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'en:two unrelated families have been reported (last curated february 2016)'
(id=9091085 ; fe=en:two unrelated families have been reported (last curated february 2016) ; type=1 ; niveau=200 ; luminosité=25 ; somme entrante=127634 creation date=2017-10-27 touchdate=2025-07-25 19:05:57.000)
≈ 6084 relations sortantes

  1. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | rel=r_associated | relid=0 | w=43
  2. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:acetazolamide may benefit attacks of vertigo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acetazolamide may benefit attacks of vertigo | rel=r_associated | relid=0 | w=43
  3. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:adult onset of neurologic symptoms has been reported in 1 family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset of neurologic symptoms has been reported in 1 family | rel=r_associated | relid=0 | w=43
  4. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:age of onset from third to sixth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset from third to sixth decade of life | rel=r_associated | relid=0 | w=43
  5. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:allelic disorder to glut1 deficiency syndrome 1 (606777)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | rel=r_associated | relid=0 | w=43
  6. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | rel=r_associated | relid=0 | w=43
  7. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:carrier females may show neuropsychologic impairment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females may show neuropsychologic impairment | rel=r_associated | relid=0 | w=43
  8. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:childhood onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood onset has been reported | rel=r_associated | relid=0 | w=43
  9. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:cold-induced sweating develops late in the first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cold-induced sweating develops late in the first decade | rel=r_associated | relid=0 | w=43
  10. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:contractures most severe by midadolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contractures most severe by midadolescence | rel=r_associated | relid=0 | w=43
  11. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=43
  12. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:death usually occurs in early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs in early infancy | rel=r_associated | relid=0 | w=43
  13. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:disproportionately short limbs often noted at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disproportionately short limbs often noted at birth | rel=r_associated | relid=0 | w=43
  14. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:diurnal fluctuation of symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diurnal fluctuation of symptoms | rel=r_associated | relid=0 | w=43
  15. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:early death (mean age 13 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death (mean age 13 months) | rel=r_associated | relid=0 | w=43
  16. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:facial palsy often transient in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=43
  17. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:females tend to have earlier onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females tend to have earlier onset | rel=r_associated | relid=0 | w=43
  18. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:four patients from 3 families have been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=43
  19. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:genetic heterogeneity (see 166600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 166600) | rel=r_associated | relid=0 | w=43
  20. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:hand involvement improves with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hand involvement improves with age | rel=r_associated | relid=0 | w=43
  21. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:hearing loss may vary in severity and range between ears
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss may vary in severity and range between ears | rel=r_associated | relid=0 | w=43
  22. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:hernia occurs in 22% of adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hernia occurs in 22% of adults | rel=r_associated | relid=0 | w=43
  23. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:high recurrence rate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=43
  24. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:incidence 1 in 20,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1 in 20,000 | rel=r_associated | relid=0 | w=43
  25. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:incidence 1/20,000-1/64,000 male births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1/20,000-1/64,000 male births | rel=r_associated | relid=0 | w=43
  26. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=43
  27. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:infants occasionally mistaken as having down syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infants occasionally mistaken as having down syndrome | rel=r_associated | relid=0 | w=43
  28. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:inheritance may be x-linked dominant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:inheritance may be x-linked dominant | rel=r_associated | relid=0 | w=43
  29. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:loss of independent ambulation due to muscle weakness in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss of independent ambulation due to muscle weakness in adulthood | rel=r_associated | relid=0 | w=43
  30. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:majority are isolated cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=43
  31. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:majority of wilms tumors are sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of wilms tumors are sporadic | rel=r_associated | relid=0 | w=43
  32. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:male to female ratio 7:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male to female ratio 7:1 | rel=r_associated | relid=0 | w=43
  33. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:many cases due to de novo mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many cases due to de novo mutation | rel=r_associated | relid=0 | w=43
  34. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:mean age at onset 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 5 years | rel=r_associated | relid=0 | w=43
  35. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:most become wheelchair-bound late in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most become wheelchair-bound late in life | rel=r_associated | relid=0 | w=43
  36. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=43
  37. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:multiple prenatal fractures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiple prenatal fractures | rel=r_associated | relid=0 | w=43
  38. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:occurs in the absence of trauma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in the absence of trauma | rel=r_associated | relid=0 | w=43
  39. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:one family has been reported (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated february 2014) | rel=r_associated | relid=0 | w=43
  40. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:onset before age 5 years in the absence of instruction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before age 5 years in the absence of instruction | rel=r_associated | relid=0 | w=43
  41. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:onset in childhood or early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or early adulthood | rel=r_associated | relid=0 | w=43
  42. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:onset in first decade (e.g. 180380.0028)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade (e.g. 180380.0028) | rel=r_associated | relid=0 | w=43
  43. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:onset in second half of the first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second half of the first decade of life | rel=r_associated | relid=0 | w=43
  44. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:onset of diabetes in teenage years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of diabetes in teenage years | rel=r_associated | relid=0 | w=43
  45. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:onset of normal pressure hydrocephalus after age 65 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of normal pressure hydrocephalus after age 65 years | rel=r_associated | relid=0 | w=43
  46. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:patients can have multiple seizure types
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients can have multiple seizure types | rel=r_associated | relid=0 | w=43
  47. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:patients may present with either renal or neurologic symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may present with either renal or neurologic symptoms | rel=r_associated | relid=0 | w=43
  48. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:performing laboratory medical director:id:pt:facility:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:performing laboratory medical director:id:pt:facility:nom | rel=r_associated | relid=0 | w=43
  49. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:reason for lab test:type:pt:bld.dot:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reason for lab test:type:pt:bld.dot:nom | rel=r_associated | relid=0 | w=43
  50. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:reported in individuals of jewish moroccan ancestry
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in individuals of jewish moroccan ancestry | rel=r_associated | relid=0 | w=43
  51. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=43
  52. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=43
  53. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  54. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=43
  55. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:signs and symptoms depend on tumor location and activity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:signs and symptoms depend on tumor location and activity | rel=r_associated | relid=0 | w=43
  56. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:sister of affected male siblings had mild learning disabilities and obesity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sister of affected male siblings had mild learning disabilities and obesity | rel=r_associated | relid=0 | w=43
  57. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:some patients do not have thin corpus callosum
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not have thin corpus callosum | rel=r_associated | relid=0 | w=43
  58. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | rel=r_associated | relid=0 | w=43
  59. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:splenectomy increases thrombotic risk in these patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:splenectomy increases thrombotic risk in these patients | rel=r_associated | relid=0 | w=43
  60. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:subtype 3a comprises myoclonus and dementia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subtype 3a comprises myoclonus and dementia | rel=r_associated | relid=0 | w=43
  61. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:three unrelated families have been reported (last curated june 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=43
  62. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:two patients without cardiomyopathy or cataracts have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients without cardiomyopathy or cataracts have been reported | rel=r_associated | relid=0 | w=43
  63. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:two unrelated families have been reported (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=43
  64. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:usually occurs in young adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually occurs in young adults | rel=r_associated | relid=0 | w=43
  65. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 43 / 1 -> en:variable expression of features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expression of features | rel=r_associated | relid=0 | w=43
  66. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:adult onset (45 to 76 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (45 to 76 years) | rel=r_associated | relid=0 | w=42
  67. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:adult onset (before 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (before 50 years) | rel=r_associated | relid=0 | w=42
  68. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | rel=r_associated | relid=0 | w=42
  69. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:anemia may be responsive to iron chelation treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia may be responsive to iron chelation treatment | rel=r_associated | relid=0 | w=42
  70. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:average age of onset 6 months (range birth - 2 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age of onset 6 months (range birth - 2 years) | rel=r_associated | relid=0 | w=42
