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2928. en:mosaic distribution of lesions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mosaic distribution of lesions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2929. en:most (80 to 90%) of cases result from deletions of the sts gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most (80 to 90%) of cases result from deletions of the sts gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2930. en:most affected infants die in the first month of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most affected infants die in the first month of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2931. en:most affected infants die shortly after birth from respiratory failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most affected infants die shortly after birth from respiratory failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2932. en:most affected males die of respiratory failure within the first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most affected males die of respiratory failure within the first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2933. en:most affected patients die in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most affected patients die in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2934. en:most become wheelchair-bound late in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most become wheelchair-bound late in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2935. en:most carrier females have mild mental retardation and subtle facial changes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most carrier females have mild mental retardation and subtle facial changes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2936. en:most case are sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most case are sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2937. en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2938. en:most cases are autosomal dominant, recessive inheritance has rarely been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2939. en:most cases are caused by mutation in the phox2b gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases are caused by mutation in the phox2b gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2940. en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2941. en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2942. en:most cases are isolated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases are isolated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2943. en:most cases are responsive to steroids --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases are responsive to steroids | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2944. en:most cases do not have mutations in the mapt gene, but map to chromosome 17q --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2945. en:most cases due to de novo mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases due to de novo mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2946. en:most cases occur de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases occur de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2947. en:most cases result from a de novo mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases result from a de novo mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2948. en:most cases result from de novo mutation or deletion of rai1 (607642) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases result from de novo mutation or deletion of rai1 (607642) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2949. en:most cases result from de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases result from de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2950. en:most cases sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most cases sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2951. en:most children become wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most children become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2952. en:most common age of clinical onset ranges from 16 to 33 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common age of clinical onset ranges from 16 to 33 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2953. en:most common cancer in men aged 15-40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common cancer in men aged 15-40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2954. en:most common disorder of fatty acid oxidation (1/13,000 births) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common disorder of fatty acid oxidation (1/13,000 births) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2955. en:most common episodic ataxia syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common episodic ataxia syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2956. en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2957. en:most common form of bowel obstruction in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common form of bowel obstruction in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2958. en:most common form of childhood idiopathic epilepsy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common form of childhood idiopathic epilepsy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2959. en:most common form of congenital methemoglobinemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common form of congenital methemoglobinemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2960. en:most common form of inherited, congenital hydrocephalus --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common form of inherited, congenital hydrocephalus | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2961. en:most common form of porphyria --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common form of porphyria | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2962. 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:one patient reported (last curated november 2012)
    n1=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2963. en:most common inherited ataxia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common inherited ataxia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2964. en:most common inherited bleeding disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common inherited bleeding disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2965. en:most common inherited giant platelet disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common inherited giant platelet disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2966. en:most common muscle disease of older persons --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common muscle disease of older persons | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2967. en:most common mutation is leu276ile (606596.0004) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common mutation is leu276ile (606596.0004) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2968. en:most common subtype of frontotemporal dementia (600274) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common subtype of frontotemporal dementia (600274) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2969. en:most common terminal deletion syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most common terminal deletion syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2970. en:most frequently affected joints - hands (98%) and feet (88%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most frequently affected joints - hands (98%) and feet (88%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2971. en:most have onset in first or second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most have onset in first or second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2972. en:most have resolution of symptoms between 6 and 12 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most have resolution of symptoms between 6 and 12 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2973. en:most individuals are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most individuals are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2974. en:most individuals are wheelchair-bound or bedridden by adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most individuals are wheelchair-bound or bedridden by adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2975. en:most mutations occur de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most mutations occur de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2976. en:most patients appear unaffected in the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients appear unaffected in the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2977. en:most patients are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2978. en:most patients are asymptomatic and are detected by newborn screening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are asymptomatic and are detected by newborn screening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2979. en:most patients are clinically asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are clinically asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2980. en:most patients are clinically asymptomatic and show normal development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are clinically asymptomatic and show normal development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2981. en:most patients are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2982. en:most patients are from finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are from finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2983. en:most patients are severely affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are severely affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2984. en:most patients are stillborn or die in immediate neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients are stillborn or die in immediate neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2985. en:most patients become seizure-free by age 3 or 4 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become seizure-free by age 3 or 4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2986. en:most patients become wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2987. en:most patients become wheelchair-bound after 20 to 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become wheelchair-bound after 20 to 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2988. en:most patients become wheelchair-bound in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become wheelchair-bound in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2989. en:most patients become wheelchair-bound in adolescence or as young adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become wheelchair-bound in adolescence or as young adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2990. en:most patients become wheelchair-bound in later childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become wheelchair-bound in later childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2991. en:most patients become wheelchair-bound in the second to fourth decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients become wheelchair-bound in the second to fourth decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2992. en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2993. en:most patients die from heart failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die from heart failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2994. en:most patients die in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2995. en:most patients die in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2996. en:most patients die in first years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die in first years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2997. en:most patients die in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2998. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  2999. en:most patients die in the first days of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die in the first days of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3000. en:most patients die in the first months or years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die in the first months or years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3001. en:most patients die in the neonatal period due to respiratory insufficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die in the neonatal period due to respiratory insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3002. en:most patients die of hepatic failure by 9 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die of hepatic failure by 9 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3003. en:most patients die of renal failure in early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die of renal failure in early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3004. en:most patients die within the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients die within the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3005. en:most patients do not learn to sit or walk --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients do not learn to sit or walk | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3006. en:most patients have a family history of fragile x syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have a family history of fragile x syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3007. en:most patients have adult onset of symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have adult onset of symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3008. en:most patients have contiguous gene deletion syndrome involving xp22 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have contiguous gene deletion syndrome involving xp22 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3009. en:most patients have de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3010. 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:one patient reported (last curated november 2012)
    n1=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3011. en:most patients have no bleeding abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have no bleeding abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3012. en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3013. en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3014. en:most patients have severe streptococcus pneumoniae infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients have severe streptococcus pneumoniae infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3015. en:most patients lose ambulation 2 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients lose ambulation 2 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3016. en:most patients need assistance walking or are wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients need assistance walking or are wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3017. en:most patients need hip replacement by their mid-thirties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients need hip replacement by their mid-thirties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3018. en:most patients present in infancy with anemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients present in infancy with anemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3019. en:most patients remain ambulatory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients remain ambulatory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3020. en:most patients remain ambulatory in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients remain ambulatory in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3021. en:most patients require liver transplant in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients require liver transplant in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3022. en:most patients require liver transplantation within the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients require liver transplantation within the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3023. en:most patients require renal transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients require renal transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3024. en:most patients retain ambulation with aids --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients retain ambulation with aids | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3025. en:most patients show early childhood onset after a period of normal development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most patients show early childhood onset after a period of normal development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3026. en:most pregnancies with affected fetuses resulted in elective termination --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most pregnancies with affected fetuses resulted in elective termination | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3027. en:most remit by 2 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most remit by 2 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3028. en:most remit by 6 weeks (1-6 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most remit by 6 weeks (1-6 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3029. en:most reported cases come from the island of mauritius or nearby islands --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most reported cases come from the island of mauritius or nearby islands | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3030. en:most retain independent ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most retain independent ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3031. en:most severe form of gaucher disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most severe form of gaucher disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3032. en:most severe type of von willebrand disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most severe type of von willebrand disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3033. en:most types show autosomal dominant inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:most types show autosomal dominant inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3034. en:mother had rubella infection during pregnancy with daughter --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mother had rubella infection during pregnancy with daughter | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3035. en:mother who carries the mutation is clinically unaffected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mother who carries the mutation is clinically unaffected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3036. en:motor delay --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor delay | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3037. en:motor fluctuations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor fluctuations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3038. en:motor impairment more significant than sensory impairment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor impairment more significant than sensory impairment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3039. en:motor neuropathy more prominent than sensory neuropathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor neuropathy more prominent than sensory neuropathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3040. en:motor skills less affected than cognitive skills --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor skills less affected than cognitive skills | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3041. en:motor symptoms are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor symptoms are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3042. en:motor symptoms develop later (about 5 years into illness) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor symptoms develop later (about 5 years into illness) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3043. en:motor symptoms show mild clinical improvement with levodopa treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:motor symptoms show mild clinical improvement with levodopa treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3044. en:mousy odor --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mousy odor | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3045. en:movements worsened by anxiety --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:movements worsened by anxiety | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3046. en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3047. en:mucocutaneous immunodeficiency syndrome may be prominent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mucocutaneous immunodeficiency syndrome may be prominent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3048. en:mulibrey is an acronym (muscle, liver, brain, and eyes) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3049. en:multiorgan failure may result from hs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiorgan failure may result from hs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3050. en:multiple congenital anomalies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiple congenital anomalies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3051. en:multiple gene loci involved in causation of schizophrenia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiple gene loci involved in causation of schizophrenia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3052. en:multiple lesions in familial cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiple lesions in familial cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3053. en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3054. en:multiple prenatal fractures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiple prenatal fractures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3055. en:multiple seizures daily at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiple seizures daily at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3056. en:multiple spontaneous abortions in obligate carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multiple spontaneous abortions in obligate carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3057. en:multisystem decompensation in response to viral infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:multisystem decompensation in response to viral infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3058. en:murcs association --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:murcs association | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3059. en:muscle contractions in infancy occur in response to tactile stimulation or crying --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:muscle contractions in infancy occur in response to tactile stimulation or crying | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3060. en:muscle involvement shows onset at birth or in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:muscle involvement shows onset at birth or in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3061. en:muscle symptoms precede cardiac symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:muscle symptoms precede cardiac symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3062. en:muscle weakness increases with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:muscle weakness increases with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3063. en:muscle weakness occurs only in the presence of hyperthyroidism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:muscle weakness occurs only in the presence of hyperthyroidism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3064. en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3065. en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3066. en:mutant alleles have 47 to 63 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutant alleles have 47 to 63 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3067. en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3068. en:mutation carriers may show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3069. en:mutation found in 1 puerto rican family (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation found in 1 puerto rican family (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3070. en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3071. en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3072. en:mutation in npr2 results in gain-of-function --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation in npr2 results in gain-of-function | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3073. en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3074. en:mutation in rp9 gene in family (607331.0001) likely not pathogenic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3075. en:mutation in the hcrt gene has been identified in 1 patient --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutation in the hcrt gene has been identified in 1 patient | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3076. 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:one patient reported (last curated november 2012)
    n1=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3077. en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3078. en:mutations are frequently maternally inherited --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutations are frequently maternally inherited | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3079. en:mutations have been identified in spanish families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutations have been identified in spanish families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3080. 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:one patient reported (last curated november 2012)
    n1=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3081. en:mutations occur de novo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutations occur de novo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3082. en:mutations result in inactivation of nkx3-2 (602183) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutations result in inactivation of nkx3-2 (602183) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3083. en:mutations show partial penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:mutations show partial penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3084. en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3085. en:myoclonic seizures occur on awakening or within 2 hours of awakening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:myoclonic seizures occur on awakening or within 2 hours of awakening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3086. en:myoclonus is presenting symptom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:myoclonus is presenting symptom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3087. en:myoclonus occurs at rest and with action --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:myoclonus occurs at rest and with action | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3088. en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3089. en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3090. en:n-myc oncogene (164840) amplification is associated with poor prognosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:n-myc oncogene (164840) amplification is associated with poor prognosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3091. en:nail changes may be intermittent in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nail changes may be intermittent in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3092. en:nails appear normal at birth, with dystrophic changes developing within the first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3093. en:nails may be intermittently involved --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nails may be intermittently involved | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3094. en:nails, palms, and soles are spared in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nails, palms, and soles are spared in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3095. en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3096. en:narcolepsy and deafness are the first symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:narcolepsy and deafness are the first symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3097. en:natural aversion to carbohydrates --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:natural aversion to carbohydrates | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3098. en:natural aversion to carbohydrates and favoring of protein --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:natural aversion to carbohydrates and favoring of protein | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3099. en:near-normoglycemic remission for period of months to years without insulin treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:near-normoglycemic remission for period of months to years without insulin treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3100. en:nearly 100% penetrance by 60 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nearly 100% penetrance by 60 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3101. en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3102. en:neonatal and late-infantile onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal and late-infantile onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3103. en:neonatal death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3104. en:neonatal death secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal death secondary to pulmonary insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3105. en:neonatal lethal due to respiratory insufficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal lethal due to respiratory insufficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3106. en:neonatal onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3107. en:neonatal onset of nephrotic syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal onset of nephrotic syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3108. en:neonatal or infant death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal or infant death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3109. en:neonatal sepsis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal sepsis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3110. en:neonatal severe hyperparathyroidism in homozygotes (239200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal severe hyperparathyroidism in homozygotes (239200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3111. en:neonatal/infantile death in most patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neonatal/infantile death in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3112. en:neuroendocrine recovery occurs in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neuroendocrine recovery occurs in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3113. en:neurologic deterioration is severe after age 2 to 2.5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic deterioration is severe after age 2 to 2.5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3114. en:neurologic dysfunction is infrequent and associated with delayed diagnosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3115. en:neurologic features are variable and not progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic features are variable and not progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3116. en:neurologic features have been diagnosed in ~30% of cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic features have been diagnosed in ~30% of cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3117. en:neurologic features occur in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic features occur in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3118. en:neurologic features occur later in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic features occur later in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3119. en:neurologic findings closely resemble those of huntington disease (hd, 143100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3120. en:neurologic involvement may occur in the absence of visceral involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic involvement may occur in the absence of visceral involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3121. en:neurologic signs are present in the neonatal period only --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic signs are present in the neonatal period only | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3122. en:neurologic signs last hours to days --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic signs last hours to days | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3123. en:neurologic signs may not be present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic signs may not be present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3124. en:neurologic signs onset during adolescence or young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic signs onset during adolescence or young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3125. en:neurologic symptoms are not always present or may appear late --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic symptoms are not always present or may appear late | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3126. en:neurologic symptoms are progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic symptoms are progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3127. en:neurologic symptoms may develop decades later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic symptoms may develop decades later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3128. en:neurologic symptoms may occur after trauma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurologic symptoms may occur after trauma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3129. en:neuromuscular forms can present as perinate, infant, child, or adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neuromuscular forms can present as perinate, infant, child, or adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3130. en:neuromuscular, cardiovascular, and infectious symptoms improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3131. en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3132. en:neuropathy becomes apparent in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neuropathy becomes apparent in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3133. en:neuropsychiatric manifestations are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neuropsychiatric manifestations are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3134. en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3135. en:new skin lesions stop appearing before adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:new skin lesions stop appearing before adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3136. en:newborn period is critical for survival --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:newborn period is critical for survival | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3137. en:night blindness from early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:night blindness from early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3138. en:nine patients have been reported in detail (as of 14 june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nine patients have been reported in detail (as of 14 june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3139. en:ninety percent of cases are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ninety percent of cases are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3140. en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3141. en:no abdominal symptoms or neurologic symptoms in harderoporphyria --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3142. en:no abnormalities of hair, teeth, or bones --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no abnormalities of hair, teeth, or bones | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3143. en:no abnormalities of skin, hair, teeth, or bones --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no abnormalities of skin, hair, teeth, or bones | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3144. en:no cardiac or immune defects in patients from the 2 reported families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no cardiac or immune defects in patients from the 2 reported families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3145. en:no chronic or permanent liver damage --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no chronic or permanent liver damage | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3146. en:no clinical description given for 1 reported patient (last curated december 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no clinical description given for 1 reported patient (last curated december 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3147. en:no clinical details provided by the authors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no clinical details provided by the authors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3148. en:no clinical manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no clinical manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3149. en:no clinical manifestations were noted (incidental laboratory finding) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no clinical manifestations were noted (incidental laboratory finding) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3150. en:no congenital form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no congenital form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3151. en:no consistent disease phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no consistent disease phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3152. en:no dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3153. en:no family history of --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no family history of | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3154. en:no family history, de novo mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no family history, de novo mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3155. en:no features consistent with cystic fibrosis found in these patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no features consistent with cystic fibrosis found in these patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3156. en:no history of familial hypercholesterolemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no history of familial hypercholesterolemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3157. en:no increased fragility of hair --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no increased fragility of hair | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3158. en:no laterality defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no laterality defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3159. en:no male-to-male transmission --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no male-to-male transmission | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3160. en:no mutations reported in la reunion island patients (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no mutations reported in la reunion island patients (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3161. en:no neurologic sequelae --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no neurologic sequelae | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3162. en:no opportunistic infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no opportunistic infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3163. en:no peripheral signs of hypothyroidism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no peripheral signs of hypothyroidism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3164. en:no phenotype in heterozygotes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no phenotype in heterozygotes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3165. en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3166. en:no phenotypic manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no phenotypic manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3167. en:no preceding skin inflammatory stage --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no preceding skin inflammatory stage | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3168. en:no predisposition to skin tumor development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no predisposition to skin tumor development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3169. en:no recurrence of nephrotic syndrome after transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no recurrence of nephrotic syndrome after transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3170. en:no response or worsening with acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no response or worsening with acetylcholinesterase inhibitors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3171. en:no response to phenobarbital --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no response to phenobarbital | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3172. en:no situs inversus --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no situs inversus | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3173. en:no skeletal abnormalities in odontohypophosphatasia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no skeletal abnormalities in odontohypophosphatasia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3174. en:no skin abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no skin abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3175. en:no systemic manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:no systemic manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3176. en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3177. en:non-progressive and more severe progressive forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:non-progressive and more severe progressive forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3178. en:non-progressive or very slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:non-progressive or very slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3179. en:non-tender --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:non-tender | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3180. en:nonpenetrance has been observed --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonpenetrance has been observed | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3181. en:nonprogressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonprogressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3182. en:nonprogressive hepatic form is less frequent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonprogressive hepatic form is less frequent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3183. en:nonprogressive in most patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonprogressive in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3184. en:nonprogressive or slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonprogressive or slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3185. en:nonprogressive or very slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonprogressive or very slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3186. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3187. en:nonreflex epilepsy may occur later in 16 to 38% of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonreflex epilepsy may occur later in 16 to 38% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3188. en:nonspecific subtle dysmorphic facial features may be present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonspecific subtle dysmorphic facial features may be present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3189. en:nonsyndromic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonsyndromic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3190. en:nonsyndromic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nonsyndromic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3191. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3192. en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3193. en:normal ability to tolerate heat --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal ability to tolerate heat | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3194. en:normal alleles contain 15 to 50 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal alleles contain 15 to 50 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3195. en:normal alleles contain 6 to 28 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal alleles contain 6 to 28 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3196. en:normal alleles contain up to 30 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal alleles contain up to 30 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3197. en:normal alleles contain up to 44 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal alleles contain up to 44 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3198. en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3199. en:normal alleles have 25 to 44 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal alleles have 25 to 44 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3200. en:normal alleles have 4 to 18 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal alleles have 4 to 18 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3201. en:normal at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3202. en:normal birth (finding) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal birth (finding) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3203. en:normal cag repeat length is 7 to 32 triplets --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal cag repeat length is 7 to 32 triplets | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3204. en:normal development before onset of seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal development before onset of seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3205. en:normal development between episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal development between episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3206. 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:one patient reported (last curated november 2012)
    n1=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3207. en:normal development until onset of seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal development until onset of seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3208. en:normal female secondary sexual characteristics --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal female secondary sexual characteristics | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3209. en:normal fertility --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal fertility | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3210. en:normal first month --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal first month | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3211. en:normal growth and development after 1 year of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal growth and development after 1 year of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3212. en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3213. en:normal in neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal in neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3214. en:normal intelligence in majority --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal intelligence in majority | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3215. en:normal neonatal blood phenylalanine has been reported in rare patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal neonatal blood phenylalanine has been reported in rare patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3216. en:normal neonatal course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal neonatal course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3217. en:normal range of expanded repeats 9-29, hd range 36-121 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal range of expanded repeats 9-29, hd range 36-121 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3218. en:normal sclerae and teeth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal sclerae and teeth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3219. en:normal sialophorin gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal sialophorin gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3220. en:normal sweat electrolytes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:normal sweat electrolytes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3221. en:not all nails are affected in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not all nails are affected in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3222. en:not all patients have a myopathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not all patients have a myopathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3223. en:not all patients have all features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not all patients have all features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3224. en:not all patients have dysmorphic facial features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not all patients have dysmorphic facial features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3225. en:not all patients have facial dysmorphism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not all patients have facial dysmorphism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3226. en:not all patients have renal involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not all patients have renal involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3227. en:not all patients have skeletal muscle symptoms or mental retardation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not all patients have skeletal muscle symptoms or mental retardation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3228. en:not responsive to biotin treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not responsive to biotin treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3229. en:not responsive to steroid treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:not responsive to steroid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3230. en:noted in early childhood in most patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:noted in early childhood in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3231. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3232. en:nphp shows autosomal recessive inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nphp shows autosomal recessive inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3233. en:number of episodes varies from 1 to many (up to 20) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:number of episodes varies from 1 to many (up to 20) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3234. en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3235. en:nyctalopia is a later feature of the disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nyctalopia is a later feature of the disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3236. en:nystagmus is often the presenting sign --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nystagmus is often the presenting sign | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3237. en:nystagmus may disappear by mid-childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:nystagmus may disappear by mid-childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3238. en:obligate female carriers may show mild signs of muscle weakness, especially of the face --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3239. en:obligatory heterozygotes are clinically unaffected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:obligatory heterozygotes are clinically unaffected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3240. en:observed in individuals of bulgarian roma bowlmaker ethnic group --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:observed in individuals of bulgarian roma bowlmaker ethnic group | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3241. en:occasional adult onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occasional adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3242. en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3243. en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3244. en:occasionally low-dose insulin required --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occasionally low-dose insulin required | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3245. en:occurs at age 20-50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs at age 20-50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3246. en:occurs during pregnancy, most often in the third trimester --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs during pregnancy, most often in the third trimester | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3247. en:occurs in 1 in 50,000 newborn males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in 1 in 50,000 newborn males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3248. en:occurs in 2-5 per 10,000 individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in 2-5 per 10,000 individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3249. en:occurs in about 1 in 10,000 births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in about 1 in 10,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3250. en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3251. en:occurs in full-term infants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in full-term infants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3252. en:occurs in full-term newborns --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in full-term newborns | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3253. en:occurs in the absence of trauma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in the absence of trauma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3254. en:occurs in women and is triggered by pregnancy or estrogen therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in women and is triggered by pregnancy or estrogen therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3255. en:occurs in ~3% pregnancies in western populations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs in ~3% pregnancies in western populations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3256. en:occurs more frequently in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs more frequently in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3257. en:occurs most often among black africans --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs most often among black africans | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3258. en:occurs most often between 5 and 15 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs most often between 5 and 15 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3259. en:occurs most often in developing countries in tropical regions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs most often in developing countries in tropical regions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3260. en:occurs much more commonly in women --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs much more commonly in women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3261. en:occurs on right side in 75% of cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:occurs on right side in 75% of cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3262. en:ocular abnormalities may be very mild --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ocular abnormalities may be very mild | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3263. 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:one patient reported (last curated november 2012)
    n1=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3264. en:oculomotor apraxia is not always present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:oculomotor apraxia is not always present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3265. en:odor of 'sweaty feet' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:odor of 'sweaty feet' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3266. en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3267. en:often associated with chiari type i malformation (cm1, 118420) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often associated with chiari type i malformation (cm1, 118420) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3268. en:often associated with klippel-feil anomaly (118100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often associated with klippel-feil anomaly (118100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3269. en:often associated with syringomyelia (186700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often associated with syringomyelia (186700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3270. en:often confused with tuberous sclerosis (191000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often confused with tuberous sclerosis (191000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3271. en:often diagnosed between ages 3-4 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often diagnosed between ages 3-4 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3272. en:often fatal due in infancy due to intractable diarrhea --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often fatal due in infancy due to intractable diarrhea | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3273. en:often fatal in utero --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often fatal in utero | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3274. en:often identified in newborn period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often identified in newborn period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3275. en:often lethal in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often lethal in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3276. en:often presents with cranial or cervical involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often presents with cranial or cervical involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3277. en:often reared as females until puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often reared as females until puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3278. en:often refractory to medical therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often refractory to medical therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3279. en:often results in death in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often results in death in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3280. en:often unilateral involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:often unilateral involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3281. en:old order amish, african american, and french patients have been described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:old order amish, african american, and french patients have been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3282. en:older individuals had moderate to severe hearing loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:older individuals had moderate to severe hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3283. en:older patients become wheelchair-dependent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:older patients become wheelchair-dependent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3284. en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3285. en:one 3-generation danish family reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 3-generation danish family reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3286. en:one 3-generation italian family has been described (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 3-generation italian family has been described (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3287. en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3288. en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3289. en:one 4-generation chinese family has been reported (as of 04/2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 4-generation chinese family has been reported (as of 04/2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3290. en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3291. en:one 5-generation chinese family reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 5-generation chinese family reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3292. en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3293. en:one 9-generation family and 1 isolated patient described (last curated march 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3294. en:one amish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one amish family has been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3295. en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3296. en:one boy and 5 unrelated girls have been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3297. en:one brazilian family with 12 affected individuals reported (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3298. en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3299. en:one canadian mennonite family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one canadian mennonite family has been reported (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3300. en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3301. en:one chinese family has been reported (as of august 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one chinese family has been reported (as of august 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3302. en:one chinese family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one chinese family has been reported (last curated october 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3303. en:one chinese family with 14 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3304. en:one chinese family with a confirmed mutation has been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3305. en:one compound heterozygous patient reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one compound heterozygous patient reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3306. en:one consanguineous algerian family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous algerian family has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3307. en:one consanguineous arab family has been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous arab family has been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3308. en:one consanguineous arab family has been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous arab family has been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3309. en:one consanguineous arab israeli family has been reported (last curated february, 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3310. en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3311. en:one consanguineous costa rican family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous costa rican family has been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3312. en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3313. en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3314. en:one consanguineous family has been reported (last curated december 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family has been reported (last curated december 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3315. en:one consanguineous family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family has been reported (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3316. en:one consanguineous family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family has been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3317. en:one consanguineous family has been reported (last curated may 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family has been reported (last curated may 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3318. en:one consanguineous family has been reported (last curated may 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family has been reported (last curated may 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3319. en:one consanguineous family has been reported (last curated november 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family has been reported (last curated november 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3320. en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3321. en:one consanguineous family of indian descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family of indian descent has been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3322. en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3323. en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3324. en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3325. en:one consanguineous italian family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous italian family has been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3326. en:one consanguineous moroccan family has been reported (as of january 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous moroccan family has been reported (as of january 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3327. en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3328. en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3329. en:one consanguineous pakistani family has been described (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been described (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3330. en:one consanguineous pakistani family has been reported (as of january 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been reported (as of january 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3331. en:one consanguineous pakistani family has been reported (last curated june 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been reported (last curated june 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3332. en:one consanguineous pakistani family has been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3333. en:one consanguineous pakistani family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3334. en:one consanguineous pakistani family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3335. en:one consanguineous pakistani family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3336. en:one consanguineous pakistani family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family has been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3337. en:one consanguineous pakistani family reported (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani family reported (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3338. en:one consanguineous pakistani has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3339. en:one consanguineous pakistani reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous pakistani reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3340. en:one consanguineous saudi arabian family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3341. en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3342. en:one consanguineous saudi family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous saudi family has been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3343. en:one consanguineous senegalese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous senegalese family has been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3344. en:one consanguineous tunisian family has been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous tunisian family has been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3345. en:one consanguineous turkish family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous turkish family has been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3346. en:one consanguineous turkish family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous turkish family has been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3347. en:one consanguineous turkish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous turkish family has been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3348. en:one consanguineous turkish family has been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous turkish family has been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3349. en:one consanguineous turkish family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous turkish family has been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3350. en:one consanguineous turkish family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one consanguineous turkish family has been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3351. en:one family (4 affected members) has been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family (4 affected members) has been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3352. en:one family and 1 unrelated patient have been reported (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family and 1 unrelated patient have been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3353. en:one family and 1 unrelated patient have been reported (last curated january 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family and 1 unrelated patient have been reported (last curated january 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3354. en:one family and 1 unrelated patient have been reported (last curated july 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family and 1 unrelated patient have been reported (last curated july 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3355. en:one family and an unrelated patient have been reported (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family and an unrelated patient have been reported (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3356. en:one family and an unrelated patient have been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family and an unrelated patient have been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3357. en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3358. en:one family described (last curated october 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family described (last curated october 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3359. en:one family from hong kong has been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family from hong kong has been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3360. en:one family from punjab, india has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family from punjab, india has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3361. en:one family from the old order amish has been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family from the old order amish has been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3362. en:one family had normal cognitive and neurologic development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family had normal cognitive and neurologic development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3363. en:one family has been described (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been described (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3364. en:one family has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3365. en:one family has been reported (as of 4/2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of 4/2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3366. en:one family has been reported (as of april 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of april 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3367. en:one family has been reported (as of august 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of august 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3368. en:one family has been reported (as of curation date may, 2013) onset in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of curation date may, 2013) onset in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3369. en:one family has been reported (as of january 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of january 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3370. en:one family has been reported (as of january 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of january 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3371. en:one family has been reported (as of july 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of july 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3372. en:one family has been reported (as of june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3373. en:one family has been reported (as of october 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of october 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3374. en:one family has been reported (as of september 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (as of september 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3375. en:one family has been reported (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3376. en:one family has been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3377. en:one family has been reported (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3378. en:one family has been reported (last curated december 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated december 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3379. en:one family has been reported (last curated december 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated december 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3380. en:one family has been reported (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3381. en:one family has been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3382. en:one family has been reported (last curated january 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated january 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3383. en:one family has been reported (last curated january 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated january 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3384. en:one family has been reported (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3385. en:one family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3386. en:one family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated june 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3387. en:one family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3388. en:one family has been reported (last curated march 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated march 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3389. en:one family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3390. en:one family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3391. en:one family has been reported (last curated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3392. en:one family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3393. en:one family has been reported (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3394. en:one family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3395. en:one family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated october 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3396. en:one family has been reported (last curated october 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated october 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3397. en:one family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3398. en:one family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3399. en:one family has been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3400. en:one family has been reported and no additional clinical features were provided (last curated june 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3401. en:one family has been reported with limited clinical information (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family has been reported with limited clinical information (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3402. en:one family of algerian descent has been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of algerian descent has been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3403. en:one family of french-canadian origin has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of french-canadian origin has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3404. en:one family of french-canadian origin has been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of french-canadian origin has been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3405. en:one family of irish traveller descent described (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of irish traveller descent described (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3406. en:one family of italian-american descent has been described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of italian-american descent has been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3407. en:one family of mali origin has been reported (last curated january 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of mali origin has been reported (last curated january 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3408. en:one family of puerto rican descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of puerto rican descent has been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3409. en:one family of sicilian origin has been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family of sicilian origin has been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3410. en:one family reported (as of may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (as of may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3411. en:one family reported (as of november 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (as of november 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3412. en:one family reported (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3413. en:one family reported (last curated july 2008) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (last curated july 2008) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3414. en:one family reported (last curated june 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (last curated june 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3415. en:one family reported (last curated may 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (last curated may 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3416. en:one family reported (last curated november 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (last curated november 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3417. en:one family reported (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3418. en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3419. en:one family reported with piezo2 mutation (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family reported with piezo2 mutation (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3420. en:one family with 2 affected brothers has been reported (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 2 affected brothers has been reported (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3421. en:one family with 2 affected fetuses has been reported (as of august 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 2 affected fetuses has been reported (as of august 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3422. en:one family with 2 sisters have been reported (as of march 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 2 sisters have been reported (as of march 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3423. en:one family with 3 affected girls has been reported (as of october 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 3 affected girls has been reported (as of october 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3424. en:one family with 3 affected individuals has been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 3 affected individuals has been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3425. en:one family with 3 affected males has been reported (as of october 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 3 affected males has been reported (as of october 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3426. en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3427. en:one family with 4 affected sibs has been reported (as of april 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 4 affected sibs has been reported (as of april 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3428. en:one family with 5 affected members has been reported (last curated september 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 5 affected members has been reported (last curated september 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3429. en:one family with 6 probands described (as of september 2000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with 6 probands described (as of september 2000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3430. en:one family with a cacna1b mutation has been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with a cacna1b mutation has been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3431. en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3432. en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3433. en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3434. en:one family with a fatal subacute encephalopathy has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with a fatal subacute encephalopathy has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3435. en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3436. en:one family with autosomal dominant inheritance had only progressive bone marrow failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3437. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3438. en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3439. en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3440. en:one family with confirmed genetic basis has been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with confirmed genetic basis has been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3441. en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3442. en:one french family has been reported (as of march 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one french family has been reported (as of march 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3443. en:one french family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one french family has been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3444. en:one french family has been reported (last curated march 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one french family has been reported (last curated march 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3445. en:one german family has been reported (as of september 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one german family has been reported (as of september 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3446. en:one han chinese family and one german family have been described (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one han chinese family and one german family have been described (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3447. en:one indian family has been reported (as of october 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one indian family has been reported (as of october 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3448. en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3449. en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3450. en:one italian family has been described (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one italian family has been described (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3451. en:one italian family has been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one italian family has been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3452. en:one japanese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one japanese family has been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3453. en:one japanese patient has been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one japanese patient has been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3454. en:one korean family has been reported (as of november 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one korean family has been reported (as of november 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3455. en:one large 3-generation irish family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large 3-generation irish family has been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3456. en:one large 4-generation uruguayan family reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large 4-generation uruguayan family reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3457. en:one large consanguineous arab muslim family has been reported (as of september 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large consanguineous arab muslim family has been reported (as of september 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3458. en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3459. en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3460. en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3461. en:one large family has been reported (as of 2008) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large family has been reported (as of 2008) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3462. en:one large family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large family has been reported (last curated june 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3463. en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3464. en:one large italian kindred has been reported (last curated november 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large italian kindred has been reported (last curated november 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3465. en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3466. en:one large swedish family has been reported (as of april 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one large swedish family has been reported (as of april 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3467. en:one likely consanguineous turkish family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one likely consanguineous turkish family has been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3468. en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3469. en:one male patient has been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one male patient has been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3470. en:one of the 2 most common forms of albinism in the world, along with oca2 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one of the 2 most common forms of albinism in the world, along with oca2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3471. en:one of the 2 most common forms of oca in the world along with oca1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one of the 2 most common forms of oca in the world along with oca1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3472. en:one of the most common autoimmune diseases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one of the most common autoimmune diseases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3473. en:one pakistani family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one pakistani family has been reported (last curated october 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3474. en:one pakistani family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one pakistani family has been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3475. en:one pakistani family reported (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one pakistani family reported (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3476. en:one pakistani reported (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one pakistani reported (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3477. en:one palestinian family and one lebanese family have been described (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one palestinian family and one lebanese family have been described (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3478. en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3479. en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3480. en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3481. en:one patient died at 17 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient died at 17 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3482. en:one patient died at age 7 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient died at age 7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3483. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3484. en:one patient had onset at age 4 months after normal development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient had onset at age 4 months after normal development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3485. en:one patient had onset at birth and a more severe disorder resulting in death at a young age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3486. en:one patient has been described (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been described (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3487. en:one patient has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3488. en:one patient has been reported (as of april 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of april 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3489. en:one patient has been reported (as of august 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of august 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3490. en:one patient has been reported (as of curation date may, 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of curation date may, 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3491. en:one patient has been reported (as of december 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of december 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3492. en:one patient has been reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3493. en:one patient has been reported (as of july 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of july 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3494. en:one patient has been reported (as of march 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of march 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3495. en:one patient has been reported (as of may 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of may 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3496. en:one patient has been reported (as of sept 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (as of sept 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3497. en:one patient has been reported (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3498. en:one patient has been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3499. en:one patient has been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3500. en:one patient has been reported (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3501. en:one patient has been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3502. en:one patient has been reported (last curated january 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated january 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3503. en:one patient has been reported (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3504. en:one patient has been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3505. en:one patient has been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3506. en:one patient has been reported (last curated july 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated july 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3507. en:one patient has been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3508. en:one patient has been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3509. en:one patient has been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3510. en:one patient has been reported (last curated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3511. en:one patient has been reported (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3512. en:one patient has been reported (last curated november 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated november 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3513. en:one patient has been reported (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3514. en:one patient has been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3515. en:one patient has been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3516. en:one patient has been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3517. en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3518. en:one patient reported (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient reported (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3519. en:one patient reported with col3a1 mutation (120180.0020) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient reported with col3a1 mutation (120180.0020) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3520. en:one patient reported with slitrk1 mutation (as of january 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient reported with slitrk1 mutation (as of january 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3521. en:one patient showed improvement and was thriving at 46 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient showed improvement and was thriving at 46 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3522. en:one patient studied at molecular level (as of july 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient studied at molecular level (as of july 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3523. en:one patient was asymptomatic and detected by neonatal screening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient was asymptomatic and detected by neonatal screening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3524. en:one patient was less severely affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient was less severely affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3525. en:one patient with a de novo mutation has been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with a de novo mutation has been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3526. en:one patient with a homozygous mutation has been reported (as of 14 june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3527. en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3528. en:one patient with additional features of fanconi anemia has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with additional features of fanconi anemia has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3529. en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3530. en:one patient with episodic ataxia and later onset has been reported (as of june 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3531. en:one patient with limited clinical information has been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with limited clinical information has been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3532. en:one patient with normal cognition has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with normal cognition has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3533. en:one patient with normal psychomotor development has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with normal psychomotor development has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3534. en:one patient with normal psychomotor development has been reported (last curated december 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with normal psychomotor development has been reported (last curated december 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3535. en:one patient with severe congenital onset has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with severe congenital onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3536. en:one patient with unrelated german parents has been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one patient with unrelated german parents has been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3537. en:one report of a large italian family from sardinia (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one report of a large italian family from sardinia (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3538. en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3539. en:one report of brother and sister from nonconsanguineous parents --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one report of brother and sister from nonconsanguineous parents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3540. en:one report of mother and son (last curated august 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one report of mother and son (last curated august 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3541. en:one six-generation family from northern china has been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one six-generation family from northern china has been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3542. en:one spanish family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one spanish family has been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3543. en:one spanish family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one spanish family has been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3544. en:one swedish patient has been reported (last curated november 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one swedish patient has been reported (last curated november 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3545. en:one swiss family with 19 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3546. en:one third of patients represent new mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one third of patients represent new mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3547. en:one turkish girl has been reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one turkish girl has been reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3548. en:one-third of cases are familial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one-third of cases are familial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3549. en:one-third of cases are sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:one-third of cases are sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3550. en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3551. en:only 10% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only 10% develop hypertension at 18 years of age or less | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3552. en:only 13% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only 13% develop hypertension at 18 years of age or less | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3553. en:only 46,xy individuals are affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only 46,xy individuals are affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3554. en:only apparent in patients taking eculizumab --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only apparent in patients taking eculizumab | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3555. en:only female patients reported (last curated october 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only female patients reported (last curated october 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3556. en:only individuals homozygous for risk or non-risk alleles were studied --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only individuals homozygous for risk or non-risk alleles were studied | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3557. en:only some patients showed neurologic involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only some patients showed neurologic involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3558. en:only women have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:only women have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3559. en:onset - present at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset - present at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3560. en:onset 0-12 hours after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 0-12 hours after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3561. en:onset 1-12 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 1-12 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3562. en:onset 1-70 years of age (95% by early 50's) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 1-70 years of age (95% by early 50's) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3563. en:onset 10-20 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 10-20 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3564. en:onset 13 to 63 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 13 to 63 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3565. en:onset 13-15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 13-15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3566. en:onset 14 months to 4 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 14 months to 4 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3567. en:onset 2-4 years of age in iia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 2-4 years of age in iia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3568. en:onset 20-55 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 20-55 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3569. en:onset 23 to 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 23 to 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3570. en:onset 3 months of age up to 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 3 months of age up to 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3571. en:onset 30-40 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 30-40 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3572. en:onset 3rd to 4th decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 3rd to 4th decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3573. en:onset 5 to 10 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 5 to 10 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3574. en:onset 5 to 7 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 5 to 7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3575. en:onset 5-30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 5-30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3576. en:onset 50 to 65 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 50 to 65 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3577. en:onset 6 months to 2.5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 6 months to 2.5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3578. en:onset 6 to 12 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 6 to 12 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3579. en:onset 6 to 18 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 6 to 18 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3580. en:onset 6 to 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 6 to 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3581. en:onset 6-13 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 6-13 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3582. en:onset 7 to 15 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 7 to 15 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3583. en:onset 70-90 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 70-90 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3584. en:onset 8-20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset 8-20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3585. en:onset <30 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset <30 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3586. en:onset about 6 months of age after normal growth and development in the first few months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset about 6 months of age after normal growth and development in the first few months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3587. en:onset after age 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset after age 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3588. en:onset after age 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset after age 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3589. en:onset after puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset after puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3590. en:onset after third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset after third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3591. en:onset age 14-28 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset age 14-28 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3592. en:onset age 15-25 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset age 15-25 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3593. en:onset age 2 to 7 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset age 2 to 7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3594. en:onset age 20 to 51 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset age 20 to 51 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3595. en:onset age 32 to 45 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset age 32 to 45 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3596. en:onset ages 2 to 14 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ages 2 to 14 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3597. en:onset and diagnosis may occur later (after age 20 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset and diagnosis may occur later (after age 20 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3598. en:onset around adolescence in males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset around adolescence in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3599. en:onset around age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset around age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3600. en:onset around puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset around puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3601. en:onset as neonate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset as neonate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3602. en:onset at 2 to 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 2 to 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3603. en:onset at 2 to 4 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 2 to 4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3604. en:onset at 4 to 10 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 4 to 10 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3605. en:onset at 4 to 7 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 4 to 7 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3606. en:onset at 4 to 9 weeks of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 4 to 9 weeks of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3607. en:onset at 4 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 4 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3608. en:onset at 5-24 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 5-24 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3609. en:onset at 6-36 hours of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 6-36 hours of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3610. en:onset at 6-9 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at 6-9 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3611. en:onset at age 10 to 14 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at age 10 to 14 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3612. en:onset at age 3-5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at age 3-5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3613. en:onset at age 36 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at age 36 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3614. en:onset at age 5 to 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at age 5 to 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3615. en:onset at age 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at age 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3616. en:onset at birth or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at birth or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3617. en:onset at birth or early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at birth or early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3618. en:onset at birth or in first days or life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at birth or in first days or life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3619. en:onset at birth or in first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at birth or in first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3620. en:onset at day 1 of life has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at day 1 of life has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3621. en:onset at early age, associated with sudden death in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at early age, associated with sudden death in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3622. en:onset at or soon after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset at or soon after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3623. en:onset before 10 years of age in all patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before 10 years of age in all patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3624. en:onset before 18 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before 18 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3625. en:onset before 50 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before 50 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3626. en:onset before adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3627. en:onset before age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3628. en:onset before age 20 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before age 20 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3629. en:onset before age 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before age 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3630. en:onset before age 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before age 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3631. en:onset before age 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before age 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3632. en:onset before age 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before age 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3633. en:onset before age 5 years in the absence of instruction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset before age 5 years in the absence of instruction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3634. en:onset between 1-3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 1-3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3635. en:onset between 10 and 20 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 10 and 20 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3636. en:onset between 12 and 30 years (average 22) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 12 and 30 years (average 22) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3637. en:onset between 13 to 37 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 13 to 37 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3638. en:onset between 15 and 27 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 15 and 27 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3639. en:onset between 18 and 65 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 18 and 65 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3640. en:onset between 2 and 4 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 2 and 4 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3641. en:onset between 2 to 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 2 to 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3642. en:onset between 2-5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 2-5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3643. en:onset between 28 and 42 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 28 and 42 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3644. en:onset between 28-32 weeks of gestation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 28-32 weeks of gestation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3645. en:onset between 3 and 11 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 3 and 11 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3646. en:onset between 3 and 6 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 3 and 6 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3647. en:onset between 3 and 8 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 3 and 8 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3648. en:onset between 34 and 51 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 34 and 51 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3649. en:onset between 35-43 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 35-43 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3650. en:onset between 5 and 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 5 and 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3651. en:onset between 5 to 28 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 5 to 28 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3652. en:onset between 6 and 12 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 6 and 12 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3653. en:onset between 6 and 14 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 6 and 14 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3654. en:onset between 6 and 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 6 and 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3655. en:onset between 6 and 16 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 6 and 16 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3656. en:onset between 6 and 9 months after normal early development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 6 and 9 months after normal early development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3657. en:onset between 7 and 18 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 7 and 18 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3658. en:onset between 7 and 27 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 7 and 27 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3659. en:onset between 8 and 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 8 and 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3660. en:onset between 9 and 16 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between 9 and 16 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3661. en:onset between age 2 and 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between age 2 and 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3662. en:onset between age 30-50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between age 30-50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3663. en:onset between age 4 to 7 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between age 4 to 7 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3664. en:onset between ages 1 to 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between ages 1 to 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3665. en:onset between ages 10 and 25 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between ages 10 and 25 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3666. en:onset between ages 12 and 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between ages 12 and 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3667. en:onset between ages 16-55 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between ages 16-55 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3668. en:onset between ages 2 and 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between ages 2 and 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3669. en:onset between ages 5 and 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between ages 5 and 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3670. en:onset between birth and 3 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between birth and 3 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3671. en:onset between second to sixth decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between second to sixth decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3672. en:onset between the second and sixth decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset between the second and sixth decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3673. en:onset beyond the second year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset beyond the second year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3674. en:onset bimodal, ages 16-22 and ages 57-60 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset bimodal, ages 16-22 and ages 57-60 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3675. en:onset birth to 6 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset birth to 6 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3676. en:onset birth to early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset birth to early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3677. en:onset birth to early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset birth to early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3678. en:onset by 1 year of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset by 1 year of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3679. en:onset by 3 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset by 3 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3680. en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3681. en:onset by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3682. en:onset day of life 1-10 in infants fed lactose-containing milk --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset day of life 1-10 in infants fed lactose-containing milk | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3683. en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3684. en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3685. en:onset early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3686. en:onset early in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset early in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3687. en:onset first to seventh decade with 30 to 40 year mode --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset first to seventh decade with 30 to 40 year mode | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3688. en:onset from birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset from birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3689. en:onset from first to third decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset from first to third decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3690. en:onset in 1st to 3rd decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in 1st to 3rd decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3691. en:onset in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3692. en:onset in adolescence or adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in adolescence or adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3693. en:onset in adolescence or adulthood has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in adolescence or adulthood has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3694. en:onset in adolescence or young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in adolescence or young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3695. en:onset in adolescence or young adulthood has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in adolescence or young adulthood has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3696. en:onset in adolescence to early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in adolescence to early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3697. en:onset in adulthood (third to fourth decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in adulthood (third to fourth decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3698. en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3699. en:onset in childhood (3 to 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (3 to 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3700. en:onset in childhood (5 to 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (5 to 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3701. en:onset in childhood (6-7 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (6-7 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3702. en:onset in childhood (ages 1.5 to 7 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (ages 1.5 to 7 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3703. en:onset in childhood (later than in antenatal bartter syndrome 241200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (later than in antenatal bartter syndrome 241200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3704. en:onset in childhood (mean 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (mean 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3705. en:onset in childhood (mean age 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (mean age 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3706. en:onset in childhood (range 0.5 to 7 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range 0.5 to 7 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3707. en:onset in childhood (range 1 to 12 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range 1 to 12 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3708. en:onset in childhood (range 1 to 9 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range 1 to 9 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3709. en:onset in childhood (range 2 to 16 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range 2 to 16 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3710. en:onset in childhood (range 4 to 12 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range 4 to 12 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3711. en:onset in childhood (range birth to 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range birth to 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3712. en:onset in childhood (range infancy to 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range infancy to 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3713. en:onset in childhood (range infancy to 14 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (range infancy to 14 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3714. en:onset in childhood (usually before age 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood (usually before age 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3715. en:onset in childhood of blistering and pigmentary changes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood of blistering and pigmentary changes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3716. en:onset in childhood or adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3717. en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3718. en:onset in childhood or adolescence (median age of 9 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or adolescence (median age of 9 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3719. en:onset in childhood or adolescence (range 6 to 15 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or adolescence (range 6 to 15 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3720. en:onset in childhood or adolescence in most patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or adolescence in most patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3721. en:onset in childhood or as young adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or as young adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3722. en:onset in childhood or early adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or early adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3723. en:onset in childhood or early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3724. en:onset in childhood or second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3725. en:onset in childhood or teenage years (7 to 16 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or teenage years (7 to 16 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3726. en:onset in childhood or young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3727. en:onset in childhood or youth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood or youth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3728. en:onset in childhood with exacerbation during puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood with exacerbation during puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3729. en:onset in childhood, adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood, adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3730. en:onset in childhood, adolescence, and adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood, adolescence, and adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3731. en:onset in childhood, but most noticeable in mid-teens and early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in childhood, but most noticeable in mid-teens and early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3732. en:onset in early adulthood (average 26 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early adulthood (average 26 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3733. en:onset in early childhood (2-4 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood (2-4 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3734. en:onset in early childhood (4 to 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood (4 to 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3735. en:onset in early childhood (age 3) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood (age 3) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3736. en:onset in early childhood (infancy to 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood (infancy to 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3737. en:onset in early childhood (infancy to 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood (infancy to 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3738. en:onset in early childhood (infancy to age 7 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood (infancy to age 7 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3739. en:onset in early childhood after initial normal development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood after initial normal development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3740. en:onset in early childhood or adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood or adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3741. en:onset in early childhood to puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early childhood to puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3742. en:onset in early first decade, although some patients have onset at birth or early in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early first decade, although some patients have onset at birth or early in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3743. en:onset in early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3744. en:onset in early infancy (2 to 3 months of age) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early infancy (2 to 3 months of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3745. en:onset in early infancy, between 2 weeks and 3 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early infancy, between 2 weeks and 3 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3746. en:onset in early to late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early to late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3747. en:onset in early twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in early twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3748. en:onset in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in feet and legs (peroneal distribution) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3749. en:onset in females ranges from third to seventh decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in females ranges from third to seventh decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3750. en:onset in fifth or sixth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in fifth or