  71. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:average duration of illness 8 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average duration of illness 8 years | rel=r_associated | relid=0 | w=42
  72. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:based on report of 1 family (last curated december 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 family (last curated december 2012) | rel=r_associated | relid=0 | w=42
  73. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:based on report of 2 consanguineous pakistani families (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | rel=r_associated | relid=0 | w=42
  74. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:cardiac examination is usually unremarkable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=42
  75. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:carrier females show no clinical phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females show no clinical phenotype | rel=r_associated | relid=0 | w=42
  76. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | rel=r_associated | relid=0 | w=42
  77. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:complete manifestation in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complete manifestation in males | rel=r_associated | relid=0 | w=42
  78. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | rel=r_associated | relid=0 | w=42
  79. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=42
  80. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:death about 20 years after symptom onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death about 20 years after symptom onset | rel=r_associated | relid=0 | w=42
  81. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:death may occur in childhood due to respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death may occur in childhood due to respiratory failure | rel=r_associated | relid=0 | w=42
  82. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:death may occur in late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death may occur in late childhood | rel=r_associated | relid=0 | w=42
  83. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:death usually within first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually within first year of life | rel=r_associated | relid=0 | w=42
  84. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:dysarthria, dysphonia, or cough precede onset of ataxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysarthria, dysphonia, or cough precede onset of ataxia | rel=r_associated | relid=0 | w=42
  85. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:fever of unknown origin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fever of unknown origin | rel=r_associated | relid=0 | w=42
  86. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:frequent neonatal sudden death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequent neonatal sudden death | rel=r_associated | relid=0 | w=42
  87. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:green jaundice occurs only in the context of liver failure or obstructive cholestasis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | rel=r_associated | relid=0 | w=42
  88. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:hepatomegaly improves with age and disappears around puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=42
  89. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:highly variable expressivity within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable expressivity within families | rel=r_associated | relid=0 | w=42
  90. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:highly variable phenotype in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype in females | rel=r_associated | relid=0 | w=42
  91. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:increased frequency in finland (prevalence of 1 in 20,000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in finland (prevalence of 1 in 20,000) | rel=r_associated | relid=0 | w=42
  92. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:lesions occur mainly on the pinnae of the ears or on the face
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions occur mainly on the pinnae of the ears or on the face | rel=r_associated | relid=0 | w=42
  93. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:longer disease duration than creutzfeldt-jakob disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:longer disease duration than creutzfeldt-jakob disease | rel=r_associated | relid=0 | w=42
  94. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:majority of patients are stillborn or die before 5 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=42
  95. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=42
  96. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=42
  97. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | rel=r_associated | relid=0 | w=42
  98. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | rel=r_associated | relid=0 | w=42
  99. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:neurologic symptoms are not always present or may appear late
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic symptoms are not always present or may appear late | rel=r_associated | relid=0 | w=42
  100. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:no congenital form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no congenital form | rel=r_associated | relid=0 | w=42
  101. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:one family has been reported (last curated december 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=42
  102. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:one family with 3 affected girls has been reported (as of october 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 3 affected girls has been reported (as of october 2011) | rel=r_associated | relid=0 | w=42
  103. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:one of the 2 most common forms of oca in the world along with oca1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one of the 2 most common forms of oca in the world along with oca1 | rel=r_associated | relid=0 | w=42
  104. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:one pakistani family has been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one pakistani family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=42
  105. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:one patient has been reported (as of curation date may, 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of curation date may, 2013) | rel=r_associated | relid=0 | w=42
  106. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:one patient has been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=42
  107. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:one patient has been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=42
  108. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> 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
  109. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:onset between 13 to 37 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 13 to 37 years | rel=r_associated | relid=0 | w=42
  110. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:onset in adolescence or young adulthood has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in adolescence or young adulthood has been reported | rel=r_associated | relid=0 | w=42
  111. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:onset in first month of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first month of life | rel=r_associated | relid=0 | w=42
  112. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:onset of clinical features around puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of clinical features around puberty | rel=r_associated | relid=0 | w=42
  113. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:onset of dystonia is in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of dystonia is in childhood | rel=r_associated | relid=0 | w=42
  114. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:onset prenatally or at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset prenatally or at birth | rel=r_associated | relid=0 | w=42
  115. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:partially responsive to laser treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:partially responsive to laser treatment | rel=r_associated | relid=0 | w=42
  116. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:patients between 30 and 60 years have discomfort with prolonged standing
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients between 30 and 60 years have discomfort with prolonged standing | rel=r_associated | relid=0 | w=42
  117. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:patients often become wheelchair-bound 3 to 4 decades after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients often become wheelchair-bound 3 to 4 decades after onset | rel=r_associated | relid=0 | w=42
  118. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=42
  119. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:phenotypic overlap with cytochrome c oxidase deficiency (220110)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | rel=r_associated | relid=0 | w=42
  120. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:precipitated by fatigue or alcohol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=42
  121. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:prevalence in the finnish population of 5.8 per million
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in the finnish population of 5.8 per million | rel=r_associated | relid=0 | w=42
  122. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:progressive neurologic deterioration if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive neurologic deterioration if untreated | rel=r_associated | relid=0 | w=42
  123. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:rapid disease progression from ages 40 to 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapid disease progression from ages 40 to 50 years | rel=r_associated | relid=0 | w=42
  124. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=42
  125. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:see also a childhood-onset form (114100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also a childhood-onset form (114100) | rel=r_associated | relid=0 | w=42
  126. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:see also autosomal dominant lutheran-null phenotype (111150)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant lutheran-null phenotype (111150) | rel=r_associated | relid=0 | w=42
  127. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=42
  128. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:some patients may be asymptomatic and have only short telomeres
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may be asymptomatic and have only short telomeres | rel=r_associated | relid=0 | w=42
  129. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:some patients may be clinically asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=42
  130. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | rel=r_associated | relid=0 | w=42
  131. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:spinal involvement improves with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spinal involvement improves with age | rel=r_associated | relid=0 | w=42
  132. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:stage iii, pseudostationary period (onset 2-10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stage iii, pseudostationary period (onset 2-10 years) | rel=r_associated | relid=0 | w=42
  133. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | rel=r_associated | relid=0 | w=42
  134. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:tendency to lighter pigmentation than unaffected relatives
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tendency to lighter pigmentation than unaffected relatives | rel=r_associated | relid=0 | w=42
  135. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=42
  136. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:three patients have been reported (as of november 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=42
  137. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | rel=r_associated | relid=0 | w=42
  138. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:three unrelated families have been reported (as of june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=42
  139. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:three unrelated patients have been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=42
  140. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:two unrelated patients have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported | rel=r_associated | relid=0 | w=42
  141. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 42 / 0.977 -> en:variability in age of onset and severity of disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variability in age of onset and severity of disease | rel=r_associated | relid=0 | w=42
  142. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:1 in 50,000 in korea
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:1 in 50,000 in korea | rel=r_associated | relid=0 | w=41
  143. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:46,xy carriers are unaffected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:46,xy carriers are unaffected | rel=r_associated | relid=0 | w=41