sixth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3751. en:onset in fifties or sixties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in fifties or sixties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3752. en:onset in first 2 decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first 2 decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3753. en:onset in first 2 decades (range 6 to 15 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first 2 decades (range 6 to 15 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3754. en:onset in first 2 decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first 2 decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3755. en:onset in first 6 months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first 6 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3756. en:onset in first 8 weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first 8 weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3757. en:onset in first and second decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first and second decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3758. en:onset in first days of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first days of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3759. en:onset in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3760. en:onset in first decade (average 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade (average 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3761. en:onset in first decade (birth to 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade (birth to 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3762. en:onset in first decade (birth to age 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade (birth to age 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3763. en:onset in first decade (e.g. 180380.0028) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade (e.g. 180380.0028) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3764. en:onset in first decade (range 1 to 7 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade (range 1 to 7 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3765. en:onset in first decade (range 1 to 9 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade (range 1 to 9 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3766. en:onset in first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3767. en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3768. en:onset in first decades (males) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first decades (males) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3769. en:onset in first few years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first few years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3770. en:onset in first hours to days of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first hours to days of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3771. en:onset in first month of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first month of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3772. en:onset in first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3773. en:onset in first months or years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first months or years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3774. en:onset in first or second decade (range 4 to 13 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first or second decade (range 4 to 13 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3775. en:onset in first or second decade (range infancy to teenage years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first or second decade (range infancy to teenage years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3776. en:onset in first or second decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first or second decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3777. en:onset in first weeks or months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first weeks or months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3778. en:onset in first weeks to months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in first weeks to months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3779. en:onset in fourth and fifth decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in fourth and fifth decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3780. en:onset in fourth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in fourth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3781. en:onset in fourth to fifth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in fourth to fifth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3782. en:onset in fourth to sixth decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in fourth to sixth decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3783. en:onset in infancy (1-2 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy (1-2 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3784. en:onset in infancy (3 months on) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy (3 months on) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3785. en:onset in infancy (3 to 7 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy (3 to 7 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3786. en:onset in infancy (average 4 months, but may be earlier) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy (average 4 months, but may be earlier) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3787. en:onset in infancy (first hours to weeks of life) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy (first hours to weeks of life) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3788. en:onset in infancy (first year of life) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy (first year of life) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3789. en:onset in infancy after normal birth and neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy after normal birth and neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3790. en:onset in infancy after weaning --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy after weaning | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3791. en:onset in infancy after weaning from being breast-fed --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy after weaning from being breast-fed | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3792. en:onset in infancy and early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy and early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3793. en:onset in infancy and third decade had been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy and third decade had been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3794. en:onset in infancy of acute hypoglycemic episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy of acute hypoglycemic episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3795. en:onset in infancy or at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3796. en:onset in infancy or childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3797. en:onset in infancy or childhood (range 1 to 13 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or childhood (range 1 to 13 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3798. en:onset in infancy or childhood (range 1 to 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or childhood (range 1 to 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3799. en:onset in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3800. en:onset in infancy or early childhood (before age 3 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or early childhood (before age 3 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3801. en:onset in infancy or early childhood (birth to 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or early childhood (birth to 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3802. en:onset in infancy or first years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or first years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3803. en:onset in infancy or in the first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or in the first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3804. en:onset in infancy or late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy or late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3805. en:onset in infancy up to 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy up to 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3806. en:onset in infancy was reported in 1 family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy was reported in 1 family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3807. en:onset in infancy, but may not be diagnosed until later in mild cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in infancy, but may not be diagnosed until later in mild cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3808. en:onset in late adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3809. en:onset in late adulthood (44 to 73 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late adulthood (44 to 73 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3810. en:onset in late childhood (after age 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late childhood (after age 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3811. en:onset in late childhood or adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late childhood or adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3812. en:onset in late childhood or early teens --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late childhood or early teens | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3813. en:onset in late childhood/adolescence (approximately 15 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late childhood/adolescence (approximately 15 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3814. en:onset in late infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3815. en:onset in late teens to early forties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late teens to early forties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3816. en:onset in late teens to twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late teens to twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3817. en:onset in late twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3818. en:onset in late twenties to thirties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late twenties to thirties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3819. en:onset in late-childhood to early adulthood (12 to 20 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in late-childhood to early adulthood (12 to 20 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3820. en:onset in lower limbs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in lower limbs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3821. en:onset in males in first to third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in males in first to third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3822. en:onset in mid to late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in mid to late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3823. en:onset in mid-adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in mid-adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3824. en:onset in mid-forties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in mid-forties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3825. en:onset in middle age (44 to 60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in middle age (44 to 60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3826. en:onset in neonatal period or before age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in neonatal period or before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3827. en:onset in neonatal period or early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in neonatal period or early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3828. en:onset in neonatal period or infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in neonatal period or infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3829. en:onset in newborns or infants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in newborns or infants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3830. en:onset in second and third decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second and third decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3831. en:onset in second and third decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second and third decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3832. en:onset in second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3833. en:onset in second decade of life progresses from mild to profound hearing loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second decade of life progresses from mild to profound hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3834. en:onset in second decade or as young adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second decade or as young adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3835. en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3836. en:onset in second decade, but sometimes earlier --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second decade, but sometimes earlier | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3837. en:onset in second half of the first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second half of the first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3838. en:onset in second or third decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second or third decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3839. en:onset in second to fifth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second to fifth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3840. en:onset in second to fourth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second to fourth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3841. en:onset in second to third decades (postlingual) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in second to third decades (postlingual) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3842. en:onset in teenage or young adult years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in teenage or young adult years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3843. en:onset in teenage years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in teenage years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3844. en:onset in teens has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in teens has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3845. en:onset in teens or early twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in teens or early twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3846. en:onset in teens or young adulthood (range 13 to 45 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in teens or young adulthood (range 13 to 45 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3847. en:onset in teens to 20's --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in teens to 20's | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3848. en:onset in teens to late twenties (range 14 to 44 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in teens to late twenties (range 14 to 44 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3849. en:onset in the 3rd decade of life or later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the 3rd decade of life or later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3850. en:onset in the first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3851. en:onset in the first decade (range birth to 8 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the first decade (range birth to 8 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3852. en:onset in the first few months of life patients may need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3853. en:onset in the first hours or days of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the first hours or days of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3854. en:onset in the first months of life (3 to 7 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the first months of life (3 to 7 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3855. en:onset in the first or second decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the first or second decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3856. en:onset in the fourth to sixth decades (mean 40 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the fourth to sixth decades (mean 40 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3857. en:onset in the neonatal period (0-38 days) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the neonatal period (0-38 days) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3858. en:onset in the perinatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the perinatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3859. en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3860. en:onset in the second or third decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the second or third decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3861. en:onset in the second to fourth decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the second to fourth decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3862. en:onset in the sixth or seventh decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in the sixth or seventh decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3863. en:onset in third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3864. en:onset in third or fourth decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in third or fourth decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3865. en:onset in third to fifth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in third to fifth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3866. en:onset in third to fourth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in third to fourth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3867. en:onset in utero in severely affected patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in utero in severely affected patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3868. en:onset in utero or at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in utero or at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3869. en:onset in utero or early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in utero or early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3870. en:onset in utero or in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in utero or in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3871. en:onset in utero, infancy, or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in utero, infancy, or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3872. en:onset in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3873. en:onset in young adulthood (range 18 to 23 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in young adulthood (range 18 to 23 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3874. en:onset in young adulthood or adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset in young adulthood or adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3875. en:onset is usually in childhood or adolescence (2 to 18 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset is usually in childhood or adolescence (2 to 18 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3876. en:onset late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3877. en:onset may also occur in early infancy, adolescence, or adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset may also occur in early infancy, adolescence, or adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3878. en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3879. en:onset may be prelingual or in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset may be prelingual or in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3880. en:onset may occur in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset may occur in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3881. en:onset mid to late adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset mid to late adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3882. en:onset occurs earlier in males than females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset occurs earlier in males than females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3883. en:onset of abnormal eye movements in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of abnormal eye movements in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3884. en:onset of acanthosis nigricans correlates with onset of diabetes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of acanthosis nigricans correlates with onset of diabetes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3885. en:onset of acanthosis nigricans in childhood or by puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of acanthosis nigricans in childhood or by puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3886. en:onset of achalasia in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of achalasia in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3887. en:onset of acne in adolescence, persists into adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of acne in adolescence, persists into adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3888. en:onset of acute encephalopathic attacks in childhood (3 to 7 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3889. en:onset of alopecia in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of alopecia in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3890. en:onset of arthritis in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of arthritis in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3891. en:onset of ataxia and neuropathy in early twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of ataxia and neuropathy in early twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3892. en:onset of ataxia between 1 and 3 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of ataxia between 1 and 3 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3893. en:onset of ataxia in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of ataxia in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3894. en:onset of ataxia in early childhood (range 15 months to 3 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of ataxia in early childhood (range 15 months to 3 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3895. en:onset of ataxia in the fifties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of ataxia in the fifties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3896. en:onset of autoinflammation in infancy or first few years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of autoinflammation in infancy or first few years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3897. en:onset of bleeding in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of bleeding in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3898. en:onset of bleeding symptoms in childhood or young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of bleeding symptoms in childhood or young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3899. en:onset of blistering skin in infancy with improvement over time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of blistering skin in infancy with improvement over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3900. en:onset of bone disease in second decade (range 18-44 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of bone disease in second decade (range 18-44 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3901. en:onset of bone fragility in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of bone fragility in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3902. en:onset of calf hypotrophy may occur earlier --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of calf hypotrophy may occur earlier | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3903. en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3904. en:onset of cardiac symptoms in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of cardiac symptoms in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3905. en:onset of cardiomyopathy may occur several months after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of cardiomyopathy may occur several months after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3906. en:onset of cataracts in late adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of cataracts in late adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3907. en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3908. en:onset of choreoathetosis in childhood or young adult (6-23 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of choreoathetosis in childhood or young adult (6-23 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3909. en:onset of choroideremia in second to third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of choroideremia in second to third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3910. en:onset of chronic progressive polyneuropathy in late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of chronic progressive polyneuropathy in late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3911. en:onset of clinical features around puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of clinical features around puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3912. en:onset of contractures in utero --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of contractures in utero | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3913. en:onset of cough in early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of cough in early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3914. en:onset of crises in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of crises in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3915. en:onset of deafness and diabetes in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of deafness and diabetes in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3916. en:onset of deafness in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of deafness in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3917. en:onset of dementia in the thirties or forties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of dementia in the thirties or forties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3918. en:onset of diabetes at less than 25 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of diabetes at less than 25 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3919. en:onset of diabetes in neonatal period/ early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of diabetes in neonatal period/ early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3920. en:onset of diabetes in teenage years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of diabetes in teenage years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3921. en:onset of dilated cardiomyopathy less than 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of dilated cardiomyopathy less than 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3922. en:onset of disease 3-30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease 3-30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3923. en:onset of disease 3-8 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease 3-8 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3924. en:onset of disease 7 months to 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease 7 months to 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3925. en:onset of disease after fourth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease after fourth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3926. en:onset of disease around 10 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease around 10 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3927. en:onset of disease before 7 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease before 7 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3928. en:onset of disease between 25 and 40 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease between 25 and 40 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3929. en:onset of disease in fourth or fifth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease in fourth or fifth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3930. en:onset of disease in late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease in late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3931. en:onset of disease within the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of disease within the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3932. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3933. en:onset of dysmorphic features and developmental delay in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of dysmorphic features and developmental delay in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3934. en:onset of dystonia at 12 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of dystonia at 12 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3935. en:onset of dystonia is in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of dystonia is in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3936. en:onset of edema in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of edema in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3937. en:onset of encephalopathy between ages 2 and 3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of encephalopathy between ages 2 and 3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3938. en:onset of end-stage renal disease 15 to 20 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of end-stage renal disease 15 to 20 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3939. en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3940. en:onset of episodic liver failure in first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of episodic liver failure in first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3941. en:onset of essential tremor between 16 and 44 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of essential tremor between 16 and 44 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3942. en:onset of febrile seizures typically between 6 months and 6 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of febrile seizures typically between 6 months and 6 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3943. en:onset of fracture usually when child begins to walk --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of fracture usually when child begins to walk | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3944. en:onset of fractures 4-18 months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of fractures 4-18 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3945. en:onset of fractures in infancy to early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of fractures in infancy to early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3946. en:onset of gait abnormalities at 8 to 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of gait abnormalities at 8 to 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3947. en:onset of gastrointestinal tumors typically occurs in the second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of gastrointestinal tumors typically occurs in the second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3948. en:onset of gaze palsy at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of gaze palsy at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3949. en:onset of hand involvement at 14 to 60 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hand involvement at 14 to 60 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3950. en:onset of hearing loss in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3951. en:onset of hearing loss in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3952. en:onset of hearing loss in childhood (range 7 to 13 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in childhood (range 7 to 13 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3953. en:onset of hearing loss in first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3954. en:onset of hearing loss in first or second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in first or second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3955. en:onset of hearing loss in late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3956. en:onset of hearing loss in late childhood or adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in late childhood or adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3957. en:onset of hearing loss in second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss in second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3958. en:onset of hearing loss prior to or during adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss prior to or during adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3959. en:onset of hearing loss ranges from childhood to young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hearing loss ranges from childhood to young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3960. en:onset of hematologic or cns tumors in the first or second decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hematologic or cns tumors in the first or second decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3961. en:onset of hemolytic anemia shortly after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hemolytic anemia shortly after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3962. en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3963. en:onset of hyperuricemia or gout in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hyperuricemia or gout in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3964. en:onset of hypoglycemia and hyperinsulinism in the neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3965. en:onset of illness often associated with acute infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of illness often associated with acute infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3966. en:onset of insulin resistance may occur in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of insulin resistance may occur in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3967. en:onset of joint contractures later in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of joint contractures later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3968. en:onset of joint pain in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of joint pain in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3969. en:onset of kyphosis in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of kyphosis in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3970. en:onset of lesions may occur in early childhood or as late as the seventh decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of lesions may occur in early childhood or as late as the seventh decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3971. en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3972. en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3973. en:onset of linear striations between 5 months and 6 years (only in affected females) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of linear striations between 5 months and 6 years (only in affected females) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3974. en:onset of lipodystrophy in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of lipodystrophy in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3975. en:onset of lipodystrophy later in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of lipodystrophy later in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3976. en:onset of liver involvement in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of liver involvement in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3977. en:onset of lymphedema before puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of lymphedema before puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3978. en:onset of macrocephaly in the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of macrocephaly in the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3979. en:onset of major clinical features in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of major clinical features in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3980. en:onset of malignancy can occur throughout life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of malignancy can occur throughout life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3981. en:onset of mental impairment in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of mental impairment in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3982. en:onset of mild symptoms in first or second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of mild symptoms in first or second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3983. en:onset of motor disturbances in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of motor disturbances in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3984. en:onset of muscle weakness around age 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of muscle weakness around age 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3985. en:onset of muscle weakness in early childhood, usually before age 10 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of muscle weakness in early childhood, usually before age 10 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3986. en:onset of muscle weakness in fifth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of muscle weakness in fifth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3987. en:onset of muscle weakness in late adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of muscle weakness in late adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3988. en:onset of myoclonus later in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of myoclonus later in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3989. en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3990. en:onset of neurologic disease in early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of neurologic disease in early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3991. en:onset of neurologic events can occur between 4 and 35 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of neurologic events can occur between 4 and 35 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3992. en:onset of neurologic features is variable, even within the same family (range early childhood to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3993. en:onset of neurologic symptoms often by 30 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of neurologic symptoms often by 30 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3994. en:onset of neuromuscular symptoms between 6 months and 1 year of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of neuromuscular symptoms between 6 months and 1 year of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3995. en:onset of normal pressure hydrocephalus after age 65 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of normal pressure hydrocephalus after age 65 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3996. en:onset of optic atrophy in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of optic atrophy in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3997. en:onset of optic atrophy in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of optic atrophy in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3998. en:onset of optic atrophy in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of optic atrophy in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  3999. en:onset of optic neuropathy is usually in early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of optic neuropathy is usually in early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4000. en:onset of osteoarthritis in teens to early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of osteoarthritis in teens to early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4001. en:onset of other symptoms in adolescence or early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of other symptoms in adolescence or early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4002. en:onset of overgrowth in second to third month of life (in some cases) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of overgrowth in second to third month of life (in some cases) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4003. en:onset of palmoplantar hyperkeratosis 7-8 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of palmoplantar hyperkeratosis 7-8 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4004. en:onset of parkinsonism in early twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of parkinsonism in early twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4005. en:onset of parkinsonism in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of parkinsonism in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4006. en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4007. en:onset of peripheral neuropathy in the first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of peripheral neuropathy in the first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4008. en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4009. en:onset of peripheral neuropathy ranges from childhood to mid-adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4010. en:onset of progressive spastic paraplegia in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of progressive spastic paraplegia in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4011. en:onset of proteinuria in the second to fourth decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of proteinuria in the second to fourth decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4012. en:onset of proteinuria in the third to fourth decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of proteinuria in the third to fourth decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4013. en:onset of renal dysfunction in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of renal dysfunction in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4014. en:onset of renal failure in adulthood (range twenties to fifties) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of renal failure in adulthood (range twenties to fifties) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4015. en:onset of scoliosis as early as 2 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of scoliosis as early as 2 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4016. en:onset of seizures around 7 to 12 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures around 7 to 12 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4017. en:onset of seizures at 2-8 days of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures at 2-8 days of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4018. en:onset of seizures before age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures before age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4019. en:onset of seizures between 2 and 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures between 2 and 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4020. en:onset of seizures between 8 and 11 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures between 8 and 11 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4021. en:onset of seizures between 9 and 12 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures between 9 and 12 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4022. en:onset of seizures in first 6 months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures in first 6 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4023. en:onset of seizures in first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures in first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4024. en:onset of seizures in first months of life (usually 4 to 7 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures in first months of life (usually 4 to 7 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4025. en:onset of seizures in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4026. en:onset of seizures in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4027. en:onset of seizures in later childhood (5 to 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures in later childhood (5 to 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4028. en:onset of seizures ranges from 2 to 11 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of seizures ranges from 2 to 11 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4029. en:onset of sensory neuropathy in later adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of sensory neuropathy in later adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4030. en:onset of skin lesions at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of skin lesions at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4031. en:onset of skin manifestations from birth to puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of skin manifestations from birth to puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4032. en:onset of sleep terrors between age 4 and 12 years old --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of sleep terrors between age 4 and 12 years old | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4033. en:onset of sleepwalking between 4 and 8 years old --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of sleepwalking between 4 and 8 years old | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4034. en:onset of slowly progressive spastic paraplegia in first or second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of slowly progressive spastic paraplegia in first or second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4035. en:onset of spastic paraplegia in first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of spastic paraplegia in first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4036. en:onset of spasticity by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of spasticity by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4037. en:onset of spasticity in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of spasticity in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4038. en:onset of symptoms 2-12 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms 2-12 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4039. en:onset of symptoms 2-4 weeks of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms 2-4 weeks of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4040. en:onset of symptoms 2-6 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms 2-6 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4041. en:onset of symptoms after age 5 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms after age 5 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4042. en:onset of symptoms age 5-30 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms age 5-30 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4043. en:onset of symptoms at 2-4 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms at 2-4 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4044. en:onset of symptoms between ages 3-8 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms between ages 3-8 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4045. en:onset of symptoms in adolescence or early adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in adolescence or early adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4046. en:onset of symptoms in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4047. en:onset of symptoms in childhood with stiff, painful joints --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in childhood with stiff, painful joints | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4048. en:onset of symptoms in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4049. en:onset of symptoms in fifth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in fifth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4050. en:onset of symptoms in first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4051. en:onset of symptoms in first or second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in first or second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4052. en:onset of symptoms in second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4053. en:onset of symptoms in second or third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in second or third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4054. en:onset of symptoms in second or third decade (mean 25 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in second or third decade (mean 25 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4055. en:onset of symptoms in second to fifth decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in second to fifth decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4056. en:onset of symptoms in second to third decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in second to third decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4057. en:onset of symptoms in the fourth to sixth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in the fourth to sixth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4058. en:onset of symptoms in third to fourth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in third to fourth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4059. en:onset of symptoms in third to sixth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms in third to sixth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4060. en:onset of symptoms less than one year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms less than one year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4061. en:onset of symptoms often associated with nonspecific febrile illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms often associated with nonspecific febrile illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4062. en:onset of symptoms usually between 12-15 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms usually between 12-15 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4063. en:onset of symptoms usually in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms usually in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4064. en:onset of symptoms within the first 2 decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of symptoms within the first 2 decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4065. en:onset of thrombocytopenia in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of thrombocytopenia in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4066. en:onset of thrombosis by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of thrombosis by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4067. en:onset of tremor usually before onset of seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of tremor usually before onset of seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4068. en:onset of tumors usually in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of tumors usually in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4069. en:onset of vision loss in young adulthood (<20 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of vision loss in young adulthood (<20 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4070. en:onset of visual loss in childhood (around age 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of visual loss in childhood (around age 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4071. en:onset of visual loss in the first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of visual loss in the first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4072. en:onset of visual loss in the first or second decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset of visual loss in the first or second decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4073. en:onset often begins in childhood or adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset often begins in childhood or adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4074. en:onset often in late adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset often in late adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4075. en:onset precipitated by fasting or illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset precipitated by fasting or illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4076. en:onset prenatally or at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset prenatally or at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4077. en:onset ranges from 2 days to 7 months (most at 2-3 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from 2 days to 7 months (most at 2-3 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4078. en:onset ranges from birth to age 4 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from birth to age 4 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4079. en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4080. en:onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from childhood to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4081. en:onset ranges from childhood to young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from childhood to young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4082. en:onset ranges from early childhood to adulthood (usually before age 15) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from early childhood to adulthood (usually before age 15) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4083. en:onset ranges from first to third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from first to third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4084. en:onset ranges from young adulthood to sixties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset ranges from young adulthood to sixties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4085. en:onset second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4086. en:onset soon after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset soon after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4087. en:onset soon after birth or within the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset soon after birth or within the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4088. en:onset typically in childhood although onset in late adolescence or early adulthood has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4089. en:onset usually after age 40 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually after age 40 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4090. en:onset usually after viral-like infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually after viral-like infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4091. en:onset usually associated with febrile illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually associated with febrile illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4092. en:onset usually at 2 to 6 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually at 2 to 6 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4093. en:onset usually at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4094. en:onset usually at birth, but may occur later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually at birth, but may occur later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4095. en:onset usually before age 10 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually before age 10 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4096. en:onset usually before age 40 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually before age 40 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4097. en:onset usually before age 40 years (range 15 to 55) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually before age 40 years (range 15 to 55) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4098. en:onset usually between 30 and 50 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually between 30 and 50 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4099. en:onset usually by age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually by age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4100. en:onset usually in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4101. en:onset usually in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4102. en:onset usually in adulthood although childhood onset has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in adulthood although childhood onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4103. en:onset usually in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4104. en:onset usually in childhood (1 to 9 years of age) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood (1 to 9 years of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4105. en:onset usually in childhood (infancy to teens) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood (infancy to teens) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4106. en:onset usually in childhood (range 17 months to 39 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood (range 17 months to 39 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4107. en:onset usually in childhood (range 6 months to 16 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood (range 6 months to 16 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4108. en:onset usually in childhood (range infancy to late childhood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood (range infancy to late childhood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4109. en:onset usually in childhood after bcg vaccination --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in childhood after bcg vaccination | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4110. en:onset usually in early adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in early adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4111. en:onset usually in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4112. en:onset usually in early childhood (but can range from infancy to adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in early childhood (but can range from infancy to adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4113. en:onset usually in early childhood, although ranges from birth to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in early childhood, although ranges from birth to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4114. en:onset usually in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4115. en:onset usually in first month of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in first month of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4116. en:onset usually in first or second decade (mean 10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in first or second decade (mean 10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4117. en:onset usually in first or second decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in first or second decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4118. en:onset usually in first to third decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in first to third decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4119. en:onset usually in first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4120. en:onset usually in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4121. en:onset usually in infancy although later onset may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in infancy although later onset may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4122. en:onset usually in infancy or childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4123. en:onset usually in infancy or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in infancy or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4124. en:onset usually in infancy or early childhood (9 months to 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in infancy or early childhood (9 months to 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4125. 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:one patient reported (last curated november 2012)
    n1=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4126. en:onset usually in late adolescence or early adulthood (range 15 to 45 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4127. en:onset usually in late infancy or childhood (1 to 6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in late infancy or childhood (1 to 6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4128. en:onset usually in mid-teens, average 15 years (range 2 to 20 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4129. en:onset usually in second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4130. en:onset usually in second decade (may occur earlier) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in second decade (may occur earlier) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4131. en:onset usually in second decade of life, although earlier and later onset have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in second decade of life, although earlier and later onset have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4132. en:onset usually in second or third decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in second or third decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4133. en:onset usually in the first 4 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in the first 4 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4134. en:onset usually in the first decade (range 0.8 to 5 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in the first decade (range 0.8 to 5 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4135. en:onset usually in the neck --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in the neck | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4136. en:onset usually in the neonatal period although later onset has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in the neonatal period although later onset has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4137. en:onset usually in the third decade (range 11 to 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in the third decade (range 11 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4138. en:onset usually in third decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in third decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4139. en:onset usually in third or fourth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in third or fourth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4140. en:onset usually in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4141. en:onset usually within first weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset usually within first weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4142. en:onset within first 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset within first 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4143. en:onset within first 2 years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset within first 2 years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4144. en:onset within first 3 months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset within first 3 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4145. en:onset within first 6 months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset within first 6 months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4146. en:onset within first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset within first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4147. en:onset within the first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:onset within the first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4148. en:ophthalmologic signs onset in first to sixth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ophthalmologic signs onset in first to sixth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4149. en:opportunistic infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:opportunistic infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4150. en:oral contraceptives may also cause symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:oral contraceptives may also cause symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4151. en:oral supplementation with ubiquinone does not result in major clinical improvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:oral supplementation with ubiquinone does not result in major clinical improvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4152. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4153. en:ossification evident 2-8 months following swelling --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ossification evident 2-8 months following swelling | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4154. en:ossification occurs spontaneously during childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ossification occurs spontaneously during childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4155. en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4156. en:other half show head circumference more retarded than height --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:other half show head circumference more retarded than height | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4157. en:other muscle become involved about 5 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:other muscle become involved about 5 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4158. en:other tumors may also occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:other tumors may also occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4159. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4160. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4161. en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4162. en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4163. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4164. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4165. en:overall course less severe compared to patients with cfh (134370) mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overall course less severe compared to patients with cfh (134370) mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4166. en:overall prevalence is between 0.5 and 14 per 100,000 people per year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4167. en:overlap with obsessive-compulsive disorder (ocd, 164230) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overlap with obsessive-compulsive disorder (ocd, 164230) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4168. en:overlap with tourette syndrome (137580) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overlap with tourette syndrome (137580) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4169. en:overlapping clinical spectrum and allelic to masa syndrome (303350) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4170. en:overlapping features of digeorge syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overlapping features of digeorge syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4171. en:overlapping features with barber-say syndrome (209885) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overlapping features with barber-say syndrome (209885) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4172. en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4173. en:pain in lower limb --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pain in lower limb | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4174. en:pain is noted to feel cold --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pain is noted to feel cold | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4175. en:pain is relieved by antiinflammatory medication --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pain is relieved by antiinflammatory medication | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4176. en:pain most commonly affects the trunk, extremities, pelvic region, buttocks --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4177. en:pain tends to occur later in the day --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pain tends to occur later in the day | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4178. en:painful cramping following ischemic exercise test --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:painful cramping following ischemic exercise test | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4179. en:pancreatic endocrine abnormalities reported in 1 family only --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pancreatic endocrine abnormalities reported in 1 family only | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4180. en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4181. en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4182. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4183. en:part of 'dent disease complex' --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:part of 'dent disease complex' | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4184. en:part of 'dent disease complex' (see 300009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:part of 'dent disease complex' (see 300009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4185. en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4186. en:partial factor viii deficiency in heterozygous carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:partial factor viii deficiency in heterozygous carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4187. en:partial laminin alpha-2 deficiency results in milder phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:partial laminin alpha-2 deficiency results in milder phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4188. en:partial or absent response to steroid treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:partial or absent response to steroid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4189. en:partially responsive to laser treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:partially responsive to laser treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4190. en:paternal age effect --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:paternal age effect | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4191. en:paternal anticipation bias --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:paternal anticipation bias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4192. en:pathogenic alleles contain 52 to 86 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pathogenic alleles contain 52 to 86 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4193. en:pathogenic alleles contain 71 to 1,300 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pathogenic alleles contain 71 to 1,300 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4194. en:pathogenic alleles contain 75-11,000 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pathogenic alleles contain 75-11,000 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4195. en:pathogenic alleles contain greater than 41 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pathogenic alleles contain greater than 41 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4196. en:pathogenic alleles have 19 to 33 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pathogenic alleles have 19 to 33 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4197. en:pathogenic cag repeat length is 51 to 78 triplets --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pathogenic cag repeat length is 51 to 78 triplets | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4198. en:patient b had a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patient b had a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4199. en:patient satisfaction with healthcare delivery:score:pt:^patient:qn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4200. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4201. en:patient with truncating mutations are more likely to develop neurologic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patient with truncating mutations are more likely to develop neurologic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4202. en:patients achieve ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients achieve ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4203. en:patients are 46,xy individuals who may be phenotypically female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are 46,xy individuals who may be phenotypically female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4204. en:patients are born with normal head circumference --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are born with normal head circumference | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4205. en:patients are often asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are often asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4206. en:patients are often misdiagnosed with spherocytosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are often misdiagnosed with spherocytosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4207. en:patients are often of mediterranean origin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are often of mediterranean origin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4208. en:patients are prone to impaired thermoregulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are prone to impaired thermoregulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4209. en:patients are severely disabled as adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are severely disabled as adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4210. en:patients are susceptible to sepsis and dehydration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients are susceptible to sepsis and dehydration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4211. 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:one patient reported (last curated november 2012)
    n1=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4212. en:patients become wheelchair-bound about 10 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients become wheelchair-bound about 10 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4213. en:patients become wheelchair-bound as adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients become wheelchair-bound as adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4214. en:patients between 30 and 60 years have discomfort with prolonged standing --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients between 30 and 60 years have discomfort with prolonged standing | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4215. en:patients can be divided into 2 groups based on whether typical hand anomalies are present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4216. en:patients can have als, ftd, or both --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients can have als, ftd, or both | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4217. en:patients can have multiple seizure types --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients can have multiple seizure types | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4218. en:patients develop acute symptoms under physiologic stress due to illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients develop acute symptoms under physiologic stress due to illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4219. en:patients develop aortic dissection with little or no aortic enlargement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients develop aortic dissection with little or no aortic enlargement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4220. en:patients develop multiple tumors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients develop multiple tumors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4221. en:patients die in infancy due to infectious complications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients die in infancy due to infectious complications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4222. en:patients do not exhibit ophthalmoplegia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients do not exhibit ophthalmoplegia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4223. en:patients do not exhibit skin pigmentation changes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients do not exhibit skin pigmentation changes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4224. en:patients do not have clinical hypothyroidism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients do not have clinical hypothyroidism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4225. en:patients do not have ectopia lentis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients do not have ectopia lentis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4226. en:patients exhibit no signs of ocular or cutaneous albinism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients exhibit no signs of ocular or cutaneous albinism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4227. en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4228. en:patients from 4 unrelated families have been reported (as of october 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients from 4 unrelated families have been reported (as of october 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4229. en:patients from old order amish community and turkey have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients from old order amish community and turkey have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4230. en:patients gradually develop tolerance to carbohydrates over time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients gradually develop tolerance to carbohydrates over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4231. en:patients have a distinctive shallow u-shaped audiogram --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients have a distinctive shallow u-shaped audiogram | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4232. 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:one patient reported (last curated november 2012)
    n1=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4233. en:patients have no abnormalities of hair, teeth, or bone --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients have no abnormalities of hair, teeth, or bone | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4234. en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4235. en:patients have normal levels of vitamin a, beta-carotene, and zinc --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients have normal levels of vitamin a, beta-carotene, and zinc | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4236. en:patients have normal pituitary function --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients have normal pituitary function | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4237. en:patients have severe anemia requiring regular transfusions for normal activity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients have severe anemia requiring regular transfusions for normal activity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4238. en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4239. en:patients look as if they have protein deficiency or malnutrition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients look as if they have protein deficiency or malnutrition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4240. en:patients may be asymptomatic, but are at risk for metabolic decompensation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may be asymptomatic, but are at risk for metabolic decompensation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4241. en:patients may become totally dependent for all activities of daily living --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may become totally dependent for all activities of daily living | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4242. en:patients may become ventilator-dependent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may become ventilator-dependent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4243. en:patients may become wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4244. en:patients may become wheelchair-bound after about 12 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may become wheelchair-bound after about 12 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4245. en:patients may become wheelchair-bound as adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may become wheelchair-bound as adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4246. en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4247. en:patients may have benign course until late adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may have benign course until late adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4248. en:patients may have either dementia or motor neuron disease or both --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may have either dementia or motor neuron disease or both | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4249. en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4250. en:patients may have recurrent infections due to immunosuppressive therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may have recurrent infections due to immunosuppressive therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4251. en:patients may have seizures only, dyskinesia only, or both --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may have seizures only, dyskinesia only, or both | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4252. en:patients may or may not have dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may or may not have dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4253. en:patients may present with autoimmune features or primary immunodeficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may present with autoimmune features or primary immunodeficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4254. en:patients may present with either renal or neurologic symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may present with either renal or neurologic symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4255. en:patients may present with recurrent illnesses or infections, or shock --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may present with recurrent illnesses or infections, or shock | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4256. en:patients may require implantable cardioverter defibrillators --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may require implantable cardioverter defibrillators | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4257. en:patients may show both optic neuropathy and dystonia or only 1 disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may show both optic neuropathy and dystonia or only 1 disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4258. en:patients may show intermittent signs of improvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may show intermittent signs of improvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4259. en:patients may show normal development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients may show normal development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4260. en:patients need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients need lifelong total parenteral nutrition | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4261. en:patients need support with walking or are wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients need support with walking or are wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4262. en:patients of brazilian origin have a pure cerebellar atrophy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients of brazilian origin have a pure cerebellar atrophy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4263. en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4264. en:patients often become wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients often become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4265. en:patients often become wheelchair-bound 3 to 4 decades after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients often become wheelchair-bound 3 to 4 decades after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4266. en:patients often have a more severe and complicated phenotype in addition to peo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients often have a more severe and complicated phenotype in addition to peo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4267. en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4268. en:patients often nonambulatory by the mid-twenties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients often nonambulatory by the mid-twenties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4269. en:patients often require cardiac transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients often require cardiac transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4270. en:patients often require implantation of a pacemaker --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients often require implantation of a pacemaker | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4271. en:patients older than 60 years have severe degenerative arthritis in the feet --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients older than 60 years have severe degenerative arthritis in the feet | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4272. en:patients present at birth with respiratory distress or poor head control --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients present at birth with respiratory distress or poor head control | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4273. en:patients present with groin pain --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients present with groin pain | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4274. en:patients remain ambulatory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients remain ambulatory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4275. en:patients require achilles tendon lengthening in first or second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients require achilles tendon lengthening in first or second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4276. en:patients retain ambulation even after long disease course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients retain ambulation even after long disease course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4277. en:patients show sorbitol and glycerol intolerance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients show sorbitol and glycerol intolerance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4278. en:patients usually require total thyroidectomy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients usually require total thyroidectomy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4279. en:patients walk on tips of toes with dorsal foot deviated laterally --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients walk on tips of toes with dorsal foot deviated laterally | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4280. en:patients who acquire ability to walk may lose it --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients who acquire ability to walk may lose it | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4281. en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4282. en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4283. en:patients with adult onset present with psychiatric features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with adult onset present with psychiatric features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4284. en:patients with atypical form have milder disease, with onset in the first months of life and increased survival --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4285. en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4286. en:patients with contiguous gene deletion of 8q24 have more severe features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with contiguous gene deletion of 8q24 have more severe features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4287. en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4288. en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4289. en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4290. en:patients with homozygous mutations have a more severe disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with homozygous mutations have a more severe disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4291. en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4292. en:patients with later onset do not have dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with later onset do not have dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4293. en:patients with later onset have better prognosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with later onset have better prognosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4294. en:patients with longer disease duration show motor neuron involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with longer disease duration show motor neuron involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4295. en:patients with meb have less severe features and longer survival --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with meb have less severe features and longer survival | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4296. en:patients with meb may acquire ability to walk and a few words --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with meb may acquire ability to walk and a few words | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4297. en:patients with medication-resistant hypertension require bilateral adrenalectomy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with medication-resistant hypertension require bilateral adrenalectomy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4298. en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4299. en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4300. en:patients with mutation in the nhlrc1 gene have slightly longer survival --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with mutation in the nhlrc1 gene have slightly longer survival | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4301. en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4302. en:patients with null mutations have neonatal onset within 72 hours of birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with null mutations have neonatal onset within 72 hours of birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4303. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4304. en:patients with recessive mutations have a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with recessive mutations have a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4305. en:patients with residual enzyme activity have childhood or adult onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with residual enzyme activity have childhood or adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4306. en:patients with t2 deficiency and urinary abnormalities may be asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4307. en:patients with the autosomal recessive disorder have a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with the autosomal recessive disorder have a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4308. en:patients with total c4 deficiency are homozygous for double null c4 haplotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4309. en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4310. en:patients younger than 30 years complain only that they cannot run fast --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:patients younger than 30 years complain only that they cannot run fast | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4311. en:pavm more frequent in hht1 than hht2 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pavm more frequent in hht1 than hht2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4312. en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4313. en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4314. en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4315. en:peak age of onset in second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:peak age of onset in second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4316. en:peak age of onset in second decade (range childhood to 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:peak age of onset in second decade (range childhood to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4317. en:peak age of onset in second decade (range childhood to 76 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:peak age of onset in second decade (range childhood to 76 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4318. en:pectus carinatum present in obligate carrier mothers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pectus carinatum present in obligate carrier mothers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4319. en:pedigrees compatible with autosomal dominant inheritance have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pedigrees compatible with autosomal dominant inheritance have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4320. en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4321. en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4322. en:penetrance 86% by 50 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:penetrance 86% by 50 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4323. en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4324. en:penetrance is usually complete by age 65 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:penetrance is usually complete by age 65 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4325. en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4326. en:penetrance of disease is complete between 30 and 40 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:penetrance of disease is complete between 30 and 40 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4327. en:peo is not always present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:peo is not always present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4328. en:percentages based on review of 51 published cases (pmid 24891339) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:percentages based on review of 51 published cases (pmid 24891339) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4329. en:performing laboratory medical director:id:pt:facility:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:performing laboratory medical director:id:pt:facility:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4330. en:performing laboratory name:identifier:point in time:facility:nominal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:performing laboratory name:identifier:point in time:facility:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4331. en:performing laboratory phone:tele:pt:facility:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:performing laboratory phone:tele:pt:facility:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4332. en:performing laboratory:addr:pt:facility:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:performing laboratory:addr:pt:facility:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4333. en:perinatal death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:perinatal death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4334. en:perinatal lethal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:perinatal lethal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4335. en:perinatal lethality --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:perinatal lethality | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4336. en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4337. en:periodontium is less severely affected than in papillon-lefevre syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:periodontium is less severely affected than in papillon-lefevre syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4338. en:peripheral neuropathy occurs in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:peripheral neuropathy occurs in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4339. en:periventricular heterotopia (300049) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:periventricular heterotopia (300049) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4340. en:persistence of febrile seizures beyond age 6 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:persistence of febrile seizures beyond age 6 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4341. en:persistent bleeding after injury or surgery --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:persistent bleeding after injury or surgery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4342. en:persistent bleeding after trauma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:persistent bleeding after trauma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4343. en:persistent exposure to fructose leads to chronic liver and kidney complications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:persistent exposure to fructose leads to chronic liver and kidney complications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4344. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4345. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4346. en:phenotype is classically defined as aplasia cutis and transverse limb defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype is classically defined as aplasia cutis and transverse limb defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4347. en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4348. en:phenotype is worsened by cold temperature --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype is worsened by cold temperature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4349. en:phenotype may be exacerbated by maltreatment in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype may be exacerbated by maltreatment in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4350. en:phenotype may be influenced by maternal alcohol consumption during pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4351. en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4352. en:phenotype may or may not be consistent within a family. --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype may or may not be consistent within a family. | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4353. en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4354. en:phenotypic heterogeneity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic heterogeneity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4355. en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4356. en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4357. en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4358. en:phenotypic overlap with currarino syndrome (176450) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with currarino syndrome (176450) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4359. en:phenotypic overlap with cytochrome c oxidase deficiency (220110) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4360. en:phenotypic overlap with denys-drash syndrome (194080). --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with denys-drash syndrome (194080). | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4361. en:phenotypic overlap with desbuquois dysplasia (251450) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with desbuquois dysplasia (251450) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4362. en:phenotypic overlap with fhm1 (141500) and sca6 (183086) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4363. en:phenotypic overlap with frontotemporal dementia (600274) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with frontotemporal dementia (600274) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4364. en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4365. en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4366. en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4367. en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4368. en:phenotypic overlap with parkinson disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with parkinson disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4369. en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4370. en:phenotypic overlap with revesz syndrome (268130) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with revesz syndrome (268130) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4371. en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4372. en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4373. en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4374. en:phenotypic similarities to angelman syndrome (105830) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic similarities to angelman syndrome (105830) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4375. en:phenotypic similarities to costello syndrome (218040) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic similarities to costello syndrome (218040) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4376. en:phenotypic similarities to leigh syndrome (256000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic similarities to leigh syndrome (256000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4377. en:phenotypic similarities to noonan syndrome (163950) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic similarities to noonan syndrome (163950) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4378. en:phenotypic variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4379. en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4380. en:phenotypic variability within families and among patients carrying the same mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic variability within families and among patients carrying the same mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4381. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4382. en:phenotypic variability, intrafamilial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic variability, intrafamilial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4383. en:phenotypic variation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic variation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4384. en:phenotypic variation (may affect language expression, reception, and/or articulation) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic variation (may affect language expression, reception, and/or articulation) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4385. en:phenotypic variation in severity and symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypic variation in severity and symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4386. en:phenotypically indistinguishable from hemophilia a (306700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypically indistinguishable from hemophilia a (306700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4387. en:phenotypically mild form of joubert syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:phenotypically mild form of joubert syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4388. en:physical features are apparent at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:physical features are apparent at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4389. en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4390. en:pigment does not develop with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pigment does not develop with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4391. en:pigmentary abnormalities apparent at birth or in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pigmentary abnormalities apparent at birth or in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4392. en:pigmented spots appear in infancy through childhood and fade in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pigmented spots appear in infancy through childhood and fade in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4393. en:plantar contractures become apparent with onset of ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:plantar contractures become apparent with onset of ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4394. en:plasma cholinesterase measurement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:plasma cholinesterase measurement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4395. en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4396. en:pneumocytosis carinii infection (12 to 42%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pneumocytosis carinii infection (12 to 42%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4397. en:poland syndrome can be associated with moebius syndrome (157900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poland syndrome can be associated with moebius syndrome (157900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4398. en:polg mutations account for approximately 45% of all peo cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:polg mutations account for approximately 45% of all peo cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4399. en:polyhydramnios --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:polyhydramnios | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4400. en:polyps occur in teens --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:polyps occur in teens | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4401. en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4402. en:poor or no response to glucocorticoid treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor or no response to glucocorticoid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4403. en:poor outcome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor outcome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4404. en:poor response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor response to acetylcholinesterase inhibitors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4405. en:poor response to acetylcholinesterase inhibitors or cholinergic agents --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4406. en:poor response to g-csf treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor response to g-csf treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4407. en:poor response to l-dopa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor response to l-dopa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4408. en:poor response to levodopa treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor response to levodopa treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4409. en:poor response to the c5 inhibitor eculizumab --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:poor response to the c5 inhibitor eculizumab | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4410. en:positive family history in 12-33% patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:positive family history in 12-33% patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4411. en:positive response to treatment with growth hormone --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:positive response to treatment with growth hormone | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4412. en:possible autosomal dominant (165199) and autosomal recessive (258650) forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4413. en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4414. en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4415. en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4416. en:possible defect of a specific lipase in the pathway of free fatty acid oxidation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4417. en:possible favorable response to ketogenic diet --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible favorable response to ketogenic diet | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4418. en:possible genetic heterogeneity (linkage to xp22 in some families) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible genetic heterogeneity (linkage to xp22 in some families) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4419. en:possible gonadal mosaicism in one report --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible gonadal mosaicism in one report | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4420. en:possible increase of aneuploidy in offspring --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible increase of aneuploidy in offspring | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4421. en:possible x-linked dominant inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible x-linked dominant inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4422. en:possible x-linked inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible x-linked inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4423. en:possible x-linked recessive inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possible x-linked recessive inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4424. en:possibly allelic to cohen syndrome (216550) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possibly allelic to cohen syndrome (216550) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4425. en:possibly x-linked recessive inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:possibly x-linked recessive inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4426. en:postlingual onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:postlingual onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4427. en:preaxial involvement in approximately 60% of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:preaxial involvement in approximately 60% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4428. en:precipitated by fatigue or alcohol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitated by fatigue or alcohol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4429. en:precipitated by febrile illness and fasting --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitated by febrile illness and fasting | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4430. en:precipitated by fever --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitated by fever | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4431. en:precipitated by general anesthesia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitated by general anesthesia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4432. en:precipitated by infection, fasting, or intercurrent illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitated by infection, fasting, or intercurrent illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4433. en:precipitated by mechanical compression or pressure on nerve --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitated by mechanical compression or pressure on nerve | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4434. en:precipitated by sleep deprivation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitated by sleep deprivation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4435. en:precipitating factors - ingestion of wheat gluten, rye, and/or barley --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4436. en:precipitating factors include viral illness and pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:precipitating factors include viral illness and pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4437. en:predisposition to neoplasia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:predisposition to neoplasia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4438. en:predominantly occurs in young males with a high rate of atopic disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:predominantly occurs in young males with a high rate of atopic disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4439. en:predominantly occurs in young males with high rate of atopic disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:predominantly occurs in young males with high rate of atopic disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4440. en:preferably treated with iodine supplementation rather than thyroid hormone replacement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4441. en:prelingual onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prelingual onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4442. en:prelingual onset in males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prelingual onset in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4443. en:premature aging syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:premature aging syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4444. en:premature death may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:premature death may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4445. en:prenatal diagnosis available --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal diagnosis available | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4446. en:prenatal diagnosis by ultrasound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal diagnosis by ultrasound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4447. en:prenatal history of maternal diabetes in 35% of cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal history of maternal diabetes in 35% of cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4448. en:prenatal onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4449. en:prenatal onset or onset at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal onset or onset at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4450. en:prenatal onset or onset in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal onset or onset in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4451. en:prenatal or neonatal onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal or neonatal onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4452. en:prenatal or perinatal death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal or perinatal death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4453. en:prenatal or perinatal lethality in hemizygous males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prenatal or perinatal lethality in hemizygous males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4454. en:preponderance of affected females (80%) to males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:preponderance of affected females (80%) to males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4455. en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4456. en:presence of additional features is variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presence of additional features is variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4457. en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4458. en:present at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:present at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4459. en:present in infancy in all affected individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:present in infancy in all affected individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4460. en:present in jewish yemenite population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:present in jewish yemenite population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4461. en:presentation after 18 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation after 18 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4462. en:presentation after 6 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation after 6 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4463. en:presentation at 3-6 weeks of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation at 3-6 weeks of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4464. en:presentation between 6-18 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation between 6-18 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4465. 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:one patient reported (last curated november 2012)
    n1=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4466. en:presentation in childhood includes waddling gait and knee pain/stiffness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation in childhood includes waddling gait and knee pain/stiffness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4467. en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4468. en:presentation in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4469. en:presentation in first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation in first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4470. en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4471. en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4472. en:presenting symptoms in the upper body --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presenting symptoms in the upper body | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4473. en:presents as early-onset strokes in 43% of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presents as early-onset strokes in 43% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4474. en:presents at 2 to 3 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presents at 2 to 3 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4475. en:presents at a later age than sporadic wilms tumor --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presents at a later age than sporadic wilms tumor | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4476. en:presents at a later stage than sporadic wilms tumor --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presents at a later stage than sporadic wilms tumor | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4477. en:presents at birth or early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presents at birth or early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4478. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4479. en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4480. en:presumed autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:presumed autosomal dominant with incomplete penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4481. en:prevalence 1 in 1,250 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence 1 in 1,250 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4482. en:prevalence 1 in 8000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence 1 in 8000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4483. en:prevalence 1-2% in northern european populations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence 1-2% in northern european populations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4484. en:prevalence 1/10,000-1/15,000 female births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence 1/10,000-1/15,000 female births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4485. en:prevalence approximately 1 in 4,000 males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence approximately 1 in 4,000 males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4486. en:prevalence estimated at 1 in 50,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence estimated at 1 in 50,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4487. en:prevalence estimated at 1 in 86,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence estimated at 1 in 86,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4488. en:prevalence in caucasians is 1 in 1,000,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in caucasians is 1 in 1,000,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4489. en:prevalence in finland is 1 in 25,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in finland is 1 in 25,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4490. en:prevalence in norway is 1 in 80,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in norway is 1 in 80,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4491. en:prevalence in poland is 1 in 129,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in poland is 1 in 129,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4492. en:prevalence in sardinia is 1 in 14,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in sardinia is 1 in 14,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4493. en:prevalence in slovenia is 1 in 43,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in slovenia is 1 in 43,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4494. en:prevalence in taiwan is 1 in 132,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in taiwan is 1 in 132,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4495. en:prevalence in the finnish population of 5.8 per million --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence in the finnish population of 5.8 per million | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4496. en:prevalence is estimated to be 1 in 1,100,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence is estimated to be 1 in 1,100,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4497. en:prevalence is estimated to be 1 in 150,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence is estimated to be 1 in 150,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4498. en:prevalence much higher in whites than blacks --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence much higher in whites than blacks | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4499. en:prevalence of 0.5 to 1 in 1,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 0.5 to 1 in 1,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4500. en:prevalence of 0.6 to 10 per 100,000 individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 0.6 to 10 per 100,000 individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4501. en:prevalence of 1 in 1,429 in tanzania --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 1,429 in tanzania | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4502. en:prevalence of 1 in 1,500 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 1,500 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4503. en:prevalence of 1 in 10,000 african-americans --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 10,000 african-americans | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4504. en:prevalence of 1 in 10,000 caucasians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 10,000 caucasians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4505. en:prevalence of 1 in 100,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 100,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4506. en:prevalence of 1 in 150 to 1 in 1,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 150 to 1 in 1,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4507. en:prevalence of 1 in 150,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 150,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4508. en:prevalence of 1 in 2,833 in zimbabwe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 2,833 in zimbabwe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4509. en:prevalence of 1 in 200,000 to 1 in 800,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 200,000 to 1 in 800,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4510. en:prevalence of 1 in 227 hopi indians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 227 hopi indians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4511. en:prevalence of 1 in 240 zuni indians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 240 zuni indians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4512. en:prevalence of 1 in 28,000 african-americans --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 28,000 african-americans | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4513. en:prevalence of 1 in 28,000 caucasians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 28,000 caucasians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4514. en:prevalence of 1 in 3,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 3,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4515. en:prevalence of 1 in 3,900 in south africa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 3,900 in south africa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4516. en:prevalence of 1 in 30,000 in northern europe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 30,000 in northern europe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4517. en:prevalence of 1 in 300,000 in quebec --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 300,000 in quebec | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4518. en:prevalence of 1 in 40,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 40,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4519. en:prevalence of 1 in 40,000 among caucasians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 40,000 among caucasians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4520. en:prevalence of 1 in 40,000 to 1 in 80,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 40,000 to 1 in 80,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4521. en:prevalence of 1 in 50,000-70,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 50,000-70,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4522. en:prevalence of 1 in 6,000 to 1 in 10,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 6,000 to 1 in 10,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4523. en:prevalence of 1 in 7,900 in cameroon --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 7,900 in cameroon | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4524. en:prevalence of 1 in 70,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 1 in 70,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4525. en:prevalence of 19 in 1,000,000 in sweden --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 19 in 1,000,000 in sweden | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4526. en:prevalence of 2-7% in english-speaking preschool children --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 2-7% in english-speaking preschool children | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4527. en:prevalence of 7 in 100,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of 7 in 100,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4528. en:prevalence of approximately 1 in 2000 individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of approximately 1 in 2000 individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4529. en:prevalence of essential tremor ranges from 0.4 to 6% in the general population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4530. en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4531. en:prevalence of in 1 in 8,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of in 1 in 8,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4532. en:prevalence of sleep terrors about 3% in children --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of sleep terrors about 3% in children | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4533. en:prevalence of sleep terrors less than 1% in adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of sleep terrors less than 1% in adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4534. en:prevalence of sleepwalking about 3% in adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of sleepwalking about 3% in adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4535. en:prevalence of sleepwalking up to 26% in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of sleepwalking up to 26% in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4536. en:prevalence of true hypoprothrombinemia is 1 in 2 million --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence of true hypoprothrombinemia is 1 in 2 million | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4537. en:prevalence ranges from 1 in 12,000 to 1 in 50,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4538. en:prevalence rates average 10-20% of the general population over age 60 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalence rates average 10-20% of the general population over age 60 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4539. en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4540. en:prevalent among individuals of east asian descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent among individuals of east asian descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4541. en:prevalent among patients of asian descent, particularly japanese --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent among patients of asian descent, particularly japanese | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4542. en:prevalent among the amish --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent among the amish | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4543. en:prevalent in arabic, turkish, armenian, and sephardic jewish populations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4544. en:prevalent in ashkenazi jews --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in ashkenazi jews | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4545. en:prevalent in bulgarian gypsies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in bulgarian gypsies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4546. en:prevalent in newfoundland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in newfoundland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4547. en:prevalent in north africa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in north africa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4548. en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4549. en:prevalent in quebec --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in quebec | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4550. en:prevalent in sweden --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in sweden | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4551. en:prevalent in the old order amish in the u.s. and in finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prevalent in the old order amish in the u.s. and in finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4552. en:primarily diagnosed in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:primarily diagnosed in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4553. en:primary teeth affected greater than secondary teeth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:primary teeth affected greater than secondary teeth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4554. en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4555. en:profound dementia and death usually occurs by age 50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:profound dementia and death usually occurs by age 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4556. en:prognosis good --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prognosis good | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4557. en:progresses through puberty, then stabilizes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progresses through puberty, then stabilizes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4558. en:progresses to involve upper limbs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progresses to involve upper limbs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4559. en:progression in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progression in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4560. en:progression more frequent in men than women --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progression more frequent in men than women | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4561. 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:one patient reported (last curated november 2012)