  144. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:adult onset (40 to 60 years old)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (40 to 60 years old) | rel=r_associated | relid=0 | w=41
  145. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:age of onset 5 to 19 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 5 to 19 years | rel=r_associated | relid=0 | w=41
  146. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> 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:two unrelated families have been reported (last curated february 2016) | 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=41
  147. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:alpha-l-iduronidase activity is <1% for all forms of mps1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | rel=r_associated | relid=0 | w=41
  148. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=41
  149. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:autosomal recessive cytochrome b-positive cgd, type ii (233710)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | rel=r_associated | relid=0 | w=41
  150. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:average age of onset 15 years (range 4 to 40)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age of onset 15 years (range 4 to 40) | rel=r_associated | relid=0 | w=41
  151. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:based on report of 1 large dutch pedigree (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 large dutch pedigree (last curated july 2015) | rel=r_associated | relid=0 | w=41
  152. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:blistering and erosions tend to occur on extensor surfaces or over bony prominences
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | rel=r_associated | relid=0 | w=41
  153. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:blistering frequency may decrease with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blistering frequency may decrease with age | rel=r_associated | relid=0 | w=41
  154. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:death often in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often in childhood | rel=r_associated | relid=0 | w=41
  155. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:death usually in infancy due to respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in infancy due to respiratory failure | rel=r_associated | relid=0 | w=41
  156. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:death usually in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in infancy or early childhood | rel=r_associated | relid=0 | w=41
  157. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=41
  158. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:diagnosis occurs between 23 and 33 weeks' gestation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis occurs between 23 and 33 weeks' gestation | rel=r_associated | relid=0 | w=41
  159. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:estimated population frequency of 1 in 13,000-20,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated population frequency of 1 in 13,000-20,000 | rel=r_associated | relid=0 | w=41
  160. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | rel=r_associated | relid=0 | w=41
  161. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity (see enfl1, 600513)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see enfl1, 600513) | rel=r_associated | relid=0 | w=41
  162. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:immunodeficiency is progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:immunodeficiency is progressive | rel=r_associated | relid=0 | w=41
  163. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:incidence of 1 in 20,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 20,000 live births | rel=r_associated | relid=0 | w=41
  164. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:incomplete penetrance (as low as 30% in some cases)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance (as low as 30% in some cases) | rel=r_associated | relid=0 | w=41
  165. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:increased prevalence among smokers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence among smokers | rel=r_associated | relid=0 | w=41
  166. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:lesions grow and spread with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions grow and spread with age | rel=r_associated | relid=0 | w=41
  167. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:liver failure episodes associated with fever
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver failure episodes associated with fever | rel=r_associated | relid=0 | w=41
  168. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:may be triggered by minor head trauma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=41
  169. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:mean age at onset of proximal muscle weakness, 31 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=41
  170. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:mean age of onset in third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=41
  171. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:most patients are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are female | rel=r_associated | relid=0 | w=41
  172. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:neurologic features occur later in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic features occur later in childhood | rel=r_associated | relid=0 | w=41
  173. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:one family has been reported (as of january 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of january 2011) | rel=r_associated | relid=0 | w=41
  174. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:one family has been reported (last curated june 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=41
  175. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:onset 70-90 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 70-90 years | rel=r_associated | relid=0 | w=41
  176. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:onset and diagnosis may occur later (after age 20 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset and diagnosis may occur later (after age 20 years) | rel=r_associated | relid=0 | w=41
  177. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:onset at 5-24 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 5-24 months | rel=r_associated | relid=0 | w=41
  178. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:onset at birth or in first days or life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at birth or in first days or life | rel=r_associated | relid=0 | w=41
  179. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:onset before age 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before age 5 years | rel=r_associated | relid=0 | w=41
  180. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:onset of ataxia in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of ataxia in early childhood | rel=r_associated | relid=0 | w=41
  181. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | rel=r_associated | relid=0 | w=41
  182. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:patients may die in infancy or childhood due to respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=41
  183. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | rel=r_associated | relid=0 | w=41
  184. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:pulsatile headache lasts hours to days
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pulsatile headache lasts hours to days | rel=r_associated | relid=0 | w=41
  185. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | rel=r_associated | relid=0 | w=41
  186. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=41
  187. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=41
  188. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:skin changes are progressive in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin changes are progressive in childhood | rel=r_associated | relid=0 | w=41
  189. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:skin neoplasia may appear later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin neoplasia may appear later in life | rel=r_associated | relid=0 | w=41
  190. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:some female carriers are more mildly affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some female carriers are more mildly affected | rel=r_associated | relid=0 | w=41
  191. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:some patients may develop interictal progressive ataxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may develop interictal progressive ataxia | rel=r_associated | relid=0 | w=41
  192. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:some patients may have a more protracted disorder with neurodegeneration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have a more protracted disorder with neurodegeneration | rel=r_associated | relid=0 | w=41
  193. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:some patients show rapid disease progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show rapid disease progression | rel=r_associated | relid=0 | w=41
  194. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:symptoms benefit from sleep
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms benefit from sleep | rel=r_associated | relid=0 | w=41
  195. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | rel=r_associated | relid=0 | w=41
  196. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 41 / 0.953 -> en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=41
  197. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:99+% of the mutations are fgfr3, g380r (134934.0001)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:99+% of the mutations are fgfr3, g380r (134934.0001) | rel=r_associated | relid=0 | w=40
  198. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:about 50% of mutation carriers are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 50% of mutation carriers are asymptomatic | rel=r_associated | relid=0 | w=40
  199. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:acral hemorrhagic variant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acral hemorrhagic variant | rel=r_associated | relid=0 | w=40
  200. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:all cases presumed de novo mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases presumed de novo mutation | rel=r_associated | relid=0 | w=40
  201. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | rel=r_associated | relid=0 | w=40
  202. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:ambulation is usually maintained during adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ambulation is usually maintained during adulthood | rel=r_associated | relid=0 | w=40
  203. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:approximately 50% of patients have situs inversus
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=40
  204. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:associated with advanced paternal age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=40
  205. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | rel=r_associated | relid=0 | w=40
  206. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | rel=r_associated | relid=0 | w=40
  207. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:benign condition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:benign condition | rel=r_associated | relid=0 | w=40
  208. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:both mutations occurred de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=40
  209. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:cardiac manifestations are often fatal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiac manifestations are often fatal | rel=r_associated | relid=0 | w=40
  210. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:date ultrasound:date:pt:^patient:qn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:date ultrasound:date:pt:^patient:qn | rel=r_associated | relid=0 | w=40
  211. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:death often in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often in early childhood | rel=r_associated | relid=0 | w=40
  212. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:early death in early adulthood often associated with diverticulitis and intestinal perforation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | rel=r_associated | relid=0 | w=40
  213. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:estimated incidence of 1 in 17,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated incidence of 1 in 17,000 | rel=r_associated | relid=0 | w=40
  214. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:female carriers may show intermittent hematuria
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=40
  215. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see hcfp2, 604185)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see hcfp2, 604185) | rel=r_associated | relid=0 | w=40
  216. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see lqt1 192500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see lqt1 192500) | rel=r_associated | relid=0 | w=40
  217. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see mada, 248370)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see mada, 248370) | rel=r_associated | relid=0 | w=40
  218. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (sli2 606712, sli3 607134)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=40