    n1=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4562. en:progression of phenotype with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progression of phenotype with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4563. en:progression of the disorder is precipitated by viral symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progression of the disorder is precipitated by viral symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4564. en:progression to profound hearing loss affecting all frequencies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progression to profound hearing loss affecting all frequencies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4565. en:progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4566. en:progressive cerebellar ataxia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive cerebellar ataxia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4567. en:progressive clinical course with onset in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive clinical course with onset in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4568. en:progressive deafness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive deafness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4569. en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4570. en:progressive disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4571. en:progressive disease is seen in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disease is seen in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4572. en:progressive disease with onset in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disease with onset in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4573. en:progressive disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4574. en:progressive disorder due to secondary myopathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disorder due to secondary myopathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4575. en:progressive disorder regarding both neurologic and renal symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disorder regarding both neurologic and renal symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4576. en:progressive disorder that may become stable in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disorder that may become stable in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4577. en:progressive disorder, usually with rapid, relentless course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disorder, usually with rapid, relentless course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4578. en:progressive disorder, with older patients exhibiting more severe symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive disorder, with older patients exhibiting more severe symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4579. en:progressive neurologic deterioration if untreated --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive neurologic deterioration if untreated | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4580. en:progressive or slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive or slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4581. en:progressive renal disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive renal disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4582. en:progressive sclerosis with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive sclerosis with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4583. en:progressive skeletal dysplasia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive skeletal dysplasia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4584. en:progressive, with full manifestations at puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:progressive, with full manifestations at puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4585. en:prominent psychiatric symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:prominent psychiatric symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4586. en:protein c deficiency is found in 3-4% of patients with venous thromboembolism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4587. en:protein s deficiency is found in 2-3% of patients with thromboembolism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:protein s deficiency is found in 2-3% of patients with thromboembolism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4588. en:protracted course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:protracted course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4589. en:protracted disease course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:protracted disease course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4590. en:provoked by crying or emotional upset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:provoked by crying or emotional upset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4591. en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4592. en:pseudomembrane formation triggered by injury, infection, irritation, surgery --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4593. en:psychiatric symptoms may be the presenting sign --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:psychiatric symptoms may be the presenting sign | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4594. en:psychomotor delay may already be apparent at onset of seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:psychomotor delay may already be apparent at onset of seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4595. en:ptosis is usually presenting feature --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ptosis is usually presenting feature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4596. en:pulsatile headache lasts hours to days --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pulsatile headache lasts hours to days | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4597. en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4598. en:pyogenic arthritis, pyoderma gangrenosum and acne --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pyogenic arthritis, pyoderma gangrenosum and acne | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4599. en:pyridoxine responsive individuals often have milder manifestations than those not responsive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4600. en:radioresistant dna synthesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:radioresistant dna synthesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4601. en:range of onset 11 to 50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:range of onset 11 to 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4602. en:rapid disease progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapid disease progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4603. en:rapid disease progression from ages 40 to 50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapid disease progression from ages 40 to 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4604. en:rapid progression in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapid progression in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4605. en:rapid progression to disability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapid progression to disability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4606. en:rapidly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4607. en:rapidly progressive (6-24 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive (6-24 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4608. en:rapidly progressive course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4609. en:rapidly progressive deterioration (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive deterioration (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4610. en:rapidly progressive disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4611. en:rapidly progressive episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4612. en:rapidly progressive neonatal onset with early death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive neonatal onset with early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4613. en:rapidly progressive to persistent vegetative state or death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive to persistent vegetative state or death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4614. en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4615. en:rare adult cases reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rare adult cases reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4616. en:rare adult onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rare adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4617. en:rare autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rare autosomal dominant inheritance has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4618. en:rare disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rare disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4619. en:rare patients with homozygous null mutations have most severe disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rare patients with homozygous null mutations have most severe disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4620. en:rare spontaneous improvement occurs (8%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rare spontaneous improvement occurs (8%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4621. en:rare survival to teens --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rare survival to teens | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4622. en:rarely produces clinical jaundice --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rarely produces clinical jaundice | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4623. en:rarely reported in infants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rarely reported in infants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4624. en:rarely, patients may be asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rarely, patients may be asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4625. en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4626. en:rash, edema, and arthralgia may occur during crisis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rash, edema, and arthralgia may occur during crisis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4627. en:ratio female to male, 19:10 in index family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ratio female to male, 19:10 in index family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4628. en:reason for lab test:type:pt:bld.dot:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reason for lab test:type:pt:bld.dot:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4629. en:recessive inheritance has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recessive inheritance has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4630. en:recessive inheritance is rare --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recessive inheritance is rare | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4631. en:recurrence is possible --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrence is possible | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4632. en:recurrence of symptoms after cholecystectomy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrence of symptoms after cholecystectomy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4633. en:recurrent acute episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent acute episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4634. en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4635. en:recurrent bacterial infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent bacterial infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4636. en:recurrent bacterial infections beginning in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent bacterial infections beginning in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4637. en:recurrent bacterial infections with onset in the first or second year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent bacterial infections with onset in the first or second year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4638. en:recurrent bacterial, viral, and fungal infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent bacterial, viral, and fungal infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4639. en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4640. en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4641. en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4642. en:reduced exercise tolerance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced exercise tolerance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4643. en:reduced fertility --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced fertility | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4644. en:reduced fetal movement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced fetal movement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4645. en:reduced life expectancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced life expectancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4646. en:reduced life expectancy, death by 10 years of age in 70% of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced life expectancy, death by 10 years of age in 70% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4647. en:reduced longevity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced longevity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4648. en:reduced penetrance (75%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance (75%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4649. en:reduced penetrance (89%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance (89%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4650. en:reduced penetrance (about 60%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance (about 60%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4651. en:reduced penetrance (approximately 54%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance (approximately 54%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4652. en:reduced penetrance (approximately 87%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance (approximately 87%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4653. en:reduced penetrance has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4654. en:reduced penetrance in females --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance in females | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4655. en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4656. en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4657. en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4658. en:reference lab test identifier:id:xxx:reference lab test:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reference lab test identifier:id:xxx:reference lab test:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4659. en:reference lab test method:type:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4660. en:reference lab test name:type:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4661. en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4662. en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4663. en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4664. en:regional, racial, and ethnic clustering has been noted --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:regional, racial, and ethnic clustering has been noted | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4665. en:regression in infancy (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:regression in infancy (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4666. en:relapsing-remitting course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relapsing-remitting course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4667. en:relationship of rare neuropsychiatric signs to histidinemia is unclear --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4668. en:relatively benign course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relatively benign course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4669. en:relatively benign course after acute episodes in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relatively benign course after acute episodes in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4670. en:relatively mild course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relatively mild course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4671. en:relatively mild cutis laxa, associated with severe vascular abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relatively mild cutis laxa, associated with severe vascular abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4672. en:relatively slow progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relatively slow progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4673. en:relatives with multiple small congenital pigmented nevi --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relatives with multiple small congenital pigmented nevi | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4674. en:relief is achieved by cooling or by elevating the extremities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:relief is achieved by cooling or by elevating the extremities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4675. en:renal anomalies are not always present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:renal anomalies are not always present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4676. en:renal dysfunction normalizes in the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:renal dysfunction normalizes in the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4677. en:renal failure in second or third decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:renal failure in second or third decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4678. en:renal involvement and coloboma may not be present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:renal involvement and coloboma may not be present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4679. en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4680. en:repeat is unstable if > 52 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:repeat is unstable if > 52 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4681. en:repeat tracts may expand as patient ages (somatic instability) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:repeat tracts may expand as patient ages (somatic instability) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4682. en:reported cases all sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported cases all sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4683. en:reported in 1 family (last curated may 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in 1 family (last curated may 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4684. en:reported in 2 sibs (february 1991) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in 2 sibs (february 1991) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4685. en:reported in a large hutterite family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in a large hutterite family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4686. en:reported in individuals of amish or mennonite descent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in individuals of amish or mennonite descent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4687. en:reported in individuals of french canadian origin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in individuals of french canadian origin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4688. en:reported in individuals of jewish moroccan ancestry --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in individuals of jewish moroccan ancestry | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4689. en:reported in individuals of sephardic jewish ancestry --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in individuals of sephardic jewish ancestry | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4690. en:reported in the ohio amish anabaptist community --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported in the ohio amish anabaptist community | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4691. en:reported patients are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reported patients are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4692. en:resembles intrauterine torch infection but without intrauterine infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:resembles intrauterine torch infection but without intrauterine infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4693. en:resembles pseudo-torch syndrome (251290) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:resembles pseudo-torch syndrome (251290) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4694. en:residual neurologic deficits are slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:residual neurologic deficits are slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4695. en:resource identifier:uri:pt:study:nom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:resource identifier:uri:pt:study:nom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4696. en:respiratory distress may be precipitated by viral respiratory infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:respiratory distress may be precipitated by viral respiratory infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4697. en:response to acetazolamide --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:response to acetazolamide | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4698. en:response to benadryl (diphenhydramine) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:response to benadryl (diphenhydramine) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4699. en:response to zinc supplementation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:response to zinc supplementation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4700. en:responsive to high-dose biotin or biotin/thiamine treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:responsive to high-dose biotin or biotin/thiamine treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4701. en:responsive to oral mannose therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:responsive to oral mannose therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4702. en:responsive to thiazide diuretics --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:responsive to thiazide diuretics | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4703. en:responsive to treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:responsive to treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4704. en:responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:responsive to vitamin b12 therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4705. en:results in severe motor disability and loss of independent ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:results in severe motor disability and loss of independent ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4706. en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4707. en:reticulate hyperpigmentation onset birth - 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:reticulate hyperpigmentation onset birth - 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4708. en:retinal arteriolar tortuosity develops in adolescence and is progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:retinal arteriolar tortuosity develops in adolescence and is progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4709. en:retinal degeneration not always present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:retinal degeneration not always present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4710. en:retinal hemorrhages usually resolve without sequelae --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:retinal hemorrhages usually resolve without sequelae | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4711. en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4712. en:rickets and premature primary tooth loss occur in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:rickets and premature primary tooth loss occur in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4713. en:right side affected greater than left side --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:right side affected greater than left side | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4714. 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:one patient reported (last curated november 2012)
    n1=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4715. en:risk haplotype found in dutch families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk haplotype found in dutch families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4716. en:risk of affected offspring in maternal translocation carrier - 4-10% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of affected offspring in maternal translocation carrier - 4-10% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4717. en:risk of affected offspring in paternal translocation carrier - 0-7% --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of affected offspring in paternal translocation carrier - 0-7% | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4718. en:risk of death due to cardiac dysfunction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of death due to cardiac dysfunction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4719. en:risk of sudden death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of sudden death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4720. en:risk of sudden death due to cardiac arrhythmias --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of sudden death due to cardiac arrhythmias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4721. en:risk of sudden death due to cardiac defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of sudden death due to cardiac defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4722. en:risk of sudden death in childhood due to cardiac arrest --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of sudden death in childhood due to cardiac arrest | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4723. en:risk of sudden death with exertion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of sudden death with exertion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4724. en:risk of thromboembolic stroke --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:risk of thromboembolic stroke | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4725. en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4726. en:sando (607459) is a phenotypic variant of autosomal recessive peo --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sando (607459) is a phenotypic variant of autosomal recessive peo | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4727. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4728. en:scalp hair quality improves during pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:scalp hair quality improves during pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4729. en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4730. en:seasonal variation in severity of skin symptoms reported by some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seasonal variation in severity of skin symptoms reported by some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4731. en:second most common form of usher syndrome type i --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:second most common form of usher syndrome type i | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4732. en:secondary features include arterial hypertension and renal involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:secondary features include arterial hypertension and renal involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4733. en:secondary hemorrhage --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:secondary hemorrhage | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4734. en:secondary prevention, avoid smoking, alcohol, and oxidants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:secondary prevention, avoid smoking, alcohol, and oxidants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4735. en:secondary tumors develop within the skin lesions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:secondary tumors develop within the skin lesions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4736. en:secretory diarrhea begins prenatally --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:secretory diarrhea begins prenatally | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4737. en:see (277600) for a phenotypically similar autosomal recessive form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see (277600) for a phenotypically similar autosomal recessive form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4738. en:see (608328) for a phenotypically similar autosomal dominant form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see (608328) for a phenotypically similar autosomal dominant form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4739. en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4740. en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4741. en:see 177850 for description of heterozygous phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see 177850 for description of heterozygous phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4742. en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4743. en:see 255160 for an autosomal recessive form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see 255160 for an autosomal recessive form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4744. en:see 607731 for an autosomal recessive form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see 607731 for an autosomal recessive form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4745. en:see 609888 for a discussion on leprosy susceptibility --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see 609888 for a discussion on leprosy susceptibility | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4746. en:see also a childhood-onset form (114100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also a childhood-onset form (114100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4747. en:see also adult-onset stiff person syndrome (184850) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also adult-onset stiff person syndrome (184850) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4748. en:see also an adult-onset form (213600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also an adult-onset form (213600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4749. en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4750. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4751. en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4752. en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4753. en:see also autosomal dominant form (128230) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant form (128230) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4754. en:see also autosomal dominant form (160800), which is less common and less severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant form (160800), which is less common and less severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4755. en:see also autosomal dominant form (176860) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant form (176860) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4756. en:see also autosomal dominant giant axonal neuropathy (610100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant giant axonal neuropathy (610100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4757. en:see also autosomal dominant hypophosphatemic rickets (193100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant hypophosphatemic rickets (193100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4758. en:see also autosomal dominant lutheran-null phenotype (111150) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant lutheran-null phenotype (111150) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4759. en:see also autosomal dominant peoa1 (157640) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant peoa1 (157640) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4760. en:see also autosomal dominant robinow syndrome (180700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant robinow syndrome (180700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4761. en:see also autosomal dominant sick sinus syndrome (163800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal dominant sick sinus syndrome (163800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4762. en:see also autosomal form, 146450, and another x-linked form, 300633 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal form, 146450, and another x-linked form, 300633 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4763. en:see also autosomal form, 146450, and another x-linked form, 300758 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal form, 146450, and another x-linked form, 300758 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4764. en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4765. en:see also autosomal recessive familial mediterranean fever (fmf, 249100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4766. en:see also autosomal recessive form (255700), which is more common and more severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal recessive form (255700), which is more common and more severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4767. en:see also autosomal recessive form (612304) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal recessive form (612304) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4768. en:see also autosomal recessive peob (258450) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal recessive peob (258450) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4769. en:see also autosomal recessive robinow syndrome (268310) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal recessive robinow syndrome (268310) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4770. en:see also autosomal recessive sick sinus syndrome (sss1, 608567) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4771. en:see also benign familial infantile convulsions (bfic1, 601764) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also benign familial infantile convulsions (bfic1, 601764) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4772. en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4773. en:see also benign neonatal epilepsy (ebn1, 121200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also benign neonatal epilepsy (ebn1, 121200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4774. en:see also cblc (277400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also cblc (277400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4775. en:see also cbld (277410) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also cbld (277410) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4776. en:see also chromosome 2q32-q33 deletion syndrome (612313) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also chromosome 2q32-q33 deletion syndrome (612313) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4777. en:see also cmtx1 (302800) and cmt3x (302802) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also cmtx1 (302800) and cmt3x (302802) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4778. en:see also cmtx1 (302800) and cmtx2 (302801) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also cmtx1 (302800) and cmtx2 (302801) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4779. en:see also congenital stiff person syndrome (149400) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also congenital stiff person syndrome (149400) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4780. en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4781. en:see also da2b (601680), which is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also da2b (601680), which is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4782. en:see also dent disease 2 (300555) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also dent disease 2 (300555) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4783. en:see also distal hmn2a (158590) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also distal hmn2a (158590) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4784. en:see also dominant deb (131750), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4785. en:see also dominant deb (131750), an allelic disorder with a similar phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4786. en:see also dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also dyggve-melchior-clausen disease (223800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4787. en:see also dyssegmental dysplasia, silverman-handmaker type (224410) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4788. en:see also ecyt2 (263400) and ecyt3 (609820) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also ecyt2 (263400) and ecyt3 (609820) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4789. en:see also erythrocytosis 1 (ecyt1, 133100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also erythrocytosis 1 (ecyt1, 133100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4790. en:see also facial hemihypertrophy (133900) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also facial hemihypertrophy (133900) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4791. en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4792. en:see also familial developmental dysphasia (600117) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also familial developmental dysphasia (600117) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4793. en:see also febrile seizures (feb1, 121210) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also febrile seizures (feb1, 121210) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4794. en:see also french-canadian type of leigh syndrome (220111) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also french-canadian type of leigh syndrome (220111) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4795. en:see also gaucher disease type iii (231000), which is much less severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also gaucher disease type iii (231000), which is much less severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4796. en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4797. en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4798. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4799. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4800. en:see also hmn2b (608634) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also hmn2b (608634) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4801. en:see also infantile (600649) and late-onset (255110) cpt ii deficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4802. en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4803. en:see also junctional eb with pyloric atresia (226730) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also junctional eb with pyloric atresia (226730) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4804. en:see also later childhood-onset form (300718) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also later childhood-onset form (300718) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4805. en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4806. en:see also lethal neonatal (608836) and adult forms (255110) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also lethal neonatal (608836) and adult forms (255110) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4807. en:see also mmab (251110) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also mmab (251110) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4808. en:see also more severe phenotype peeling skin syndrome (270300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also more severe phenotype peeling skin syndrome (270300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4809. en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4810. en:see also oca1a (203100) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also oca1a (203100) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4811. en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4812. en:see also optic atrophy 1 (165500), an allelic disorder without deafness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4813. en:see also optic atrophy with deafness (125250), an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also optic atrophy with deafness (125250), an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4814. en:see also pachyonychia congenita, type 3 (pc1, 167200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pachyonychia congenita, type 3 (pc1, 167200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4815. en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4816. en:see also peeling skin syndrome, acral type (609796) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also peeling skin syndrome, acral type (609796) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4817. en:see also perinatal lethal variant (608013), which is more severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also perinatal lethal variant (608013), which is more severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4818. en:see also pfm3 on chromosome 4q21-q23 (609566) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pfm3 on chromosome 4q21-q23 (609566) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4819. en:see also pgl1 (168000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pgl1 (168000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4820. en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4821. en:see also pseudohypoparathyroidism type ia (103580) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pseudohypoparathyroidism type ia (103580) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4822. en:see also pseudohypoparathyroidism type ia (php1a, 103580) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4823. en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4824. en:see also pseudopseudohypoparathyroidism (612463) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also pseudopseudohypoparathyroidism (612463) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4825. en:see also recessive deb (226600), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4826. en:see also severe, early-onset form (300717) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also severe, early-onset form (300717) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4827. en:see also simplex eb with pyloric atresia (612138) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also simplex eb with pyloric atresia (612138) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4828. en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4829. en:see also the autosomal recessive form (243000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also the autosomal recessive form (243000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4830. en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4831. en:see also the lethal neonatal (608836) and infantile (600649) forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also the lethal neonatal (608836) and infantile (600649) forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4832. en:see also the non-herlitz type of jeb (226650), a less severe disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also the non-herlitz type of jeb (226650), a less severe disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4833. en:see also the x-linked form (300291) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also the x-linked form (300291) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4834. en:see also two x-linked forms 300633 and 300758 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also two x-linked forms 300633 and 300758 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4835. en:see also x-linked (310400) and autosomal dominant (160150) forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also x-linked (310400) and autosomal dominant (160150) forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4836. en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4837. en:see also x-linked dominant form (300652) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also x-linked dominant form (300652) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4838. en:see also x-linked edmd (310300) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also x-linked edmd (310300) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4839. en:see also x-linked leigh syndrome (312170) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see also x-linked leigh syndrome (312170) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4840. 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:one patient reported (last curated november 2012)
    n1=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4841. en:see cmt4a (214400) for autosomal recessive demyelinating forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see cmt4a (214400) for autosomal recessive demyelinating forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4842. en:see ebn1 (121200) for an autosomal dominant form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see ebn1 (121200) for an autosomal dominant form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4843. en:see entry 104300 for general information on alzheimer disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see entry 104300 for general information on alzheimer disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4844. en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4845. en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4846. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4847. en:see recessive form optb4 (611490) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see recessive form optb4 (611490) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4848. en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4849. en:see the more common methemoglobinemia types i and ii (250800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:see the more common methemoglobinemia types i and ii (250800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4850. en:seen more frequently in infants of diabetic mothers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seen more frequently in infants of diabetic mothers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4851. en:segmental distribution often affecting 1 limb --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:segmental distribution often affecting 1 limb | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4852. en:seizure frequency decreases during early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizure frequency decreases during early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4853. en:seizure onset after 3 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizure onset after 3 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4854. en:seizure onset at a mean of 14 months (range 6 to 36 months) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizure onset at a mean of 14 months (range 6 to 36 months) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4855. en:seizure onset between 3 and 11 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizure onset between 3 and 11 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4856. en:seizure onset in first months or years of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizure onset in first months or years of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4857. en:seizure severity and frequency tend to improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizure severity and frequency tend to improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4858. en:seizures and cognitive involvement are variable findings --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures and cognitive involvement are variable findings | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4859. en:seizures and dystonia peak during childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures and dystonia peak during childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4860. en:seizures are easily controlled by medications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are easily controlled by medications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4861. en:seizures are fever-sensitive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are fever-sensitive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4862. en:seizures are followed by drowsiness in most cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are followed by drowsiness in most cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4863. en:seizures are often refractory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are often refractory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4864. en:seizures are poorly responsive to treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are poorly responsive to treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4865. en:seizures are provoked by immersion in hot or warm water --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are provoked by immersion in hot or warm water | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4866. en:seizures are refractory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are refractory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4867. en:seizures are refractory to medication --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are refractory to medication | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4868. en:seizures are refractory to treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are refractory to treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4869. en:seizures are responsive to pyridoxine treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are responsive to pyridoxine treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4870. en:seizures are sensitive to hyperventilation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are sensitive to hyperventilation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4871. en:seizures are usually intractable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are usually intractable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4872. en:seizures are usually refractory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are usually refractory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4873. en:seizures are usually refractory at first --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures are usually refractory at first | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4874. en:seizures become nearly continuous --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures become nearly continuous | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4875. en:seizures easily controlled by medications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures easily controlled by medications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4876. en:seizures last about 30 seconds to 3 minutes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures last about 30 seconds to 3 minutes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4877. en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4878. en:seizures may be refractory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may be refractory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4879. en:seizures may be refractory to treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may be refractory to treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4880. en:seizures may be triggered by infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may be triggered by infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4881. en:seizures may improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4882. en:seizures may occur upon awakening or at any time during the day --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may occur upon awakening or at any time during the day | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4883. en:seizures may occur with illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may occur with illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4884. en:seizures may persist into adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may persist into adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4885. en:seizures may remit in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may remit in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4886. en:seizures may remit later in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may remit later in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4887. en:seizures may remit with age (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures may remit with age (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4888. en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4889. en:seizures occur upon awakening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures occur upon awakening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4890. en:seizures precipitated by fatigue or alcohol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures precipitated by fatigue or alcohol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4891. en:seizures recur in 33% of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures recur in 33% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4892. en:seizures remit by age 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures remit by age 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4893. en:seizures remit in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures remit in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4894. en:seizures remit in later childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures remit in later childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4895. en:seizures resolve by 4 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures resolve by 4 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4896. en:seizures tend to become more focal with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures tend to become more focal with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4897. en:seizures tend to occur upon awakening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures tend to occur upon awakening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4898. en:seizures tend to remit later in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures tend to remit later in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4899. en:seizures usually occur in the first months of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures usually occur in the first months of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4900. en:seizures usually remit in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures usually remit in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4901. en:seizures usually remit spontaneously by 12 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures usually remit spontaneously by 12 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4902. en:seizures, recurrent, refractory --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seizures, recurrent, refractory | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4903. en:sensorineural hearing loss may be presenting feature --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sensorineural hearing loss may be presenting feature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4904. en:sensory loss is rapidly progressive and severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sensory loss is rapidly progressive and severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4905. en:serum triglycerides decrease with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:serum triglycerides decrease with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4906. 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:one patient reported (last curated november 2012)
    n1=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4907. 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:one patient reported (last curated november 2012)
    n1=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4908. 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:one patient reported (last curated november 2012)
    n1=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4909. 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:one patient reported (last curated november 2012)
    n1=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4910. 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:one patient reported (last curated november 2012)
    n1=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4911. 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:one patient reported (last curated november 2012)
    n1=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4912. 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:one patient reported (last curated november 2012)
    n1=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4913. 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:one patient reported (last curated november 2012)
    n1=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4914. 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:one patient reported (last curated november 2012)
    n1=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4915. 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:one patient reported (last curated november 2012)
    n1=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4916. 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:one patient reported (last curated november 2012)
    n1=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4917. 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:one patient reported (last curated november 2012)
    n1=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4918. 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:one patient reported (last curated november 2012)
    n1=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4919. 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:one patient reported (last curated november 2012)
    n1=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4920. 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:one patient reported (last curated november 2012)
    n1=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4921. 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:one patient reported (last curated november 2012)
    n1=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4922. 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:one patient reported (last curated november 2012)
    n1=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4923. 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:one patient reported (last curated november 2012)
    n1=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4924. 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:one patient reported (last curated november 2012)
    n1=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4925. 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:one patient reported (last curated november 2012)
    n1=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4926. 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:one patient reported (last curated november 2012)
    n1=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4927. 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:one patient reported (last curated november 2012)
    n1=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4928. 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:one patient reported (last curated november 2012)
    n1=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4929. 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:one patient reported (last curated november 2012)
    n1=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4930. 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:one patient reported (last curated november 2012)
    n1=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4931. 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:one patient reported (last curated november 2012)
    n1=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4932. 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:one patient reported (last curated november 2012)
    n1=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4933. 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:one patient reported (last curated november 2012)
    n1=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4934. 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:one patient reported (last curated november 2012)
    n1=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4935. 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:one patient reported (last curated november 2012)
    n1=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4936. 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:one patient reported (last curated november 2012)
    n1=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4937. 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:one patient reported (last curated november 2012)
    n1=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4938. 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:one patient reported (last curated november 2012)
    n1=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4939. 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:one patient reported (last curated november 2012)
    n1=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4940. 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:one patient reported (last curated november 2012)
    n1=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4941. 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:one patient reported (last curated november 2012)