  219. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:good response to steroid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=40
  220. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | rel=r_associated | relid=0 | w=40
  221. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:improvement of abnormal muscle biopsy and cox deficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:improvement of abnormal muscle biopsy and cox deficiency | rel=r_associated | relid=0 | w=40
  222. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:incidence 1 in 6,000 to 1 in 8,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1 in 6,000 to 1 in 8,000 live births | rel=r_associated | relid=0 | w=40
  223. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:incidence of 1 in 100,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=40
  224. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:later onset of ophthalmoparesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset of ophthalmoparesis | rel=r_associated | relid=0 | w=40
  225. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:long duration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:long duration | rel=r_associated | relid=0 | w=40
  226. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:majority of patients develop symptoms within the first few weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of patients develop symptoms within the first few weeks of life | rel=r_associated | relid=0 | w=40
  227. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:may occur cormorbidly with poland syndrome (173800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may occur cormorbidly with poland syndrome (173800) | rel=r_associated | relid=0 | w=40
  228. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:mean age at onset 66.8 years (range 47-77)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=40
  229. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:mean age of onset 30 years (range first to seventh decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 30 years (range first to seventh decade) | rel=r_associated | relid=0 | w=40
  230. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:most common form of congenital methemoglobinemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common form of congenital methemoglobinemia | rel=r_associated | relid=0 | w=40
  231. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:most patients die in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die in childhood | rel=r_associated | relid=0 | w=40
  232. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:motor symptoms develop later (about 5 years into illness)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor symptoms develop later (about 5 years into illness) | rel=r_associated | relid=0 | w=40
  233. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:neurologic features have been diagnosed in ~30% of cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic features have been diagnosed in ~30% of cases | rel=r_associated | relid=0 | w=40
  234. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:occurs much more commonly in women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs much more commonly in women | rel=r_associated | relid=0 | w=40
  235. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=40
  236. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:one patient has been reported (as of march 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of march 2011) | rel=r_associated | relid=0 | w=40
  237. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:onset between 2-5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 2-5 years | rel=r_associated | relid=0 | w=40
  238. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:onset in newborns or infants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in newborns or infants | rel=r_associated | relid=0 | w=40
  239. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:onset may also occur in early infancy, adolescence, or adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset may also occur in early infancy, adolescence, or adulthood | rel=r_associated | relid=0 | w=40
  240. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:onset of diabetes at less than 25 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of diabetes at less than 25 years of age | rel=r_associated | relid=0 | w=40
  241. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:onset of disease after fourth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease after fourth decade of life | rel=r_associated | relid=0 | w=40
  242. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:onset of symptoms in first or second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in first or second decade of life | rel=r_associated | relid=0 | w=40
  243. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=40
  244. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:patients may show both optic neuropathy and dystonia or only 1 disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may show both optic neuropathy and dystonia or only 1 disorder | rel=r_associated | relid=0 | w=40
  245. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:patients often nonambulatory by the mid-twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients often nonambulatory by the mid-twenties | rel=r_associated | relid=0 | w=40
  246. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:pigment does not develop with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pigment does not develop with age | rel=r_associated | relid=0 | w=40
  247. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:risk of sudden death with exertion
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of sudden death with exertion | rel=r_associated | relid=0 | w=40
  248. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | rel=r_associated | relid=0 | w=40
  249. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:see also autosomal form, 146450, and another x-linked form, 300633
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal form, 146450, and another x-linked form, 300633 | rel=r_associated | relid=0 | w=40
  250. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:see also febrile seizures (feb1, 121210)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also febrile seizures (feb1, 121210) | rel=r_associated | relid=0 | w=40
  251. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:seizure frequency decreases during early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizure frequency decreases during early childhood | rel=r_associated | relid=0 | w=40
  252. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=40
  253. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=40
  254. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:severe hearing loss by age 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe hearing loss by age 50 years | rel=r_associated | relid=0 | w=40
  255. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:severity of skin symptoms may vary within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severity of skin symptoms may vary within families | rel=r_associated | relid=0 | w=40
  256. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:short limbs become more apparent during childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:short limbs become more apparent during childhood | rel=r_associated | relid=0 | w=40
  257. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:sib b did not receive mmr vaccination and was asymptomatic in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | rel=r_associated | relid=0 | w=40
  258. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:some patients have only ocular involvement or only oral involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have only ocular involvement or only oral involvement | rel=r_associated | relid=0 | w=40
  259. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> 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:two unrelated families have been reported (last curated february 2016) | 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=40
  260. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:sporadic occurrence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sporadic occurrence | rel=r_associated | relid=0 | w=40
  261. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:spots occur in 95% of patients but can be absent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spots occur in 95% of patients but can be absent | rel=r_associated | relid=0 | w=40
  262. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:symptoms are often responsive to alcohol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms are often responsive to alcohol | rel=r_associated | relid=0 | w=40
  263. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=40
  264. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:three patients from 1 french canadian family have been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients from 1 french canadian family have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=40
  265. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:three patients from 2 unrelated families have been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients from 2 unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=40
  266. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:two unrelated families have been reported (as of october 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (as of october 2010) | rel=r_associated | relid=0 | w=40
  267. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:variable age at onset (range birth to 60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range birth to 60 years) | rel=r_associated | relid=0 | w=40
  268. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 40 / 0.93 -> en:variable severity (in patients with hsan2d)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity (in patients with hsan2d) | rel=r_associated | relid=0 | w=40
  269. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:'shoulder' pattern of temperature-dependent potassium flux (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=39
  270. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | rel=r_associated | relid=0 | w=39
  271. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:accounts for 1-2% of lymphomas in adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accounts for 1-2% of lymphomas in adults | rel=r_associated | relid=0 | w=39
  272. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=39
  273. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> 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:two unrelated families have been reported (last curated february 2016) | 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=39
  274. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:breech position
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:breech position | rel=r_associated | relid=0 | w=39
  275. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:caused by heterozygous germline mutation and second-hit somatic mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by heterozygous germline mutation and second-hit somatic mutation | rel=r_associated | relid=0 | w=39
  276. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:cerebellar ataxia shows onset in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cerebellar ataxia shows onset in young adulthood | rel=r_associated | relid=0 | w=39
  277. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:clinically mimics congenital torch infections (see 251290)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinically mimics congenital torch infections (see 251290) | rel=r_associated | relid=0 | w=39
  278. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:contiguous gene deletion syndrome (in most patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contiguous gene deletion syndrome (in most patients) | rel=r_associated | relid=0 | w=39
  279. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:death due to respiratory insufficiency within minutes to hours after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death due to respiratory insufficiency within minutes to hours after birth | rel=r_associated | relid=0 | w=39
  280. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:diagnosis rarely made before the fourth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis rarely made before the fourth decade of life | rel=r_associated | relid=0 | w=39
  281. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:dopa-unresponsive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dopa-unresponsive | rel=r_associated | relid=0 | w=39
  282. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:dysmorphic features are mild or variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic features are mild or variable | rel=r_associated | relid=0 | w=39
  283. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:fatal outcome if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal outcome if untreated | rel=r_associated | relid=0 | w=39
  284. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:favorable response to intermittent, low-dose steroid therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to intermittent, low-dose steroid therapy | rel=r_associated | relid=0 | w=39
  285. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:favorable response to sodium chloride treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to sodium chloride treatment | rel=r_associated | relid=0 | w=39
  286. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | rel=r_associated | relid=0 | w=39
  287. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:good response to clonazepam