    n1=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4942. 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:one patient reported (last curated november 2012)
    n1=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4943. 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:one patient reported (last curated november 2012)
    n1=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4944. 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:one patient reported (last curated november 2012)
    n1=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4945. 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:one patient reported (last curated november 2012)
    n1=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4946. 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:one patient reported (last curated november 2012)
    n1=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4947. 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:one patient reported (last curated november 2012)
    n1=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4948. 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:one patient reported (last curated november 2012)
    n1=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4949. 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:one patient reported (last curated november 2012)
    n1=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4950. 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:one patient reported (last curated november 2012)
    n1=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4951. 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:one patient reported (last curated november 2012)
    n1=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4952. 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:one patient reported (last curated november 2012)
    n1=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4953. 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:one patient reported (last curated november 2012)
    n1=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4954. 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:one patient reported (last curated november 2012)
    n1=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4955. 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:one patient reported (last curated november 2012)
    n1=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4956. 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:one patient reported (last curated november 2012)
    n1=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4957. 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:one patient reported (last curated november 2012)
    n1=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4958. 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:one patient reported (last curated november 2012)
    n1=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4959. 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:one patient reported (last curated november 2012)
    n1=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4960. 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:one patient reported (last curated november 2012)
    n1=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4961. 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:one patient reported (last curated november 2012)
    n1=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4962. 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:one patient reported (last curated november 2012)
    n1=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4963. 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:one patient reported (last curated november 2012)
    n1=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4964. 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:one patient reported (last curated november 2012)
    n1=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4965. 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:one patient reported (last curated november 2012)
    n1=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4966. 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:one patient reported (last curated november 2012)
    n1=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4967. 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:one patient reported (last curated november 2012)
    n1=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4968. 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:one patient reported (last curated november 2012)
    n1=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4969. 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:one patient reported (last curated november 2012)
    n1=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4970. 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:one patient reported (last curated november 2012)
    n1=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4971. 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:one patient reported (last curated november 2012)
    n1=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4972. 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:one patient reported (last curated november 2012)
    n1=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4973. 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:one patient reported (last curated november 2012)
    n1=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4974. 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:one patient reported (last curated november 2012)
    n1=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4975. 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:one patient reported (last curated november 2012)
    n1=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4976. 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:one patient reported (last curated november 2012)
    n1=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4977. 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:one patient reported (last curated november 2012)
    n1=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4978. 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:one patient reported (last curated november 2012)
    n1=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4979. 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:one patient reported (last curated november 2012)
    n1=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4980. 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:one patient reported (last curated november 2012)
    n1=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4981. 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:one patient reported (last curated november 2012)
    n1=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4982. 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:one patient reported (last curated november 2012)
    n1=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4983. 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:one patient reported (last curated november 2012)
    n1=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4984. 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:one patient reported (last curated november 2012)
    n1=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4985. 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:one patient reported (last curated november 2012)
    n1=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4986. en:seven patients from 4 families in israel have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seven patients from 4 families in israel have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4987. en:seven patients reported (as of march 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seven patients reported (as of march 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4988. en:seventy percent of cases are stillborn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seventy percent of cases are stillborn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4989. en:seventy percent of cases have associated anomalies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:seventy percent of cases have associated anomalies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4990. en:several forms of autosomal recessive spastic paraplegia (see 270800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:several forms of autosomal recessive spastic paraplegia (see 270800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4991. en:severe ambulatory restriction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe ambulatory restriction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4992. en:severe clinical course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe clinical course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4993. en:severe course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4994. en:severe disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4995. en:severe epilepsy may lead to early death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe epilepsy may lead to early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4996. en:severe form with onset at 3 to 4 months of age and severe developmental delay --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe form with onset at 3 to 4 months of age and severe developmental delay | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4997. en:severe hearing loss by age 50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe hearing loss by age 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4998. en:severe heat intolerance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe heat intolerance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  4999. en:severe hypertension develops in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe hypertension develops in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5000. en:severe infantile cases usually die by 6 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe infantile cases usually die by 6 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5001. en:severe infantile form presents before 6 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe infantile form presents before 6 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5002. en:severe infections in untreated patients with neutropenia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe infections in untreated patients with neutropenia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5003. en:severe involvement of legs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe involvement of legs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5004. en:severe neurodegenerative course resulting in a comatose state or death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe neurodegenerative course resulting in a comatose state or death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5005. en:severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5006. en:severe phenotype onset - neonate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe phenotype onset - neonate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5007. en:severe volume depletion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe volume depletion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5008. en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5009. en:severely affected individuals may carry 2 mutated alleles --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severely affected individuals may carry 2 mutated alleles | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5010. en:severity of clinical phenotype varies both within and between kindreds --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severity of clinical phenotype varies both within and between kindreds | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5011. en:severity of hematologic disorder decreases with advancing age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severity of hematologic disorder decreases with advancing age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5012. en:severity of phenotype is not related to residual enzyme activity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severity of phenotype is not related to residual enzyme activity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5013. en:severity of phenotype may vary with x-inactivation patterns and/or mutation type --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5014. en:severity of skin symptoms may vary within families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:severity of skin symptoms may vary within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5015. en:sex ratio - 2 females to 1 male --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sex ratio - 2 females to 1 male | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5016. en:sex ratio - 2.3 males-to-1 female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sex ratio - 2.3 males-to-1 female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5017. en:sex ratio of 4-4.5 males to 1 female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sex ratio of 4-4.5 males to 1 female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5018. en:sexual infantilism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sexual infantilism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5019. en:shields classification - --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:shields classification - | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5020. en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5021. en:short limbs become more apparent during childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:short limbs become more apparent during childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5022. en:short stepped shuffling gait --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:short stepped shuffling gait | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5023. en:short survival (less than 10 years after onset) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:short survival (less than 10 years after onset) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5024. en:short umbilical cord --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:short umbilical cord | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5025. en:sib a developed symptoms after routine mmr vaccination --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sib a developed symptoms after routine mmr vaccination | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5026. en:sib b did not receive mmr vaccination and was asymptomatic in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5027. en:significant clinical overlap with sotos syndrome (117550) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:significant clinical overlap with sotos syndrome (117550) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5028. en:significant number of patients are stillborn or die in neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:significant number of patients are stillborn or die in neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5029. en:significant phenotypic variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:significant phenotypic variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5030. en:signs and symptoms depend on tumor location and activity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:signs and symptoms depend on tumor location and activity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5031. en:similar clinical phenotype to edsiii (130020) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:similar clinical phenotype to edsiii (130020) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5032. en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5033. en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5034. en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5035. en:similar to infantile neuroaxonal dystrophy (inad, 256600) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5036. en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5037. en:simple febrile seizures usually remit by age 6 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:simple febrile seizures usually remit by age 6 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5038. en:single lesions in sporadic cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:single lesions in sporadic cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5039. en:single mitochondrial dna deletions are found in sporadic kss patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:single mitochondrial dna deletions are found in sporadic kss patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5040. en:single umbilical artery --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:single umbilical artery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5041. en:sister of affected male siblings had mild learning disabilities and obesity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sister of affected male siblings had mild learning disabilities and obesity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5042. en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5043. en:six genetically confirmed patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six genetically confirmed patients have been reported (as of december 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5044. en:six patients from 1 saudi arabian family have been reported (last curated december 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5045. en:six patients from 4 families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six patients from 4 families have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5046. en:six patients have been reported (5/18/2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six patients have been reported (5/18/2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5047. en:six patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six patients have been reported (as of july 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5048. en:six patients have been reported (as of october 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six patients have been reported (as of october 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5049. en:six patients reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:six patients reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5050. en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5051. en:skeletal abnormalities are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skeletal abnormalities are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5052. en:skeletal and endocrine features have not been fully characterized in all of the patients reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5053. en:skeletal and facial features are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skeletal and facial features are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5054. en:skeletal features are variably present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skeletal features are variably present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5055. en:skewed x-inactivation in carriers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skewed x-inactivation in carriers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5056. en:skin abnormalities can be present at birth or appear later in infancy or childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin abnormalities can be present at birth or appear later in infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5057. en:skin abnormalities tend to decrease with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin abnormalities tend to decrease with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5058. en:skin and hair abnormalities apparent at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin and hair abnormalities apparent at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5059. en:skin appears normal at birth, with development of generalized ichthyosis in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5060. en:skin blistering and photosensitivity improve in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin blistering and photosensitivity improve in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5061. en:skin changes are progressive in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin changes are progressive in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5062. en:skin changes have onset in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin changes have onset in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5063. en:skin erythroderma may resolve early, leaving atrophic lesions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin erythroderma may resolve early, leaving atrophic lesions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5064. en:skin lesion appear shortly after birth and tend to disappear in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5065. en:skin lesions are fully penetrant by second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions are fully penetrant by second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5066. en:skin lesions are primarily trauma-induced but occasionally appear spontaneously --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5067. en:skin lesions exacerbated by heat, exercise (sweating), and sunlight --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5068. en:skin lesions improve in the summer --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions improve in the summer | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5069. en:skin lesions manifest in the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions manifest in the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5070. en:skin lesions on back, face, nape of neck, and waist tend to be mild --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions on back, face, nape of neck, and waist tend to be mild | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5071. en:skin lesions resolve between 6 months and 2 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions resolve between 6 months and 2 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5072. en:skin lesions tend to occur on distal extremities or at elbows and knees --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions tend to occur on distal extremities or at elbows and knees | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5073. en:skin lesions worsen with heat or sun exposure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin lesions worsen with heat or sun exposure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5074. en:skin manifestation less frequently observed in cold climates --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin manifestation less frequently observed in cold climates | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5075. 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:one patient reported (last curated november 2012)
    n1=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5076. en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5077. en:skin manifestations may not be present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin manifestations may not be present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5078. en:skin neoplasia may appear later in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin neoplasia may appear later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5079. en:skin peeling exacerbated by heat, friction, and humidity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin peeling exacerbated by heat, friction, and humidity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5080. en:skin wrinkling improves with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:skin wrinkling improves with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5081. en:slc25a4 mutations account for approximately 4% of all peo cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slc25a4 mutations account for approximately 4% of all peo cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5082. en:sleep disturbance or sleep apnea (obstructive, central, or mixed) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5083. en:sleep terrors usually remit during adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sleep terrors usually remit during adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5084. en:sleepwalking triggered by alcohol, sleep deprivation, stress --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sleepwalking triggered by alcohol, sleep deprivation, stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5085. en:sleepwalking usually remits in adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sleepwalking usually remits in adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5086. en:slight increased risk for malignancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slight increased risk for malignancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5087. en:slight male predominance (3:2) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slight male predominance (3:2) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5088. en:slightly increased female:male ratio (1.4:1 to 2:1) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slightly increased female:male ratio (1.4:1 to 2:1) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5089. en:slow course of functional deterioration compared to severity of mri findings --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slow course of functional deterioration compared to severity of mri findings | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5090. en:slow or nonprogressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slow or nonprogressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5091. en:slow progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slow progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5092. en:slow progression without marked disability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slow progression without marked disability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5093. en:slow, progressive growth, then stable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slow, progressive growth, then stable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5094. en:slowly or non-progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slowly or non-progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5095. en:slowly or nonprogressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slowly or nonprogressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5096. en:slowly progressive disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slowly progressive disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5097. en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5098. en:slowly progressive or nonprogressive course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:slowly progressive or nonprogressive course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5099. en:small placenta --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:small placenta | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5100. en:smaller repeat lengths in younger generations (reverse anticipation) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:smaller repeat lengths in younger generations (reverse anticipation) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5101. en:solitary disease is more common in males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:solitary disease is more common in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5102. en:somatic mosaicism has been observed in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:somatic mosaicism has been observed in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5103. en:somatic mutations occur in adrenal tumor tissue (601639.0001) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5104. en:somatic or germline mosaicism may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:somatic or germline mosaicism may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5105. en:some affected family members are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some affected family members are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5106. en:some affected individuals have normal subsequent development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some affected individuals have normal subsequent development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5107. en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5108. en:some carrier females have episodes of significant hyperammonemia in infancy or childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5109. en:some carrier females have mild features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some carrier females have mild features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5110. en:some carrier females may manifest mild symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some carrier females may manifest mild symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5111. en:some familial occurrence, most de novo aberrations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some familial occurrence, most de novo aberrations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5112. en:some families have axonal cmt (cmt2m) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some families have axonal cmt (cmt2m) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5113. en:some features are variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features are variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5114. en:some features are variable, even within families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features are variable, even within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5115. en:some features are variably expressed --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features are variably expressed | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5116. en:some features are variably present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features are variably present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5117. en:some features may be progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features may be progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5118. en:some features may be variable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features may be variable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5119. en:some features not found in all patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features not found in all patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5120. en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5121. en:some female carriers are more mildly affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some female carriers are more mildly affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5122. en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5123. en:some female patients can conceive after administration of gonadotropins --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some female patients can conceive after administration of gonadotropins | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5124. en:some females are affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some females are affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5125. en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5126. en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5127. en:some heterozygotes may have increased urinary excretion of cystine and may develop stones --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5128. en:some heterozygous carriers exhibit accelerated age-related hearing loss --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some heterozygous carriers exhibit accelerated age-related hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5129. en:some heterozygous carriers may have mild manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some heterozygous carriers may have mild manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5130. en:some heterozygous cpt2 mutation carriers may be symptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some heterozygous cpt2 mutation carriers may be symptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5131. en:some individuals may be clinically asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some individuals may be clinically asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5132. en:some laboratory abnormalities may fluctuate or improve with time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some laboratory abnormalities may fluctuate or improve with time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5133. en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5134. en:some more severely affected patients may die in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some more severely affected patients may die in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5135. en:some mutation carriers have mild features of frontonasal dysplasia (613451) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5136. 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:one patient reported (last curated november 2012)
    n1=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5137. en:some patients acquire late ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients acquire late ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5138. en:some patients are asymptomatic and detected only by newborn screening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients are asymptomatic and detected only by newborn screening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5139. en:some patients are asymptomatic and diagnosed incidentally --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients are asymptomatic and diagnosed incidentally | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5140. en:some patients are clinically unaffected. --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients are clinically unaffected. | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5141. en:some patients become bedridden --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients become bedridden | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5142. en:some patients become wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5143. en:some patients become wheelchair-bound in second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients become wheelchair-bound in second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5144. 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:one patient reported (last curated november 2012)
    n1=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5145. en:some patients can attend special school --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients can attend special school | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5146. en:some patients can be treated with large doses of vitamin d and calcium --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients can be treated with large doses of vitamin d and calcium | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5147. en:some patients can hold menial jobs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients can hold menial jobs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5148. en:some patients carry heterozygous mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients carry heterozygous mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5149. en:some patients develop diabetes mellitus as adolescents --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients develop diabetes mellitus as adolescents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5150. en:some patients develop ophthalmoplegia in middle age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients develop ophthalmoplegia in middle age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5151. en:some patients do not achieve independent ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not achieve independent ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5152. en:some patients do not develop renal failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not develop renal failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5153. en:some patients do not develop stroke --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not develop stroke | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5154. en:some patients do not have bone disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not have bone disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5155. en:some patients do not have dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not have dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5156. en:some patients do not have thin corpus callosum --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not have thin corpus callosum | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5157. en:some patients do not manifest renal disease in the first decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not manifest renal disease in the first decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5158. en:some patients do not reach end-stage renal failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not reach end-stage renal failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5159. en:some patients do not show neurologic abnormalities or dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients do not show neurologic abnormalities or dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5160. en:some patients exhibit features of more than 1 type of cardiomyopathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients exhibit features of more than 1 type of cardiomyopathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5161. en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5162. en:some patients experience later reversal of hypogonadotropic hypogonadism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients experience later reversal of hypogonadotropic hypogonadism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5163. en:some patients experience respiratory infections in association with episodes of jaundice in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5164. en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5165. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5166. en:some patients have a crouzon-like appearance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have a crouzon-like appearance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5167. en:some patients have a milder nonprogressive phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have a milder nonprogressive phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5168. en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5169. en:some patients have a secreted but biologically inactive mutant leptin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have a secreted but biologically inactive mutant leptin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5170. en:some patients have a severe phenotype with neurologic manifestations beginning at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5171. en:some patients have additional neurologic involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have additional neurologic involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5172. en:some patients have an attenuated phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have an attenuated phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5173. en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5174. en:some patients have asymptomatic hypocalcemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have asymptomatic hypocalcemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5175. en:some patients have cessation of seizures at a mean of 12 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have cessation of seizures at a mean of 12 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5176. en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5177. en:some patients have isolated cfeom --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have isolated cfeom | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5178. en:some patients have juvenile-onset myoclonic epilepsy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have juvenile-onset myoclonic epilepsy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5179. en:some patients have later onset and more variable phenotype (mngie) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have later onset and more variable phenotype (mngie) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5180. en:some patients have later onset of the disorder as young adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have later onset of the disorder as young adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5181. en:some patients have lethal fetal akinesia with death in utero --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have lethal fetal akinesia with death in utero | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5182. en:some patients have milder persistent blistering --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have milder persistent blistering | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5183. en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5184. en:some patients have no clinical symptoms and are detected by routine newborn screening --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have no clinical symptoms and are detected by routine newborn screening | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5185. en:some patients have no manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have no manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5186. en:some patients have no neurologic abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have no neurologic abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5187. en:some patients have no or mild manifestations and normal development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have no or mild manifestations and normal development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5188. en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5189. en:some patients have only ocular involvement or only oral involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have only ocular involvement or only oral involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5190. en:some patients have only plantar surface involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have only plantar surface involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5191. 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:one patient reported (last curated november 2012)
    n1=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5192. en:some patients have persistence of seizures to adulthood, but then show remission --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have persistence of seizures to adulthood, but then show remission | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5193. en:some patients have resolution of symptoms in first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have resolution of symptoms in first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5194. en:some patients have subclinical exocrine pancreatic deficiency --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients have subclinical exocrine pancreatic deficiency | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5195. en:some patients may be asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may be asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5196. en:some patients may be asymptomatic and have only short telomeres --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may be asymptomatic and have only short telomeres | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5197. en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5198. en:some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may be clinically asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5199. en:some patients may become bedridden 10 to 20 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may become bedridden 10 to 20 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5200. en:some patients may become wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5201. en:some patients may benefit from coenzyme q10 treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may benefit from coenzyme q10 treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5202. en:some patients may develop concurrent failure to thrive and dyslipidemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may develop concurrent failure to thrive and dyslipidemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5203. en:some patients may develop interictal progressive ataxia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may develop interictal progressive ataxia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5204. en:some patients may die from cardiomyopathy in the first or second decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may die from cardiomyopathy in the first or second decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5205. 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:one patient reported (last curated november 2012)
    n1=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5206. en:some patients may have a milder phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have a milder phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5207. en:some patients may have a more protracted disorder with neurodegeneration --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have a more protracted disorder with neurodegeneration | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5208. en:some patients may have isolated cardiac involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have isolated cardiac involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5209. en:some patients may have isolated myokymia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have isolated myokymia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5210. en:some patients may have normal brain imaging --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have normal brain imaging | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5211. en:some patients may have normal development until onset of seizures in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have normal development until onset of seizures in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5212. en:some patients may have normal psychomotor development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have normal psychomotor development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5213. en:some patients may have residual muscle weakness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may have residual muscle weakness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5214. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5215. en:some patients may live to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may live to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5216. en:some patients may lose independent ambulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may lose independent ambulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5217. en:some patients may need surgery or renal transplant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may need surgery or renal transplant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5218. en:some patients may not achieve walking --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may not achieve walking | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5219. en:some patients may not have recurrent infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may not have recurrent infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5220. en:some patients may not present until adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may not present until adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5221. en:some patients may present with adult-onset small fiber neuropathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may present with adult-onset small fiber neuropathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5222. en:some patients may present with myopathic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may present with myopathic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5223. en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5224. en:some patients may respond to thiamine treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may respond to thiamine treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5225. en:some patients may show a favorable response to oral coenzyme q10 supplementation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may show a favorable response to oral coenzyme q10 supplementation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5226. en:some patients may show deterioration with infections --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may show deterioration with infections | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5227. en:some patients may show mild decrease in head circumference over time --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may show mild decrease in head circumference over time | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5228. en:some patients may show neurologic improvement late in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may show neurologic improvement late in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5229. en:some patients may show response to immunosuppressive agents --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients may show response to immunosuppressive agents | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5230. en:some patients never achieve sitting --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients never achieve sitting | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5231. en:some patients never achieve walking or running --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients never achieve walking or running | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5232. en:some patients never gain ambulation or become wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients never gain ambulation or become wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5233. en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5234. en:some patients present with spasticity, whereas others present with cerebellar ataxia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients present with spasticity, whereas others present with cerebellar ataxia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5235. en:some patients report cyclical changes in severity of symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients report cyclical changes in severity of symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5236. en:some patients report increased tolerance to heat --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients report increased tolerance to heat | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5237. en:some patients report seasonal variation in symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients report seasonal variation in symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5238. en:some patients require cardiac transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients require cardiac transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5239. en:some patients require insulin for treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients require insulin for treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5240. en:some patients respond to acetazolamide --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients respond to acetazolamide | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5241. en:some patients show a favorable response to sulfonylurea treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show a favorable response to sulfonylurea treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5242. en:some patients show delayed development from birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show delayed development from birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5243. en:some patients show improvement during summer or with fever --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show improvement during summer or with fever | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5244. en:some patients show improvement in muscle power in the teenage years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show improvement in muscle power in the teenage years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5245. en:some patients show infantile onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show infantile onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5246. en:some patients show no bleeding abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show no bleeding abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5247. en:some patients show normal development until onset of disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show normal development until onset of disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5248. en:some patients show onset in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show onset in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5249. en:some patients show onset later in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show onset later in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5250. en:some patients show rapid disease progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show rapid disease progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5251. en:some patients show significant clinical improvement with riboflavin supplementation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients show significant clinical improvement with riboflavin supplementation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5252. en:some patients survive infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients survive infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5253. en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5254. en:some patients with advanced loss of vision have normal eog --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients with advanced loss of vision have normal eog | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5255. en:some patients with heterozygous mutations may be symptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients with heterozygous mutations may be symptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5256. en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5257. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5258. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5259. en:some pedigrees are consistent with autosomal dominant inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some pedigrees are consistent with autosomal dominant inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5260. en:some people with a cnnm2 mutation are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some people with a cnnm2 mutation are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5261. en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5262. en:some phenotypic overlap with rett syndrome (312750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some phenotypic overlap with rett syndrome (312750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5263. en:some response to l-dopa therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some response to l-dopa therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5264. en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5265. en:sparing of some nails in some individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sparing of some nails in some individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5266. en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5267. en:spasticity is slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spasticity is slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5268. en:spasticity occurs before parkinsonism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spasticity occurs before parkinsonism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5269. en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5270. en:spectrum of laterality defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spectrum of laterality defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5271. en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5272. en:spinal involvement improves with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spinal involvement improves with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5273. en:spinal tumors are necessary for diagnosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spinal tumors are necessary for diagnosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5274. en:splenectomy increases thrombotic risk in these patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:splenectomy increases thrombotic risk in these patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5275. en:spontaneous bleeding is rare --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous bleeding is rare | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5276. en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5277. en:spontaneous improvement or resolution of skin creases in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous improvement or resolution of skin creases in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5278. en:spontaneous resolution by 12 months of age with no recurrence later in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous resolution by 12 months of age with no recurrence later in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5279. en:spontaneous resolution of seizures by 12 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous resolution of seizures by 12 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5280. en:spontaneous resolution usually after 12 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous resolution usually after 12 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5281. en:spontaneous resorption (rare) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous resorption (rare) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5282. en:spontaneous reversal of gnrh deficiency may occur in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous reversal of gnrh deficiency may occur in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5283. en:spontaneous tumor regression may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneous tumor regression may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5284. en:spontaneously resolves by 5 to 6 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spontaneously resolves by 5 to 6 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5285. en:sporadic cases often single lesions versus multiple lesions in familial cases --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sporadic cases often single lesions versus multiple lesions in familial cases | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5286. en:sporadic occurrence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sporadic occurrence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5287. en:sporadic occurrence is associated with advanced paternal age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sporadic occurrence is associated with advanced paternal age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5288. en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5289. en:spots occur in 95% of patients but can be absent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:spots occur in 95% of patients but can be absent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5290. en:stable or slowly progressive course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stable or slowly progressive course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5291. en:stage ii, rapid developmental regression (onset 1-4 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stage ii, rapid developmental regression (onset 1-4 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5292. en:stage iii, pseudostationary period (onset 2-10 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stage iii, pseudostationary period (onset 2-10 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5293. en:stage iv, late motor deterioration (when ambulation ceases) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stage iv, late motor deterioration (when ambulation ceases) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5294. en:static or slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:static or slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5295. en:static, nonprogressive disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:static, nonprogressive disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5296. 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:one patient reported (last curated november 2012)
    n1=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5297. en:stillbirth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stillbirth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5298. en:stillborn or death in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stillborn or death in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5299. en:stillborn or death shortly after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stillborn or death shortly after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5300. en:stillborn or infantile death usual in prenatal form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stillborn or infantile death usual in prenatal form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5301. en:stillborn or lethal in the neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:stillborn or lethal in the neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5302. en:striking intrafamilial variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:striking intrafamilial variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5303. en:subclavian artery supply disruption in embryogenesis has been suggested as etiology --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5304. en:subset of patients have cytochrome c oxidase deficiency (see 220110) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5305. en:subset of patients have french-canadian leigh syndrome (220111) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subset of patients have french-canadian leigh syndrome (220111) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5306. en:subset of patients have leigh syndrome (256000) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subset of patients have leigh syndrome (256000) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5307. en:subtle facial phenotype compared to other types of hpe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subtle facial phenotype compared to other types of hpe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5308. en:subtle personality and behavioral changes are presenting signs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subtle personality and behavioral changes are presenting signs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5309. en:subtype 3a comprises myoclonus and dementia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subtype 3a comprises myoclonus and dementia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5310. en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5311. en:subtype 3c (231005) comprises cardiovascular calcifications --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subtype 3c (231005) comprises cardiovascular calcifications | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5312. en:subtype of migraine with aura --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:subtype of migraine with aura | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5313. en:successful treatment with oral isotretinoin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:successful treatment with oral isotretinoin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5314. en:sudden cardiac death frequent in affected families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden cardiac death frequent in affected families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5315. en:sudden cardiac death in some families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden cardiac death in some families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5316. en:sudden death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5317. en:sudden death due to cardiac arrhythmia may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death due to cardiac arrhythmia may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5318. en:sudden death due to cardiomyopathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death due to cardiomyopathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5319. en:sudden death in affected females occurs in the forties --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death in affected females occurs in the forties | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5320. en:sudden death in affected males occurs in teens --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death in affected males occurs in teens | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5321. en:sudden death may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5322. en:sudden death secondary to impaction of medulla oblongata --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death secondary to impaction of medulla oblongata | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5323. en:sudden death within first days of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden death within first days of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5324. en:sudden infant death may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden infant death may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5325. en:sudden infantile death may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:sudden infantile death may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5326. 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:one patient reported (last curated november 2012)
    n1=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5327. en:surgical intervention is not always curative --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:surgical intervention is not always curative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5328. en:survival 30 to 40 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival 30 to 40 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5329. en:survival greater than one year rare --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival greater than one year rare | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5330. en:survival past infancy is rare --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival past infancy is rare | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5331. en:survival to 10 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival to 10 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5332. en:survival to 20 years in severe form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival to 20 years in severe form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5333. en:survival to 20s-60s in iib --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival to 20s-60s in iib | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5334. en:survival to 5-15 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival to 5-15 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5335. en:survival to advanced age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survival to advanced age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5336. en:surviving infants develop severe nonbullous ichthyosiform erythroderma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5337. en:survivors develop dysautonomia-like symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survivors develop dysautonomia-like symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5338. en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5339. en:survivors may develop renal insufficiency and hepatic dysfunction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:survivors may develop renal insufficiency and hepatic dysfunction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5340. en:susceptibility to infections start in the first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:susceptibility to infections start in the first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5341. en:susceptibility to infections starts in the first week of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:susceptibility to infections starts in the first week of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5342. en:swelling starts to fade by age 30 years and gradually becomes unremarkable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5343. en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5344. en:symptom onset ranges from infancy to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptom onset ranges from infancy to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5345. en:symptomatic female carriers have been described in 1 japanese family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptomatic female carriers have been described in 1 japanese family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5346. en:symptomatic if > 200 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptomatic if > 200 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5347. en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5348. en:symptoms ameliorate with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms ameliorate with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5349. en:symptoms appear in early childhood and are progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms appear in early childhood and are progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5350. en:symptoms are aggravated by febrile illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms are aggravated by febrile illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5351. en:symptoms are not apparent at rest --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms are not apparent at rest | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5352. en:symptoms are not relieved by alcohol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms are not relieved by alcohol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5353. en:symptoms are often responsive to alcohol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms are often responsive to alcohol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5354. en:symptoms are responsive to cobalamin treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms are responsive to cobalamin treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5355. en:symptoms begin focally, later segmental or generalized --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms begin focally, later segmental or generalized | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5356. en:symptoms benefit from sleep --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms benefit from sleep | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5357. en:symptoms can be prevented by strict dietary restriction --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms can be prevented by strict dietary restriction | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5358. en:symptoms develop immediately after birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms develop immediately after birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5359. en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5360. en:symptoms improve during the summer --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms improve during the summer | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5361. en:symptoms improve following sleep --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms improve following sleep | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5362. en:symptoms improve with age, resulting in woolly hair with almost normal hair density --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5363. en:symptoms induced by strenuous exercise --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms induced by strenuous exercise | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5364. en:symptoms may be aggravated by acute illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms may be aggravated by acute illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5365. en:symptoms may be exacerbated by pregnancy or trauma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms may be exacerbated by pregnancy or trauma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5366. en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5367. en:symptoms may be precipitated by infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms may be precipitated by infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5368. en:symptoms may decrease after age 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms may decrease after age 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5369. en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5370. en:symptoms noted at 2-3 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms noted at 2-3 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5371. en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5372. en:symptoms occur only during sleep --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms occur only during sleep | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5373. en:symptoms of zinc deficiency occur only in exclusively breastfed infants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5374. en:symptoms often decrease or remit with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms often decrease or remit with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5375. en:symptoms often improve gradually with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms often improve gradually with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5376. en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5377. en:symptoms precipitated by exercise and excitement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by exercise and excitement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5378. en:symptoms precipitated by stress, exertion, fatigue, alcohol --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by stress, exertion, fatigue, alcohol | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5379. en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5380. en:symptoms precipitated by sudden movement, stress, exertion, fatigue --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5381. en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5382. en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5383. en:symptoms precipitated by sudden movements --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms precipitated by sudden movements | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5384. en:symptoms present as acute metabolic and clinical decompensation associated with infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms present as acute metabolic and clinical decompensation associated with infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5385. en:symptoms progress with worsening myopathy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms progress with worsening myopathy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5386. en:symptoms relieved by ovarian suppression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms relieved by ovarian suppression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5387. en:symptoms relieved by progesterone antagonist (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms relieved by progesterone antagonist (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5388. en:symptoms relieved by serotonin antagonist (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms relieved by serotonin antagonist (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5389. en:symptoms remain focal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms remain focal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5390. en:symptoms resolve over weeks to months with usually no residual symptoms between attacks --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5391. en:symptoms show insidious onset in the late first through third decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms show insidious onset in the late first through third decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5392. en:symptoms tend to improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms tend to improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5393. en:symptoms typically begin in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms typically begin in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5394. en:symptoms usually appear in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms usually appear in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5395. en:symptoms usually induced only by strenuous exercise --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms usually induced only by strenuous exercise | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5396. en:symptoms usually last 30-60 minutes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms usually last 30-60 minutes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5397. en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5398. en:symptoms usually occur in adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms usually occur in adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5399. en:symptoms usually resolve without treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms usually resolve without treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5400. en:symptoms vary according to location of tumor --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms vary according to location of tumor | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5401. en:symptoms vary from asymptomatic patients to patients with metabolic acidosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5402. en:symptoms worsen with fatigue and exercise --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:symptoms worsen with fatigue and exercise | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5403. en:syncope --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:syncope | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5404. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5405. en:systemic amyloid deposition may occur --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:systemic amyloid deposition may occur | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5406. en:systemic granulomatous disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:systemic granulomatous disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5407. en:systemic iron overload due to ineffective erythropoiesis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:systemic iron overload due to ineffective erythropoiesis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5408. en:t-cell lymphopenia is more severe early in life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:t-cell lymphopenia is more severe early in life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5409. en:teeth may undergo post-eruptive changes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:teeth may undergo post-eruptive changes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5410. en:telangiectases persist in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:telangiectases persist in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5411. en:telangiectasia become evident between the second and eighth year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:telangiectasia become evident between the second and eighth year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5412. en:temperature instability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:temperature instability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5413. en:tendency to lighter pigmentation than unaffected relatives --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tendency to lighter pigmentation than unaffected relatives | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5414. en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5415. en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5416. en:the characteristic changes in the spine resolve by adolescence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the characteristic changes in the spine resolve by adolescence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5417. en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5418. en:the frequency is estimated at 1/20,000 to 1/50,000 births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the frequency is estimated at 1/20,000 to 1/50,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5419. en:the lower the s-ado:saicar ratio, the more severe the phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the lower the s-ado:saicar ratio, the more severe the phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5420. en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5421. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5422. en:the most studied group is efe pygmies from ituri forest in northeast zaire --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the most studied group is efe pygmies from ituri forest in northeast zaire | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5423. en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5424. en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5425. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5426. en:therapy-induced dyskinesias --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:therapy-induced dyskinesias | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5427. en:there are several subtypes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:there are several subtypes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5428. en:thiamine supplementation may be beneficial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:thiamine supplementation may be beneficial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5429. en:thin, fine hair described in few individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:thin, fine hair described in few individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5430. en:this patient died at age 2 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:this patient died at age 2 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5431. en:this patient died at age 8 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:this patient died at age 8 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5432. en:this specific disorder has been described in 1 family (ke) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:this specific disorder has been described in 1 family (ke) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5433. en:thoracic abnormalities tend to improve with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:thoracic abnormalities tend to improve with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5434. en:thorax anomaly ameliorates with age (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:thorax anomaly ameliorates with age (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5435. en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5436. en:those with intermediate repeat expansions show reduced penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:those with intermediate repeat expansions show reduced penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5437. en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5438. en:three affected sibs have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three affected sibs have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5439. en:three amish patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three amish patients have been reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5440. en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5441. en:three families described (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families described (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5442. en:three families have been reported (as of 28 june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (as of 28 june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5443. en:three families have been reported (as of december 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (as of december 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5444. en:three families have been reported (as of september 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (as of september 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5445. en:three families have been reported (last curated april 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (last curated april 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5446. en:three families have been reported (last curated august 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (last curated august 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5447. en:three families have been reported (last curated july 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (last curated july 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5448. en:three families have been reported (last curated november 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (last curated november 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5449. en:three families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families have been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5450. en:three families of ashkenazi jewish descent have been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5451. en:three forms of cjd: acquired (including variant), sporadic, and inherited --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three forms of cjd: acquired (including variant), sporadic, and inherited | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5452. en:three girls from 2 unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three girls from 2 unrelated families have been reported (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5453. en:three main clinical forms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three main clinical forms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5454. en:three main phenotypes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three main phenotypes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5455. en:three major clinical forms are apparent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three major clinical forms are apparent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5456. en:three males in 1 family have been reported (last curated august 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three males in 1 family have been reported (last curated august 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5457. en:three out of 4 reported patients died (last curated may 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three out of 4 reported patients died (last curated may 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5458. en:three patients (2 related) reported (last curated march 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients (2 related) reported (last curated march 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5459. en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5460. en:three patients from 1 french canadian family have been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients from 1 french canadian family have been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5461. en:three patients from 1 mexican family has been reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients from 1 mexican family has been reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5462. en:three patients from 2 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients from 2 families have been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5463. en:three patients from 2 unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients from 2 unrelated families have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5464. en:three patients from 2 unrelated families have been reported (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients from 2 unrelated families have been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5465. en:three patients have been described (last curated january 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients have been described (last curated january 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5466. en:three patients have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5467. en:three patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients have been reported (as of august 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5468. en:three patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients have been reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5469. en:three patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients have been reported (as of november 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5470. en:three patients have been reported (as of october 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients have been reported (as of october 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5471. en:three patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5472. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5473. en:three patients reported, one with a wdpcp mutation (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5474. en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5475. en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5476. en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5477. en:three sibs in one consanguineous iranian family have been described (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5478. en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5479. en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5480. en:three times more common in males --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three times more common in males | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5481. en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5482. en:three types of cystinosis are recognized --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three types of cystinosis are recognized | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5483. 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:one patient reported (last curated november 2012)
    n1=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5484. en:three unrelated caucasian patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated caucasian patients have been reported (as of january 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5485. en:three unrelated families have been reported (as of june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (as of june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5486. en:three unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5487. en:three unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5488. en:three unrelated families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5489. en:three unrelated families have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5490. en:three unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated june 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5491. en:three unrelated families have been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5492. en:three unrelated families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5493. en:three unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5494. en:three unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated families have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5495. en:three unrelated french families have been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated french families have been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5496. en:three unrelated girls have been reported (as of july 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated girls have been reported (as of july 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5497. en:three unrelated males have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated males have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5498. en:three unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5499. en:three unrelated patients have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5500. en:three unrelated patients have been reported (last curated january 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated january 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5501. en:three unrelated patients have been reported (last curated july 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated july 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5502. en:three unrelated patients have been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5503. en:three unrelated patients have been reported (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5504. en:three unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5505. en:three unrelated patients have been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients have been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5506. en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5507. en:three unrelated probands have been reported (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three unrelated probands have been reported (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5508. en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5509. en:thromboembolism is the most common cause of death --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:thromboembolism is the most common cause of death | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5510. en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5511. en:thyroid carcinoma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:thyroid carcinoma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5512. en:time of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:time of analysis:tmstp:pt:xxx:qn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5513. en:toe-walking gait --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:toe-walking gait | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5514. en:tooth agenesis ranges from 1 missing tooth to marked oligodontia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5515. en:torso and upper body remain normal in shape and contour --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:torso and upper body remain normal in shape and contour | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5516. 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:one patient reported (last curated november 2012)
    n1=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5517. en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5518. en:trauma may accelerate symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:trauma may accelerate symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5519. en:trauma, anxiety, and/or stress can precipitate or aggravate edema --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5520. en:trauma, im injection, surgery can be foci of ectopic ossification --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:trauma, im injection, surgery can be foci of ectopic ossification | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5521. en:treatment with betaine, especially for pyridoxine nonresponders --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with betaine, especially for pyridoxine nonresponders | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5522. en:treatment with bh4 is effective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with bh4 is effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5523. en:treatment with coq10 may result in some clinical improvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with coq10 may result in some clinical improvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5524. en:treatment with dichloroacetate (dca) prolongs survival --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with dichloroacetate (dca) prolongs survival | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5525. en:treatment with enzyme replacement therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with enzyme replacement therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5526. en:treatment with folinic acid offers some benefit for anemia and seizure control --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with folinic acid offers some benefit for anemia and seizure control | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5527. en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5528. en:treatment with levodopa is not effective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with levodopa is not effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5529. en:treatment with oral coenzyme q may ameliorate symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with oral coenzyme q may ameliorate symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5530. en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5531. en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5532. en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5533. en:treatment with riboflavin has been helpful in some patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with riboflavin has been helpful in some patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5534. en:treatment with serine and glycine replacement may alleviate features if started at birth --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with serine and glycine replacement may alleviate features if started at birth | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5535. en:treatment with tnf inhibitors may be beneficial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with tnf inhibitors may be beneficial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5536. en:treatment with vitamin d and phosphate is effective --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:treatment with vitamin d and phosphate is effective | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5537. en:tremor is aggravated by emotional stress --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tremor is aggravated by emotional stress | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5538. en:tremor is aggravated by low glucose or light --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tremor is aggravated by low glucose or light | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5539. en:tremor may be elicited by movement or postural maintenance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tremor may be elicited by movement or postural maintenance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5540. en:tremors develop after seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tremors develop after seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5541. en:triggered by exercise, fasting, or other metabolic stresses --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:triggered by exercise, fasting, or other metabolic stresses | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5542. en:triggered by minor head trauma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:triggered by minor head trauma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5543. en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5544. en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5545. en:triggers are variable, even within a family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:triggers are variable, even within a family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5546. 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:one patient reported (last curated november 2012)
    n1=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5547. 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:one patient reported (last curated november 2012)
    n1=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5548. en:truncating mutations in crebbp found in 10% of patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:truncating mutations in crebbp found in 10% of patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5549. en:tumor predisposition syndrome --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tumor predisposition syndrome | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5550. en:tumor suppressor genes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tumor suppressor genes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5551. en:tumors are microsatellite stable --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tumors are microsatellite stable | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5552. en:tumors may show spontaneous regression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tumors may show spontaneous regression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5553. en:tumors usually develop between 40 and 60 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:tumors usually develop between 40 and 60 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5554. en:twelve or more lesions per eye in individuals over 60 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:twelve or more lesions per eye in individuals over 60 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5555. en:twenty-five percent of affected babies are stillborn --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:twenty-five percent of affected babies are stillborn | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5556. en:twinning due to superfetation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:twinning due to superfetation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5557. en:two adult sibs have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two adult sibs have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5558. en:two affected females have been reported (last curated november 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two affected females have been reported (last curated november 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5559. en:two affected sibs have been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two affected sibs have been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5560. en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5561. en:two arab muslim families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two arab muslim families have been reported (last curated october 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5562. en:two autosomal dominant families have been reported (as of may 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two autosomal dominant families have been reported (as of may 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5563. en:two brothers in a french family have been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two brothers in a french family have been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5564. en:two chinese sisters and one chinese woman have been described (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5565. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5566. en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5567. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5568. en:two consanguineous families with 2 patients each have been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5569. en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5570. en:two consanguineous lebanese families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two consanguineous lebanese families have been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5571. en:two consanguineous pakistan families have been described --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two consanguineous pakistan families have been described | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5572. en:two consanguineous turkish families have been reported (as of august 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two consanguineous turkish families have been reported (as of august 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5573. en:two consanguineous turkish families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two consanguineous turkish families have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5574. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5575. en:two families described (last curated july 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families described (last curated july 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5576. en:two families described (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families described (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5577. en:two families each with two affected children have been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families each with two affected children have been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5578. en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5579. en:two families have been reported (as of 6/2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (as of 6/2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5580. en:two families have been reported (as of curation date april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (as of curation date april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5581. en:two families have been reported (as of june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (as of june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5582. en:two families have been reported (as of may 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (as of may 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5583. en:two families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5584. en:two families have been reported (last curated december 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (last curated december 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5585. en:two families have been reported (last curated december 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (last curated december 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5586. en:two families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5587. en:two families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5588. en:two families have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5589. en:two families have been reported (september 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families have been reported (september 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5590. en:two families of canadian origin have been reported (last curated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families of canadian origin have been reported (last curated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5591. en:two families of french-canadian origin have been reported (last curated december 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families of french-canadian origin have been reported (last curated december 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5592. en:two families reported (last curated february 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families reported (last curated february 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5593. en:two families reported (last curated september 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families reported (last curated september 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5594. en:two families with different phenotypes have been reported (as of september 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two families with different phenotypes have been reported (as of september 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5595. en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5596. en:two fetuses have been reported (as of august 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two fetuses have been reported (as of august 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5597. en:two forms: iia (severe) and iib (mild) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two forms: iia (severe) and iib (mild) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5598. en:two japanese brothers have been reported (as of september 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two japanese brothers have been reported (as of september 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5599. en:two japanese families have been reported (as of february 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two japanese families have been reported (as of february 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5600. en:two japanese patients have been reported (last curated march 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two japanese patients have been reported (last curated march 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5601. en:two jordanian sibs have been reported (last curated november 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two jordanian sibs have been reported (last curated november 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5602. en:two loci control synthesis of c4, c4a (120810) and c4b (120820) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5603. en:two loci described - eec1 (129900) and eec3 (604292) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two loci described - eec1 (129900) and eec3 (604292) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5604. en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5605. en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5606. en:two main phenotypes, metabolic and neurologic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two main phenotypes, metabolic and neurologic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5607. en:two main phenotypes, severe and mild --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two main phenotypes, severe and mild | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5608. en:two main presentations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two main presentations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5609. en:two mother and child pairs have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two mother and child pairs have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5610. en:two of 3 patients became wheelchair-bound --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two of 3 patients became wheelchair-bound | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5611. en:two of 6 patients became wheelchair-bound by age 20 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two of 6 patients became wheelchair-bound by age 20 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5612. en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5613. en:two pakistani families have been reported (last curated december 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two pakistani families have been reported (last curated december 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5614. en:two pakistani families reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two pakistani families reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5615. en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5616. en:two patients from 1 italian family have been reported (as of april 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients from 1 italian family have been reported (as of april 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5617. en:two patients from spain have been reported (as of january 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients from spain have been reported (as of january 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5618. en:two patients have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5619. en:two patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients have been reported (as of august 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5620. en:two patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients have been reported (as of august 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5621. en:two patients in one ashkenzai jewish family described (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients in one ashkenzai jewish family described (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5622. en:two patients reported (last curated may 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients reported (last curated may 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5623. en:two patients required liver transplantation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients required liver transplantation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5624. en:two patients with a wws phenotype have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients with a wws phenotype have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5625. 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:one patient reported (last curated november 2012)
    n1=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5626. en:two patients with point mutations in rad21 have been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5627. en:two patients without cardiomyopathy or cataracts have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two patients without cardiomyopathy or cataracts have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5628. en:two peaks of onset, childhood and adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two peaks of onset, childhood and adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5629. en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5630. en:two probands have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two probands have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5631. en:two related patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two related patients have been reported (as of november 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5632. en:two siblings of consanguineous turkish parents have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two siblings of consanguineous turkish parents have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5633. en:two sibs and an unrelated fetus have been reported (last curated february 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5634. en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5635. en:two sibs died before 2 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs died before 2 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5636. en:two sibs have been reported (last curated july 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs have been reported (last curated july 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5637. en:two sibs have been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs have been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5638. en:two sibs have been reported (last curated may 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs have been reported (last curated may 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5639. en:two sibs have been reported (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs have been reported (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5640. en:two sibs have been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs have been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5641. en:two sibs, a boy and a girl, have been reported (as of july 2009) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sibs, a boy and a girl, have been reported (as of july 2009) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5642. en:two sisters have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sisters have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5643. en:two sisters have been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sisters have been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5644. en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5645. en:two subtypes - seminoma and nonseminoma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two subtypes - seminoma and nonseminoma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5646. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5647. en:two subtypes noninflammatory type a and inflammatory type b --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two subtypes noninflammatory type a and inflammatory type b | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5648. en:two subtypes, episodic (85% of patients) and chronic (15%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two subtypes, episodic (85% of patients) and chronic (15%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5649. en:two thirds of patients are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two thirds of patients are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5650. en:two types - lethal neonatal and less severe, late onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two types - lethal neonatal and less severe, late onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5651. en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5652. en:two types - severe infantile form (type i) and milder form (type ii) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two types - severe infantile form (type i) and milder form (type ii) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5653. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5654. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5655. en:two unrelated boys have been reported (last curated october 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated boys have been reported (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5656. en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5657. en:two unrelated chinese families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated chinese families have been reported (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5658. en:two unrelated chinese families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated chinese families have been reported (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5659. en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5660. en:two unrelated consanguineous families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated consanguineous families have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5661. en:two unrelated consanguineous families have been reported (last curated january 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated consanguineous families have been reported (last curated january 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5662. en:two unrelated consanguineous families have been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated consanguineous families have been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5663. en:two unrelated consanguineous families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated consanguineous families have been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5664. en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5665. en:two unrelated families have been reported (as of july 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (as of july 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5666. en:two unrelated families have been reported (as of october 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (as of october 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5667. en:two unrelated families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5668. en:two unrelated families have been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5669. en:two unrelated families have been reported (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5670. en:two unrelated families have been reported (last curated august 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5671. en:two unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated august 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5672. en:two unrelated families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5673. en:two unrelated families have been reported (last curated december 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated december 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5674. en:two unrelated families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5675. en:two unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5676. en:two unrelated families have been reported (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5677. en:two unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated july 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5678. en:two unrelated families have been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5679. en:two unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated june 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5680. en:two unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated june 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5681. en:two unrelated families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated march 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5682. en:two unrelated families have been reported (last curated may 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated may 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5683. en:two unrelated families have been reported (last curated may 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated may 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5684. en:two unrelated families have been reported (last curated november 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated november 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5685. en:two unrelated families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated november 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5686. en:two unrelated families have been reported (last curated november 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated november 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5687. en:two unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated october 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5688. en:two unrelated families have been reported (last curated september 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated september 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5689. en:two unrelated families have been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5690. en:two unrelated families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5691. en:two unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated september 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5692. en:two unrelated families have been reported to have hpca mutations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families have been reported to have hpca mutations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5693. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5694. en:two unrelated families of european descent have been reported (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated families of european descent have been reported (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5695. 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:one patient reported (last curated november 2012)
    n1=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5696. en:two unrelated girls reported (last curated october 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated girls reported (last curated october 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5697. en:two unrelated individuals have been reported (last curated january 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated individuals have been reported (last curated january 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5698. en:two unrelated japanese families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated japanese families have been reported (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5699. en:two unrelated japanese patients have been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated japanese patients have been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5700. en:two unrelated japanese patients have been reported (last curated may 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated japanese patients have been reported (last curated may 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5701. en:two unrelated men have been reported (last curated march 2016) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated men have been reported (last curated march 2016) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5702. en:two unrelated patients had multiple congenital anomalies and died in early infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients had multiple congenital anomalies and died in early infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5703. en:two unrelated patients have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5704. en:two unrelated patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (as of august 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5705. en:two unrelated patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (as of january 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5706. en:two unrelated patients have been reported (as of june 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (as of june 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5707. en:two unrelated patients have been reported (as of may 2011) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (as of may 2011) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5708. en:two unrelated patients have been reported (last curated april 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated april 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5709. en:two unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated april 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5710. en:two unrelated patients have been reported (last curated april 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated april 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5711. en:two unrelated patients have been reported (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5712. en:two unrelated patients have been reported (last curated december 2010) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated december 2010) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5713. en:two unrelated patients have been reported (last curated december 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated december 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5714. en:two unrelated patients have been reported (last curated december 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated december 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5715. en:two unrelated patients have been reported (last curated february 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated february 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5716. en:two unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated january 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5717. en:two unrelated patients have been reported (last curated july 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated july 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5718. en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5719. en:two unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated july 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5720. en:two unrelated patients have been reported (last curated june 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated june 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5721. en:two unrelated patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated june 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5722. en:two unrelated patients have been reported (last curated june 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated june 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5723. en:two unrelated patients have been reported (last curated march 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated march 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5724. en:two unrelated patients have been reported (last curated may 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated may 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5725. en:two unrelated patients have been reported (last curated october 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated october 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5726. en:two unrelated patients have been reported (last curated october 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated october 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5727. en:two unrelated patients have been reported (last curated october 2015) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated october 2015) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5728. en:two unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported (last curated september 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5729. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5730. 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:one patient reported (last curated november 2012)