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to clonazepam | rel=r_associated | relid=0 | w=39
  288. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=39
  289. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:high incidence in iraqis and sephardic jewish individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high incidence in iraqis and sephardic jewish individuals | rel=r_associated | relid=0 | w=39
  290. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:homo sapiens do not have a functional l-gulonolactone oxidase gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | rel=r_associated | relid=0 | w=39
  291. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:increased frequency among individuals of east asian descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency among individuals of east asian descent | rel=r_associated | relid=0 | w=39
  292. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:increased male to female ratio (7.5:1)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=39
  293. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:intrafamilial variability in severity of hypothyroidism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variability in severity of hypothyroidism | rel=r_associated | relid=0 | w=39
  294. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:juvenile-onset (before 15 years of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile-onset (before 15 years of age) | rel=r_associated | relid=0 | w=39
  295. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:length of time post dose:time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:length of time post dose:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=39
  296. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=39
  297. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=39
  298. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:mean age at onset 11.4 years (range 4 to 35)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 11.4 years (range 4 to 35) | rel=r_associated | relid=0 | w=39
  299. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:median age of onset of pancytopenia - 10 years (range 1-32 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | rel=r_associated | relid=0 | w=39
  300. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:neonatal death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal death | rel=r_associated | relid=0 | w=39
  301. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:normal alleles contain 6 to 28 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal alleles contain 6 to 28 repeats | rel=r_associated | relid=0 | w=39
  302. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one consanguineous arab family has been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous arab family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=39
  303. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one consanguineous family has been reported (last curated may 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=39
  304. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one family from the old order amish has been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family from the old order amish has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=39
  305. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one family has been reported (as of june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of june 2011) | rel=r_associated | relid=0 | w=39
  306. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one family has been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=39
  307. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one family of puerto rican descent has been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of puerto rican descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=39
  308. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> 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:two unrelated families have been reported (last curated february 2016) | 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=39
  309. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one japanese family has been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one japanese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=39
  310. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:one six-generation family from northern china has been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one six-generation family from northern china has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=39
  311. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset - present at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset - present at birth | rel=r_associated | relid=0 | w=39
  312. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset at 6-36 hours of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 6-36 hours of life | rel=r_associated | relid=0 | w=39
  313. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset before 18 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before 18 months of age | rel=r_associated | relid=0 | w=39
  314. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset in early adulthood (average 26 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early adulthood (average 26 years) | rel=r_associated | relid=0 | w=39
  315. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset in first weeks to months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first weeks to months of life | rel=r_associated | relid=0 | w=39
  316. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset in the second or third decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the second or third decade of life | rel=r_associated | relid=0 | w=39
  317. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | rel=r_associated | relid=0 | w=39
  318. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset of hematologic or cns tumors in the first or second decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hematologic or cns tumors in the first or second decades of life | rel=r_associated | relid=0 | w=39
  319. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset of symptoms within the first 2 decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms within the first 2 decades of life | rel=r_associated | relid=0 | w=39
  320. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset second decade of life | rel=r_associated | relid=0 | w=39
  321. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:onset usually in childhood (range 6 months to 16 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood (range 6 months to 16 years) | rel=r_associated | relid=0 | w=39
  322. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:patients may become ventilator-dependent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may become ventilator-dependent | rel=r_associated | relid=0 | w=39
  323. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:prevalence in slovenia is 1 in 43,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in slovenia is 1 in 43,000 | rel=r_associated | relid=0 | w=39
  324. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:recurrent bacterial infections beginning in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent bacterial infections beginning in childhood | rel=r_associated | relid=0 | w=39
  325. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=39
  326. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:see also lethal neonatal (608836) and adult forms (255110)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also lethal neonatal (608836) and adult forms (255110) | rel=r_associated | relid=0 | w=39
  327. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:some patients never gain ambulation or become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients never gain ambulation or become wheelchair-bound | rel=r_associated | relid=0 | w=39
  328. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:two families have been reported (as of curation date april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (as of curation date april 2014) | rel=r_associated | relid=0 | w=39
  329. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:two unrelated families have been reported (last curated may 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=39
  330. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:variable age at onset (range birth to teenage years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range birth to teenage years) | rel=r_associated | relid=0 | w=39
  331. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:variable age at onset, usually first or second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, usually first or second decade | rel=r_associated | relid=0 | w=39
  332. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:variable age of onset (infancy to 63 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (infancy to 63 years) | rel=r_associated | relid=0 | w=39
  333. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:variable phenotype depending on residual enzyme activity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype depending on residual enzyme activity | rel=r_associated | relid=0 | w=39
  334. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:waddling gait
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:waddling gait | rel=r_associated | relid=0 | w=39
  335. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 39 / 0.907 -> en:wide clinical variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide clinical variability | rel=r_associated | relid=0 | w=39
  336. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:87% patients are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:87% patients are female | rel=r_associated | relid=0 | w=38
  337. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:adult onset may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset may occur | rel=r_associated | relid=0 | w=38
  338. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:affected males are infertile, whereas affected females have recurrent pregnancy loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | rel=r_associated | relid=0 | w=38
  339. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:all reported cases have de novo mutations (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all reported cases have de novo mutations (last curated october 2014) | rel=r_associated | relid=0 | w=38
  340. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:allelic to neurofibromatosis-1 (nf1, 162200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to neurofibromatosis-1 (nf1, 162200) | rel=r_associated | relid=0 | w=38
  341. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:based on one pakistani family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=38
  342. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:based on report of 1 consanguineous turkish family (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 consanguineous turkish family (last curated june 2014) | rel=r_associated | relid=0 | w=38
  343. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:based on report of 2 unrelated girls (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 unrelated girls (last curated august 2015) | rel=r_associated | relid=0 | w=38
  344. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:blisters are precipitated by minor skin trauma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=38
  345. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:both recessive and dominant inheritance have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both recessive and dominant inheritance have been reported | rel=r_associated | relid=0 | w=38
  346. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> 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:two unrelated families have been reported (last curated february 2016) | 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=38
  347. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:carcinomas tend to develop in mid or late adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carcinomas tend to develop in mid or late adulthood | rel=r_associated | relid=0 | w=38
  348. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:carrier females have arthralgias in middle age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females have arthralgias in middle age | rel=r_associated | relid=0 | w=38
  349. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:caused by inheritance of the mutation on the paternal allele (imprinting)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=38
  350. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | rel=r_associated | relid=0 | w=38
  351. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=38
  352. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:death at 13 to 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death at 13 to 30 years | rel=r_associated | relid=0 | w=38
  353. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:death in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in early childhood | rel=r_associated | relid=0 | w=38
  354. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:death in the first months or years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in the first months or years of life | rel=r_associated | relid=0 | w=38
  355. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:decreased fertility
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:decreased fertility | rel=r_associated | relid=0 | w=38
  356. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> 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:two unrelated families have been reported (last curated february 2016) | 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=38
  357. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:early death may occur without bone marrow transplant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death may occur without bone marrow transplant | rel=r_associated | relid=0 | w=38
  358. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:excessive skin picking of sores
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=38
  359. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:genetic heterogeneity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity | rel=r_associated | relid=0 | w=38
  360. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:genetic heterogeneity (see bscl2, 269700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see bscl2, 269700) | rel=r_associated | relid=0 | w=38
  361. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:genetic heterogeneity (see, e.g., 608631, 300494, 300497)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | rel=r_associated | relid=0 | w=38
  362. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:has been described in patients of caucasus jewish origin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:has been described in patients of caucasus jewish origin | rel=r_associated | relid=0 | w=38
  363. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:highly variable frequency and severity of attacks
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=38
  364. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | rel=r_associated | relid=0 | w=38
  365. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:in general, men have more severe disease than women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=38
  366. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:incidence ranges from 1 in 8,500 to 1 in 12,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | rel=r_associated | relid=0 | w=38
  367. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:lethal in 40% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lethal in 40% of patients | rel=r_associated | relid=0 | w=38
  368. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:male to female ratio 4:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=38
  369. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:median onset of proteinuria is 18 years (range 10 to 21)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median onset of proteinuria is 18 years (range 10 to 21) | rel=r_associated | relid=0 | w=38
  370. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:minimal response to surfactant treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:minimal response to surfactant treatment | rel=r_associated | relid=0 | w=38
  371. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:moderate age-related improvement of pancreatic function
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:moderate age-related improvement of pancreatic function | rel=r_associated | relid=0 | w=38
  372. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:most patients show early childhood onset after a period of normal development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients show early childhood onset after a period of normal development | rel=r_associated | relid=0 | w=38
  373. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:multiple congenital anomalies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiple congenital anomalies | rel=r_associated | relid=0 | w=38
  374. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:muscle weakness increases with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:muscle weakness increases with age | rel=r_associated | relid=0 | w=38
  375. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:one consanguineous turkish family has been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous turkish family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=38
  376. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:one lebanese family has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=38
  377. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:onset after age 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset after age 40 years | rel=r_associated | relid=0 | w=38
  378. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:onset between ages 2 and 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between ages 2 and 5 years | rel=r_associated | relid=0 | w=38
  379. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:onset in childhood (usually before age 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (usually before age 5 years) | rel=r_associated | relid=0 | w=38
  380. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:onset usually before age 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually before age 40 years | rel=r_associated | relid=0 | w=38
  381. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | rel=r_associated | relid=0 | w=38
  382. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:patients may have seizures only, dyskinesia only, or both
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may have seizures only, dyskinesia only, or both | rel=r_associated | relid=0 | w=38
  383. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:patients present with groin pain
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients present with groin pain | rel=r_associated | relid=0 | w=38
  384. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:prevalence of sleep terrors about 3% in children
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of sleep terrors about 3% in children | rel=r_associated | relid=0 | w=38
  385. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:progression of phenotype with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progression of phenotype with age | rel=r_associated | relid=0 | w=38
  386. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:seizures are usually intractable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are usually intractable | rel=r_associated | relid=0 | w=38
  387. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:seizures usually remit in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures usually remit in adolescence | rel=r_associated | relid=0 | w=38
  388. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=38
  389. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:some carrier females may manifest mild symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some carrier females may manifest mild symptoms | rel=r_associated | relid=0 | w=38
  390. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:some patients develop diabetes mellitus as adolescents
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients develop diabetes mellitus as adolescents | rel=r_associated | relid=0 | w=38
  391. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:some patients exhibit features of more than 1 type of cardiomyopathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients exhibit features of more than 1 type of cardiomyopathy | rel=r_associated | relid=0 | w=38
  392. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:surviving infants develop severe nonbullous ichthyosiform erythroderma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | rel=r_associated | relid=0 | w=38
  393. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:susceptibility to infections start in the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:susceptibility to infections start in the first year of life | rel=r_associated | relid=0 | w=38
  394. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:three unrelated patients have been reported (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=38
  395. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=38
  396. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:two sibs have been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=38
  397. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:upper limb involvement usually occurs later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:upper limb involvement usually occurs later | rel=r_associated | relid=0 | w=38
  398. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:usually asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually asymptomatic | rel=r_associated | relid=0 | w=38
  399. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:variable age of onset (range 4 to 47 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (range 4 to 47 years) | rel=r_associated | relid=0 | w=38
  400. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:variable phenotypic expression within same individual in each eye (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotypic expression within same individual in each eye (in some patients) | rel=r_associated | relid=0 | w=38
  401. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 38 / 0.884 -> en:wheelchair use by 10-30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wheelchair use by 10-30 years | rel=r_associated | relid=0 | w=38
  402. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:94% develop hypertension at 18 years of age or less
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:94% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=37
  403. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:absence seizures usually remit by puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:absence seizures usually remit by puberty | rel=r_associated | relid=0 | w=37
  404. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:acquired autoimmune disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acquired autoimmune disorder | rel=r_associated | relid=0 | w=37
  405. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:adult onset (mean 60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (mean 60 years) | rel=r_associated | relid=0 | w=37
  406. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:adult onset (range 30 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 30 to 50 years) | rel=r_associated | relid=0 | w=37
  407. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | rel=r_associated | relid=0 | w=37
  408. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:allelic disorder to niemann-pick disease type a (257200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to niemann-pick disease type a (257200) | rel=r_associated | relid=0 | w=37
  409. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:allelic to acrokeratosis verruciformis (101900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to acrokeratosis verruciformis (101900) | rel=r_associated | relid=0 | w=37
  410. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:allelic to senior-loken syndrome 4 (606996)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to senior-loken syndrome 4 (606996) | rel=r_associated | relid=0 | w=37
  411. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:antibodies can develop after pregnancy or transfusion
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:antibodies can develop after pregnancy or transfusion | rel=r_associated | relid=0 | w=37
  412. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:approximately 60% of cases are due to somatic mutations and are unilateral
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 60% of cases are due to somatic mutations and are unilateral | rel=r_associated | relid=0 | w=37
  413. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:asymptomatic heterozygotes susceptible to lead toxicity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:asymptomatic heterozygotes susceptible to lead toxicity | rel=r_associated | relid=0 | w=37
  414. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:autoimmune manifestations are present in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autoimmune manifestations are present in some patients | rel=r_associated | relid=0 | w=37
  415. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:autosomal recessive inheritance can occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance can occur | rel=r_associated | relid=0 | w=37
  416. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | rel=r_associated | relid=0 | w=37
  417. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:bone anomalies may be seen on prenatal ultrasound (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | rel=r_associated | relid=0 | w=37
  418. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=37
  419. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:death secondary to renal failure, cardiac or cerebrovascular disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=37
  420. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:death usually in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=37
  421. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:dysmorphic features were only reported in 1 patient
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic features were only reported in 1 patient | rel=r_associated | relid=0 | w=37
  422. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:electrolyte imbalances can mimic renal bartter syndrome (601678)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | rel=r_associated | relid=0 | w=37
  423. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:episodes are triggered by hunger, fatigue, cold, stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes are triggered by hunger, fatigue, cold, stress | rel=r_associated | relid=0 | w=37
  424. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:family b had a milder phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:family b had a milder phenotype | rel=r_associated | relid=0 | w=37