    n1=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5731. en:two unrelated patients reported (last curated september 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients reported (last curated september 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5732. en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5733. en:two unrelated patients with confirmed mutations have been reported (as of january 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5734. en:two unrelated patients with different phenotypes have been reported (as of march 2012) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5735. en:two unrelated patients with epileptic encephalopathy have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients with epileptic encephalopathy have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5736. en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5737. en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5738. en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5739. en:type 1 - associated with osteogenesis imperfecta (125490) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 1 - associated with osteogenesis imperfecta (125490) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5740. en:type 1 porencephaly is usually unilateral and results from destructive lesions --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 1 porencephaly is usually unilateral and results from destructive lesions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5741. en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5742. en:type 2 porencephaly is usually symmetrical and results from developmental malformation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5743. en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5744. en:type 2a is characterized by deficiency of high molecular weight monomers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2a is characterized by deficiency of high molecular weight monomers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5745. en:type 2b is characterized by increased affinity for platelet glycoprotein 1b --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5746. en:type 2cb is characterized by defective binding affinity for collagen types i and iii --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5747. en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5748. en:type 2n is characterized by decreased binding affinity for factor viii --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2n is characterized by decreased binding affinity for factor viii | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5749. en:type 2n shows autosomal recessive inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 2n shows autosomal recessive inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5750. en:type 3 - brandywine isolate opalescent dentin (125500) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 3 - brandywine isolate opalescent dentin (125500) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5751. en:type 3: craniosynostosis, early demise, sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type 3: craniosynostosis, early demise, sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5752. en:type a characterized by progressive myoclonic epilepsy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type a characterized by progressive myoclonic epilepsy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5753. en:type b characterized by dementia, motor disturbances, and facial dyskinesia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5754. en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5755. en:type i has most severe manifestations by age 4-5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type i has most severe manifestations by age 4-5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5756. en:type i is infantile-onset, severe --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type i is infantile-onset, severe | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5757. en:type i onset at 8 to 15 months of age after normal development --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type i onset at 8 to 15 months of age after normal development | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5758. en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5759. en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5760. en:type ii is adult-onset (kanzaki disease, 609242) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type ii is adult-onset (kanzaki disease, 609242) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5761. en:type ii is progressive and leads to shortened lifespan --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type ii is progressive and leads to shortened lifespan | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5762. en:type ii patients are usually japanese and have significant aprt activity (10-25%) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5763. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5764. en:type iia tends to have more severe phenotype with earlier onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type iia tends to have more severe phenotype with earlier onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5765. en:type iii is intermediate form --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type iii is intermediate form | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5766. en:type iiia has both liver and muscle involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type iiia has both liver and muscle involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5767. en:type iiib liver involvement only (15% of all cases) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:type iiib liver involvement only (15% of all cases) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5768. en:types of psoriasis include - plaque, guttate, erythrodermic, pustular --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5769. en:typical attacks last from seconds to minutes, but longer occurrences have been reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5770. en:typical onset in adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:typical onset in adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5771. en:typically no physical features of albright hereditary osteodystrophy (aho) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:typically no physical features of albright hereditary osteodystrophy (aho) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5772. en:typically sporadic occurrence --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:typically sporadic occurrence | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5773. en:u-shaped pattern of temperature-dependent potassium flux (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5774. en:u.s. frequency higher in blacks than whites --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:u.s. frequency higher in blacks than whites | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5775. en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5776. en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5777. en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5778. en:ultrasound detection in second trimester of pregnancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ultrasound detection in second trimester of pregnancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5779. en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5780. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5781. en:uncommon and rare features seen in the most severely affected patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:uncommon and rare features seen in the most severely affected patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5782. en:uncommon disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:uncommon disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5783. en:uniparental disomy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:uniparental disomy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5784. en:unusual cabbage-like odor --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:unusual cabbage-like odor | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5785. en:unusual skill with jigsaw puzzle --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:unusual skill with jigsaw puzzle | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5786. en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5787. en:up to 50% of patients may have various additional congenital anomalies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:up to 50% of patients may have various additional congenital anomalies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5788. en:up to 60% of female mutation carriers develop lobular breast cancer --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:up to 60% of female mutation carriers develop lobular breast cancer | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5789. en:upper limb involvement in first decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:upper limb involvement in first decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5790. en:upper limb involvement may occur later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:upper limb involvement may occur later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5791. en:upper limb involvement occur later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:upper limb involvement occur later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5792. en:upper limb involvement usually occurs later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:upper limb involvement usually occurs later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5793. en:upper urinary tract usually normal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:upper urinary tract usually normal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5794. 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:one patient reported (last curated november 2012)
    n1=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5795. en:urine turns dark on standing and alkalinization --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:urine turns dark on standing and alkalinization | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5796. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5797. en:ush3 cases account for 40% of all usher patients in finland --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:ush3 cases account for 40% of all usher patients in finland | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5798. en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5799. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5800. en:usual age of onset in the 20s and 30s --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usual age of onset in the 20s and 30s | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5801. en:usual onset before age 6 years and death by age 20 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usual onset before age 6 years and death by age 20 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5802. en:usual onset under age 30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usual onset under age 30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5803. en:usually a manifestation of the carney complex (cnc1, 1609890) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually a manifestation of the carney complex (cnc1, 1609890) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5804. en:usually a sporadic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually a sporadic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5805. en:usually adult onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5806. en:usually affects children --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually affects children | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5807. en:usually asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5808. en:usually begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually begins in feet and legs (peroneal distribution) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5809. en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5810. en:usually clinically asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually clinically asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5811. en:usually death in utero or rarely in neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually death in utero or rarely in neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5812. en:usually fatal --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually fatal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5813. en:usually fatal by age 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually fatal by age 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5814. en:usually fatal in first 2 decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually fatal in first 2 decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5815. en:usually fatal in infancy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually fatal in infancy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5816. en:usually fatal within the first few weeks of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually fatal within the first few weeks of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5817. en:usually favorable response to treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually favorable response to treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5818. en:usually follows a static course or is slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually follows a static course or is slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5819. en:usually lethal in the neonatal period --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually lethal in the neonatal period | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5820. en:usually no increased fragility of hair --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually no increased fragility of hair | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5821. en:usually occurs in children younger than 5 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually occurs in children younger than 5 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5822. en:usually occurs in young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually occurs in young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5823. en:usually occurs in young adults --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually occurs in young adults | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5824. en:usually poor response to steroid treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually poor response to steroid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5825. en:usually presents in third to fourth decade (but onset can range from childhood to elderly) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5826. en:usually progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5827. en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5828. en:usually sporadic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually sporadic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5829. en:usually sporadic disorder resulting from de novo 22q11.2 deletion --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5830. en:usually sporadic, but 1-2% of cases are familial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually sporadic, but 1-2% of cases are familial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5831. en:usually sporadic, few cases described with autosomal dominant inheritance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually sporadic, few cases described with autosomal dominant inheritance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5832. en:usually symptomatic in adulthood with history of weakness since infancy or childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5833. en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5834. en:variability in age of onset and severity of disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variability in age of onset and severity of disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5835. 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:one patient reported (last curated november 2012)
    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:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5836. en:variable abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5837. en:variable age at diagnosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at diagnosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5838. en:variable age at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5839. en:variable age at onset (8 to 62 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (8 to 62 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5840. en:variable age at onset (birth to adolescence) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (birth to adolescence) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5841. en:variable age at onset (birth to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (birth to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5842. en:variable age at onset (childhood to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (childhood to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5843. en:variable age at onset (childhood to adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (childhood to adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5844. en:variable age at onset (childhood to age 50) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (childhood to age 50) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5845. en:variable age at onset (earliest reported 7 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (earliest reported 7 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5846. en:variable age at onset (infant to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (infant to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5847. en:variable age at onset (late childhood to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (late childhood to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5848. en:variable age at onset (range 10 to 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 10 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5849. en:variable age at onset (range 14 to 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 14 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5850. en:variable age at onset (range 15 to 60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 15 to 60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5851. en:variable age at onset (range 2 to 48 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 2 to 48 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5852. en:variable age at onset (range 2 to 59 years, mean 24 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 2 to 59 years, mean 24 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5853. en:variable age at onset (range 25 to 78 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 25 to 78 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5854. en:variable age at onset (range 4 to 40 years, mostly in first or second decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5855. en:variable age at onset (range 6 to 54 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 6 to 54 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5856. en:variable age at onset (range 8 to 60 years, mean 32) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 8 to 60 years, mean 32) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5857. en:variable age at onset (range 9 to 78 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range 9 to 78 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5858. en:variable age at onset (range adolescence to late adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range adolescence to late adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5859. en:variable age at onset (range birth to 60 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range birth to 60 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5860. en:variable age at onset (range birth to teenage years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range birth to teenage years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5861. en:variable age at onset (range childhood to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range childhood to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5862. en:variable age at onset (range childhood to adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range childhood to adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5863. en:variable age at onset (range childhood to late adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range childhood to late adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5864. en:variable age at onset (range childhood to mid-sixties) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range childhood to mid-sixties) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5865. en:variable age at onset (range first to fourth decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range first to fourth decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5866. en:variable age at onset (range first to third decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range first to third decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5867. en:variable age at onset (range from early childhood to mid-adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range from early childhood to mid-adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5868. en:variable age at onset (range infancy to 30 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range infancy to 30 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5869. en:variable age at onset (range infancy to adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range infancy to adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5870. en:variable age at onset (range infancy to late adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range infancy to late adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5871. en:variable age at onset (range infancy to young adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range infancy to young adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5872. en:variable age at onset (range late infancy to adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range late infancy to adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5873. en:variable age at onset (range prenatal to mid-adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range prenatal to mid-adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5874. en:variable age at onset (range teenage to adult years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range teenage to adult years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5875. en:variable age at onset (range teens to late adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (range teens to late adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5876. en:variable age at onset (usually 20 to 30 years of age) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset (usually 20 to 30 years of age) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5877. en:variable age at onset from childhood to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset from childhood to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5878. en:variable age at onset of arrhythmia (range 12 to 59 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset of arrhythmia (range 12 to 59 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5879. en:variable age at onset of neuropathy (range first to sixth decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset of neuropathy (range first to sixth decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5880. en:variable age at onset of seizures --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset of seizures | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5881. en:variable age at onset of symptoms (from childhood to the sixth decade of life) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5882. en:variable age at onset of symptoms, from second to fifth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset of symptoms, from second to fifth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5883. en:variable age at onset of symptoms, ranging from the second to seventh decades of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5884. en:variable age at onset, but most often in the first 2 decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, but most often in the first 2 decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5885. en:variable age at onset, but usually in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, but usually in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5886. en:variable age at onset, early childhood to adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, early childhood to adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5887. en:variable age at onset, first to second decades --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, first to second decades | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5888. en:variable age at onset, from birth to ninth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, from birth to ninth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5889. en:variable age at onset, from first decade to fourth or fifth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, from first decade to fourth or fifth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5890. en:variable age at onset, infancy to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, infancy to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5891. en:variable age at onset, most often in second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, most often in second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5892. en:variable age at onset, mostly in third decade (range teenage years to fourth decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5893. en:variable age at onset, range from infancy to adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, range from infancy to adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5894. en:variable age at onset, range infancy to adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, range infancy to adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5895. en:variable age at onset, ranges from third to fifth decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, ranges from third to fifth decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5896. en:variable age at onset, ranging from 18 months to 27 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, ranging from 18 months to 27 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5897. en:variable age at onset, ranging from childhood to adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, ranging from childhood to adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5898. en:variable age at onset, ranging from childhood to late adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, ranging from childhood to late adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5899. en:variable age at onset, ranging from prelingual at birth to fifth decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, ranging from prelingual at birth to fifth decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5900. en:variable age at onset, usually first or second decade --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, usually first or second decade | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5901. en:variable age at onset, usually in first decade, but can occur later --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, usually in first decade, but can occur later | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5902. en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5903. en:variable age of onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5904. en:variable age of onset (20 to 35 years old) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (20 to 35 years old) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5905. en:variable age of onset (6 to 35 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (6 to 35 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5906. en:variable age of onset (7-59 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (7-59 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5907. en:variable age of onset (childhood to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (childhood to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5908. en:variable age of onset (childhood to adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (childhood to adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5909. en:variable age of onset (childhood to young adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (childhood to young adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5910. en:variable age of onset (first to third decades) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (first to third decades) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5911. en:variable age of onset (infancy to 63 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (infancy to 63 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5912. en:variable age of onset (range 1 to 30 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (range 1 to 30 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5913. en:variable age of onset (range 1-40 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (range 1-40 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5914. en:variable age of onset (range 13 to 67 years, median 48 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (range 13 to 67 years, median 48 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5915. en:variable age of onset (range 4 months to 45 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (range 4 months to 45 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5916. en:variable age of onset (range 4 to 47 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (range 4 to 47 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5917. en:variable age of onset (range early childhood to adult) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (range early childhood to adult) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5918. en:variable age of onset (range first to third decade) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset (range first to third decade) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5919. en:variable age of onset of parkinsonism (first decade to adulthood) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset of parkinsonism (first decade to adulthood) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5920. en:variable age of onset of renal manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset of renal manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5921. en:variable age of onset, from 6 to 50 years of age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset, from 6 to 50 years of age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5922. en:variable age of onset, from early childhood to seventh decade of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset, from early childhood to seventh decade of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5923. en:variable age of onset, ranging from 11 to 50 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable age of onset, ranging from 11 to 50 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5924. en:variable cardiac defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable cardiac defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5925. en:variable cardiac phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable cardiac phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5926. en:variable cataract phenotypes within a family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable cataract phenotypes within a family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5927. en:variable clinical features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable clinical features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5928. en:variable clinical phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable clinical phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5929. en:variable clinical presentation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable clinical presentation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5930. en:variable clinical presentation ranging from acute onset to normal adult --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable clinical presentation ranging from acute onset to normal adult | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5931. en:variable clinical presentation that may change with age --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable clinical presentation that may change with age | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5932. en:variable clinical severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable clinical severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5933. en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5934. en:variable disease course --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable disease course | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5935. en:variable disease severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable disease severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5936. en:variable distribution, may be focal, segmental, multifocal, or generalized --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable distribution, may be focal, segmental, multifocal, or generalized | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5937. en:variable duration (minutes to hours) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable duration (minutes to hours) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5938. en:variable dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5939. en:variable expression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5940. en:variable expression and severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expression and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5941. en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5942. en:variable expression of features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expression of features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5943. en:variable expressivity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expressivity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5944. en:variable expressivity in families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expressivity in families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5945. en:variable expressivity of each feature --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expressivity of each feature | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5946. en:variable expressivity within a family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expressivity within a family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5947. en:variable expressivity, even within families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expressivity, even within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5948. en:variable expressivity, some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable expressivity, some patients may be clinically asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5949. en:variable extraneurologic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable extraneurologic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5950. en:variable facial dysmorphic features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable facial dysmorphic features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5951. en:variable features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5952. en:variable features and severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable features and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5953. en:variable features present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable features present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5954. en:variable frequency (2 per day up to 1 per month) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable frequency (2 per day up to 1 per month) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5955. en:variable frequency (daily to monthly) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable frequency (daily to monthly) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5956. en:variable frequency (weekly to yearly) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable frequency (weekly to yearly) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5957. en:variable frequency and duration of episodes --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable frequency and duration of episodes | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5958. en:variable frequency and severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable frequency and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5959. en:variable heat tolerance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable heat tolerance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5960. en:variable ictal semiology --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable ictal semiology | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5961. en:variable infectious phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable infectious phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5962. en:variable involvement of hematologic parameters --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable involvement of hematologic parameters | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5963. en:variable locations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable locations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5964. en:variable manifestation of features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable manifestation of features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5965. en:variable manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5966. en:variable neurologic phenotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable neurologic phenotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5967. en:variable neuroradiologic findings --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable neuroradiologic findings | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5968. en:variable number of nails involved --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable number of nails involved | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5969. en:variable onset of seizures from neonatal to first year of life --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable onset of seizures from neonatal to first year of life | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5970. en:variable onset, from infancy to young adulthood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable onset, from infancy to young adulthood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5971. en:variable pattern of body involvement although symptoms may predominate in upper or lower body --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5972. en:variable penetrance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable penetrance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5973. en:variable penetrance and expressivity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable penetrance and expressivity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5974. en:variable penetrance of these features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable penetrance of these features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5975. en:variable phenotype (myotonia may or may not be present) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype (myotonia may or may not be present) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5976. en:variable phenotype (range from completely female to males with mild undermasculinization) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype (range from completely female to males with mild undermasculinization) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5977. en:variable phenotype and severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5978. en:variable phenotype depending on residual enzyme activity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype depending on residual enzyme activity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5979. en:variable phenotype ranging from woolly to sparse hair, even within a single family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype ranging from woolly to sparse hair, even within a single family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5980. en:variable phenotype within and between oi5 families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype within and between oi5 families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5981. en:variable phenotype within families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5982. en:variable phenotype within families ranging from woolly hair to hypotrichosis --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype within families ranging from woolly hair to hypotrichosis | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5983. en:variable phenotype, particularly with regard to cortical malformations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype, particularly with regard to cortical malformations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5984. en:variable phenotype, some patients have very mild symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotype, some patients have very mild symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5985. en:variable phenotypic expression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotypic expression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5986. en:variable phenotypic expression within same individual in each eye (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotypic expression within same individual in each eye (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5987. en:variable phenotypic features cataloged depending on development of fetus or infant --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable phenotypic features cataloged depending on development of fetus or infant | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5988. en:variable presentation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable presentation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5989. en:variable presentation and evolution of symptoms --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable presentation and evolution of symptoms | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5990. en:variable presentation and manifestations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable presentation and manifestations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5991. en:variable presentation of clinical features --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable presentation of clinical features | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5992. en:variable progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5993. en:variable progression rate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable progression rate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5994. en:variable response to acetazolamide and carbamazepine --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable response to acetazolamide and carbamazepine | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5995. en:variable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable response to acetylcholinesterase inhibitors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5996. en:variable response to levodopa treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable response to levodopa treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5997. en:variable response to steroid treatment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable response to steroid treatment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5998. en:variable response to vitamin b12 therapy --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable response to vitamin b12 therapy | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5999. en:variable severity (in patients with hsan2d) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity (in patients with hsan2d) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6000. en:variable severity (mild symptoms to severe handicap) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity (mild symptoms to severe handicap) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6001. en:variable severity and progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity and progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6002. en:variable severity between patients and between eyes (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity between patients and between eyes (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6003. en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6004. en:variable severity of brain malformations --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity of brain malformations | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6005. en:variable severity of phenotype and other features may be present --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity of phenotype and other features may be present | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6006. en:variable severity of scaling and palmoplantar keratoderma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity of scaling and palmoplantar keratoderma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6007. en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6008. en:variable severity that correlates with rate and magnitude of neuronal protein accumulation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6009. en:variable severity, correlates with age at onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity, correlates with age at onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6010. en:variable severity, even within families --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity, even within families | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6011. en:variable severity, intrafamilial --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity, intrafamilial | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6012. en:variable severity, ranging from 'typical' to 'severe' disease --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity, ranging from 'typical' to 'severe' disease | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6013. en:variable severity, ranging from central severe to peripheral to transient --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity, ranging from central severe to peripheral to transient | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6014. en:variable severity, some patients have a protracted course with little neurologic involvement --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable severity, some patients have a protracted course with little neurologic involvement | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6015. en:variable survival --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable survival | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6016. en:variable survival (some neonatal lethality) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variable survival (some neonatal lethality) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6017. en:variably expressivity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variably expressivity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6018. en:variably severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variably severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6019. en:variant at may present with dystonia only --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variant at may present with dystonia only | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6020. en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6021. en:variation in slc24a5 has also been associated with variation in skin color (shep4) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6022. en:vasculitic symptoms are associated with cold exposure (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:vasculitic symptoms are associated with cold exposure (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6023. en:vast majority of heterozygotes are asymptomatic --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:vast majority of heterozygotes are asymptomatic | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6024. en:venous malformations previously referred to as angiomas or hemangiomas --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:venous malformations previously referred to as angiomas or hemangiomas | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6025. en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6026. en:very few patients reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:very few patients reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6027. en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6028. en:very rare --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:very rare | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6029. en:very slow progression --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:very slow progression | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6030. en:very variable phenotype, with some patients having many features and others only a few --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:very variable phenotype, with some patients having many features and others only a few | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6031. en:vhl type 1 - renal carcinoma and hemangioblastoma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:vhl type 1 - renal carcinoma and hemangioblastoma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6032. en:vhl type 2a - hemangioblastoma and pheochromocytoma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:vhl type 2a - hemangioblastoma and pheochromocytoma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6033. en:vhl type 2b - renal carcinoma and pheochromocytoma --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:vhl type 2b - renal carcinoma and pheochromocytoma | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6034. en:vhl type 2c - pheochromocytoma only --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:vhl type 2c - pheochromocytoma only | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6035. en:virtually all patients are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:virtually all patients are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6036. en:virtually all patients with this condition are female --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:virtually all patients with this condition are female | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6037. en:visceral manifestations are less apparent --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visceral manifestations are less apparent | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6038. en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6039. en:visual acuity better than anticipated from ophthalmoscopic appearance --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visual acuity better than anticipated from ophthalmoscopic appearance | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6040. en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6041. en:visual acuity varies from 20/20 to no light perception --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visual acuity varies from 20/20 to no light perception | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6042. en:visual and hearing loss are slowly progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visual and hearing loss are slowly progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6043. en:visual field and color defects invariably present only in patients with advanced loss of vision --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visual field and color defects invariably present only in patients with advanced loss of vision | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6044. en:visual impairment is present at birth and is progressive --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visual impairment is present at birth and is progressive | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6045. en:visual symptoms present by late childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:visual symptoms present by late childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6046. en:waddling gait --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:waddling gait | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6047. en:waddling gait noted at age 15-20 months --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:waddling gait noted at age 15-20 months | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6048. en:waddling gait, often presenting sign in second year --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:waddling gait, often presenting sign in second year | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6049. en:waddling gate --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:waddling gate | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6050. en:walking delay --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:walking delay | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6051. en:warm weather and alcohol are alleviating factors --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:warm weather and alcohol are alleviating factors | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6052. en:wasting of hands often occurs first --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wasting of hands often occurs first | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6053. en:wasting of the hands is the first and most prominent manifestation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wasting of the hands is the first and most prominent manifestation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6054. en:waxing and waning cardiomyopathy (in some patients) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:waxing and waning cardiomyopathy (in some patients) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6055. en:wheelchair use at 20-30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wheelchair use at 20-30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6056. en:wheelchair use by 10-30 years --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wheelchair use by 10-30 years | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6057. en:wheelchair-bound after 2 decades of disease onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wheelchair-bound after 2 decades of disease onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6058. en:wheelchair-bound average 12 years after onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wheelchair-bound average 12 years after onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6059. en:when present, onset of vestibular dysfunction in childhood --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:when present, onset of vestibular dysfunction in childhood | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6060. en:wide clinical variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide clinical variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6061. en:wide phenotypic variability --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide phenotypic variability | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6062. en:wide phenotypic variability and severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide phenotypic variability and severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6063. en:wide phenotypic variation --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide phenotypic variation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6064. en:wide range of onset from childhood to adult (10 to 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide range of onset from childhood to adult (10 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6065. en:wide range of severity between affected members of the same family --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide range of severity between affected members of the same family | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6066. en:wide spectrum of severity --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide spectrum of severity | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6067. en:wide variability in severity of limb defects --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:wide variability in severity of limb defects | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6068. en:women affected more than men (3:2) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:women affected more than men (3:2) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6069. en:women are more often affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:women are more often affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6070. en:women may be mildly affected --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:women may be mildly affected | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6071. en:worldwide frequency of 1 in 100,000 infants --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:worldwide frequency of 1 in 100,000 infants | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6072. en:worldwide frequency of 1 in 2,000,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:worldwide frequency of 1 in 2,000,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6073. en:worldwide incidence of 1 in 185,000 live births --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:worldwide incidence of 1 in 185,000 live births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6074. en:worldwide prevalence of 1/100,000 --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:worldwide prevalence of 1/100,000 | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6075. en:worsening of hand weakness with cold (in some) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:worsening of hand weakness with cold (in some) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6076. en:worsening of symptoms during sleep --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:worsening of symptoms during sleep | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6077. en:x-linked inheritance could not be ruled out --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:x-linked inheritance could not be ruled out | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6078. en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6079. en:x-linked recessive cytochrome b-negative cgd --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:x-linked recessive cytochrome b-negative cgd | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6080. en:xy karyotype --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:xy karyotype | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6081. en:young adult onset --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:young adult onset | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6082. en:young adult onset (range 13 to 50 years) --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:young adult onset (range 13 to 50 years) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6083. en:young-adult onset (18-30 years) of sensory ataxia --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:young-adult onset (18-30 years) of sensory ataxia | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6084. en:younger onset rarely reported --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:younger onset rarely reported | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6085. en:z allele most common, only in caucasians --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:z allele most common, only in caucasians | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6086. en:zinc deficiency in breastfed offspring resolves after weaning --- r_associated #0: 20 --> en:one patient reported (last curated november 2012)
    n1=en:zinc deficiency in breastfed offspring resolves after weaning | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  6087. moniteur de glucose sanguin avec synthétiseur vocal intégré --- r_associated #0: 15 --> en:one patient reported (last curated november 2012)
    n1=moniteur de glucose sanguin avec synthétiseur vocal intégré | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=15
  6088. algie articulaire --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=algie articulaire | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6089. atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6090. douleur articulaire --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=douleur articulaire | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6091. hétérozygotes asymptomatiques susceptibles à la toxicité du plomb --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=hétérozygotes asymptomatiques susceptibles à la toxicité du plomb | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6092. intolérance alimentaire --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=intolérance alimentaire | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6093. mort du nouveau-né --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=mort du nouveau-né | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6094. mort néonatale --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=mort néonatale | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6095. mortinatalité --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=mortinatalité | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6096. polyhydramnios --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=polyhydramnios | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6097. quadriplégie spastique, rétinite pigmentaire et retard mental --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6098. rétinite pigmentaire (classification de Fishman) --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=rétinite pigmentaire (classification de Fishman) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6099. troubles congénitaux --- r_associated #0: 10 --> en:one patient reported (last curated november 2012)
    n1=troubles congénitaux | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=10
  6100. Lester (signe de) --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=Lester (signe de) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6101. Létal --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=Létal | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6102. Rétinite pigmentaire --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=Rétinite pigmentaire | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6103. anomalie congénitale --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=anomalie congénitale | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6104. arthralgie --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=arthralgie | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6105. disomie uniparentale --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=disomie uniparentale | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6106. douleur dans une articulation --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=douleur dans une articulation | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6107. en:congenital anomaly --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=en:congenital anomaly | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6108. large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6109. malformation congénitale --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=malformation congénitale | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6110. septicémie du nouveau-né --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=septicémie du nouveau-né | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6111. septicémie néonatale --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=septicémie néonatale | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6112. symptômes autonomes associés aux céphalées --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=symptômes autonomes associés aux céphalées | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=5
  6113. syndrome de prédisposition tumorale --- r_associated #0: 5 --> en:one patient reported (last curated november 2012)
    n1=syndrome de prédisposition tumorale | n2=en:one patient reported (last curated november 2012) | 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