  425. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:first described in gypsy group from bulgaria
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:first described in gypsy group from bulgaria | rel=r_associated | relid=0 | w=37
  426. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:flunarizine treatment may be beneficial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:flunarizine treatment may be beneficial | rel=r_associated | relid=0 | w=37
  427. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see 610168)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 610168) | rel=r_associated | relid=0 | w=37
  428. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see npc1, 257220)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see npc1, 257220) | rel=r_associated | relid=0 | w=37
  429. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:hearing loss and ocular findings are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss and ocular findings are variable | rel=r_associated | relid=0 | w=37
  430. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:high frequency in the french-canadian population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in the french-canadian population | rel=r_associated | relid=0 | w=37
  431. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:high infant mortality due to malnutrition as well as complications of parenteral nutrition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | rel=r_associated | relid=0 | w=37
  432. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:increased frequency in ashkenazi jewish population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in ashkenazi jewish population | rel=r_associated | relid=0 | w=37
  433. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:increased prevalence among women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence among women | rel=r_associated | relid=0 | w=37
  434. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:intracellular accumulation of material may not always be apparent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intracellular accumulation of material may not always be apparent | rel=r_associated | relid=0 | w=37
  435. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:intrafamilial variability in degree of nail involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variability in degree of nail involvement | rel=r_associated | relid=0 | w=37
  436. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:less severe phenotype in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:less severe phenotype in females | rel=r_associated | relid=0 | w=37
  437. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:may be asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=37
  438. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:mechanical ventilation may be required
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mechanical ventilation may be required | rel=r_associated | relid=0 | w=37
  439. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:more common in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in males | rel=r_associated | relid=0 | w=37
  440. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:moroccan jewish and ashkenazi jewish families have been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:moroccan jewish and ashkenazi jewish families have been described | rel=r_associated | relid=0 | w=37
  441. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=37
  442. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=37
  443. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:one amish family has been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one amish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=37
  444. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:one pakistani family reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one pakistani family reported (last curated november 2012) | rel=r_associated | relid=0 | w=37
  445. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:onset 3rd to 4th decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 3rd to 4th decade of life | rel=r_associated | relid=0 | w=37
  446. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:onset in childhood or adolescence (range 6 to 15 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or adolescence (range 6 to 15 years) | rel=r_associated | relid=0 | w=37
  447. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:onset in early first decade, although some patients have onset at birth or early in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early first decade, although some patients have onset at birth or early in infancy | rel=r_associated | relid=0 | w=37
  448. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:onset in first months or years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first months or years of life | rel=r_associated | relid=0 | w=37
  449. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:onset of symptoms age 5-30
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms age 5-30 | rel=r_associated | relid=0 | w=37
  450. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=37
  451. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:presentation in childhood includes waddling gait and knee pain/stiffness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation in childhood includes waddling gait and knee pain/stiffness | rel=r_associated | relid=0 | w=37
  452. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:recurrent episodes of liver failure during intercurrent infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=37
  453. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=37
  454. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:severe form with onset at 3 to 4 months of age and severe developmental delay
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe form with onset at 3 to 4 months of age and severe developmental delay | rel=r_associated | relid=0 | w=37
  455. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:treatment with bh4 is effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with bh4 is effective | rel=r_associated | relid=0 | w=37
  456. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:two japanese brothers have been reported (as of september 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two japanese brothers have been reported (as of september 2011) | rel=r_associated | relid=0 | w=37
  457. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | rel=r_associated | relid=0 | w=37
  458. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:usual onset before age 6 years and death by age 20
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usual onset before age 6 years and death by age 20 | rel=r_associated | relid=0 | w=37
  459. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> 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:two unrelated families have been reported (last curated february 2016) | 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=37
  460. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 37 / 0.86 -> en:variable clinical phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable clinical phenotype | rel=r_associated | relid=0 | w=37
  461. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:(2) juvenile or adolescent nephropathic (219900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(2) juvenile or adolescent nephropathic (219900) | rel=r_associated | relid=0 | w=36
  462. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:adult-onset is referred to as small fiber neuropathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult-onset is referred to as small fiber neuropathy | rel=r_associated | relid=0 | w=36
  463. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:age of onset 5 to 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 5 to 40 years | rel=r_associated | relid=0 | w=36
  464. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | rel=r_associated | relid=0 | w=36
  465. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | rel=r_associated | relid=0 | w=36
  466. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=36
  467. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:allelic to pendred syndrome, deafness with goiter (274600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to pendred syndrome, deafness with goiter (274600) | rel=r_associated | relid=0 | w=36
  468. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:attack frequency may occur several times per week to once per year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attack frequency may occur several times per week to once per year | rel=r_associated | relid=0 | w=36
  469. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:atypical hemolytic-uremic syndrome shows onset in first 12 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | rel=r_associated | relid=0 | w=36
  470. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:blood glucose monitor with integrated voice synthesizer
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blood glucose monitor with integrated voice synthesizer | rel=r_associated | relid=0 | w=36
  471. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:cases reported in the old order amish and one japanese family (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cases reported in the old order amish and one japanese family (last curated april 2014) | rel=r_associated | relid=0 | w=36
  472. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=36
  473. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:contiguous gene deletion syndrome of 5q31
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contiguous gene deletion syndrome of 5q31 | rel=r_associated | relid=0 | w=36
  474. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:death in utero
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in utero | rel=r_associated | relid=0 | w=36
  475. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:death usually in first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=36
  476. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:early death (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death (in some patients) | rel=r_associated | relid=0 | w=36
  477. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | rel=r_associated | relid=0 | w=36
  478. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:evidence of systemic iron overload seen in 1 family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:evidence of systemic iron overload seen in 1 family | rel=r_associated | relid=0 | w=36
  479. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:favorable response to high-dose steroids
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to high-dose steroids | rel=r_associated | relid=0 | w=36
  480. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | rel=r_associated | relid=0 | w=36
  481. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | rel=r_associated | relid=0 | w=36
  482. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | rel=r_associated | relid=0 | w=36
  483. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see 159900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 159900) | rel=r_associated | relid=0 | w=36
  484. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:hearing loss is progressive and initially affects high-frequencies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss is progressive and initially affects high-frequencies | rel=r_associated | relid=0 | w=36
  485. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:incidence 5-50 per million (children) and 10-40 per million (adults)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 5-50 per million (children) and 10-40 per million (adults) | rel=r_associated | relid=0 | w=36
  486. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:intracellular accumulation of material can occur in neuronal and nonneuronal cells
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=36
  487. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:joint dislocations become less frequent with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:joint dislocations become less frequent with age | rel=r_associated | relid=0 | w=36
  488. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:late-adult onset (fifth to sixth decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=36
  489. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:long headache duration (greater than 12 hours)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=36
  490. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:may be present in asymptomatic adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be present in asymptomatic adults | rel=r_associated | relid=0 | w=36
  491. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:more common in men than women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in men than women | rel=r_associated | relid=0 | w=36
  492. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:most patients die in the first months or years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die in the first months or years of life | rel=r_associated | relid=0 | w=36
  493. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:most patients have no bleeding abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients have no bleeding abnormalities | rel=r_associated | relid=0 | w=36
  494. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:multiple gene loci involved in causation of schizophrenia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiple gene loci involved in causation of schizophrenia | rel=r_associated | relid=0 | w=36
  495. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:n-myc oncogene (164840) amplification is associated with poor prognosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:n-myc oncogene (164840) amplification is associated with poor prognosis | rel=r_associated | relid=0 | w=36
  496. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:neuropathy becomes apparent in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neuropathy becomes apparent in childhood | rel=r_associated | relid=0 | w=36
  497. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:normal sweat electrolytes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal sweat electrolytes | rel=r_associated | relid=0 | w=36
  498. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:one patient has been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=36
  499. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:one patient with limited clinical information has been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with limited clinical information has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=36
  500. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:onset around puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset around puberty | rel=r_associated | relid=0 | w=36
  501. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:onset at birth or early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at birth or early infancy | rel=r_associated | relid=0 | w=36
  502. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:onset between 6 and 16 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 6 and 16 years of age | rel=r_associated | relid=0 | w=36
  503. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:onset in first decade (average 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade (average 5 years) | rel=r_associated | relid=0 | w=36
  504. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:onset of alopecia in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of alopecia in infancy | rel=r_associated | relid=0 | w=36
  505. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:onset of deafness in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of deafness in early childhood | rel=r_associated | relid=0 | w=36
  506. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:onset of symptoms in fifth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in fifth decade | rel=r_associated | relid=0 | w=36
  507. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:patients do not exhibit skin pigmentation changes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients do not exhibit skin pigmentation changes | rel=r_associated | relid=0 | w=36
  508. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:performing laboratory:addr:pt:facility:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:performing laboratory:addr:pt:facility:nom | rel=r_associated | relid=0 | w=36
  509. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | rel=r_associated | relid=0 | w=36
  510. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:retinal degeneration not always present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:retinal degeneration not always present | rel=r_associated | relid=0 | w=36
  511. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=36
  512. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=36
  513. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=36
  514. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:severe involvement of legs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe involvement of legs | rel=r_associated | relid=0 | w=36
  515. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:skin blistering and photosensitivity improve in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin blistering and photosensitivity improve in adulthood | rel=r_associated | relid=0 | w=36
  516. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:skin changes have onset in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin changes have onset in childhood | rel=r_associated | relid=0 | w=36
  517. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:slightly increased female:male ratio (1.4:1 to 2:1)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slightly increased female:male ratio (1.4:1 to 2:1) | rel=r_associated | relid=0 | w=36
  518. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:some patients can be treated with large doses of vitamin d and calcium
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients can be treated with large doses of vitamin d and calcium | rel=r_associated | relid=0 | w=36
  519. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:some patients show no bleeding abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show no bleeding abnormalities | rel=r_associated | relid=0 | w=36
  520. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | rel=r_associated | relid=0 | w=36
  521. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:two families have been reported (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=36
  522. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:two families have been reported (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=36
  523. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 36 / 0.837 -> en:variable age of onset (7-59 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (7-59 years) | rel=r_associated | relid=0 | w=36
  524. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:'variant' form of x-linked cgd retains residual cytochrome b(-245)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | rel=r_associated | relid=0 | w=35
  525. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:2-3% due to imprinting defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:2-3% due to imprinting defects | rel=r_associated | relid=0 | w=35
  526. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | rel=r_associated | relid=0 | w=35
  527. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> 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:two unrelated families have been reported (last curated february 2016) | 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=35
  528. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:5-10% of all wilms tumor are bilateral
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:5-10% of all wilms tumor are bilateral | rel=r_associated | relid=0 | w=35
  529. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:85-90% with manifestations in first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:85-90% with manifestations in first months of life | rel=r_associated | relid=0 | w=35
  530. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:98% of finnish cases due to one mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:98% of finnish cases due to one mutation | rel=r_associated | relid=0 | w=35
  531. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:a milder form has also been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=35
  532. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | rel=r_associated | relid=0 | w=35
  533. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:a subset of patients are responsive to vitamin b12 therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subset of patients are responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=35
  534. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | rel=r_associated | relid=0 | w=35
  535. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:about 50% of patients have intellectual disability and/or hydrocephalus
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 50% of patients have intellectual disability and/or hydrocephalus | rel=r_associated | relid=0 | w=35
  536. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:absence of both inner and outer dynein arms of cilia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:absence of both inner and outer dynein arms of cilia | rel=r_associated | relid=0 | w=35
  537. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | rel=r_associated | relid=0 | w=35
  538. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:accounts for approximately 5% of the epilepsies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accounts for approximately 5% of the epilepsies | rel=r_associated | relid=0 | w=35
  539. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:acquired protein c deficiency seen in liver disease, dic, and following surgery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | rel=r_associated | relid=0 | w=35
  540. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:adult onset (37 to 57 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (37 to 57 years) | rel=r_associated | relid=0 | w=35
  541. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:adult onset (after age 35 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (after age 35 years) | rel=r_associated | relid=0 | w=35
  542. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:adult onset (mid-forties)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (mid-forties) | rel=r_associated | relid=0 | w=35
  543. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:adult onset, usually 30's to 40's, but up to early 60's
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset, usually 30's to 40's, but up to early 60's | rel=r_associated | relid=0 | w=35
  544. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | rel=r_associated | relid=0 | w=35
  545. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  546. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:affected individuals are highly prone to burn-related injuries
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals are highly prone to burn-related injuries | rel=r_associated | relid=0 | w=35
  547. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:age at menarche:time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at menarche:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=35
  548. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:age at onset 15 to 25 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset 15 to 25 years | rel=r_associated | relid=0 | w=35
  549. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:age of onset 2-8 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 2-8 months | rel=r_associated | relid=0 | w=35
  550. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:age of onset 23-59 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 23-59 years | rel=r_associated | relid=0 | w=35
  551. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:age of onset/diagnosis 12-35 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=35
  552. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:all reported mutations have occurred de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all reported mutations have occurred de novo | rel=r_associated | relid=0 | w=35
  553. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | rel=r_associated | relid=0 | w=35
  554. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to charcot-marie-tooth disease type 1a (118220)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | rel=r_associated | relid=0 | w=35
  555. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to child syndrome (308050)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to child syndrome (308050) | rel=r_associated | relid=0 | w=35
  556. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to early-onset sarcoidosis (609464)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=35
  557. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | rel=r_associated | relid=0 | w=35
  558. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | rel=r_associated | relid=0 | w=35
  559. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | rel=r_associated | relid=0 | w=35
  560. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=35
  561. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to rett syndrome (312750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to rett syndrome (312750) | rel=r_associated | relid=0 | w=35
  562. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to rippling muscle disease (rmd, 606072)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to rippling muscle disease (rmd, 606072) | rel=r_associated | relid=0 | w=35
  563. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  564. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to type iv glycogen storage disease (232500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to type iv glycogen storage disease (232500) | rel=r_associated | relid=0 | w=35
  565. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | rel=r_associated | relid=0 | w=35
  566. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> 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:two unrelated families have been reported (last curated february 2016) | 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=35
  567. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to acrocapitofemoral dysplasia (607778)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to acrocapitofemoral dysplasia (607778) | rel=r_associated | relid=0 | w=35
  568. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=35
  569. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | rel=r_associated | relid=0 | w=35
  570. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to dyggve-melchior-clausen disease (223800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=35
  571. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | rel=r_associated | relid=0 | w=35
  572. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to infantile sialic acid storage disorder (269920)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to infantile sialic acid storage disorder (269920) | rel=r_associated | relid=0 | w=35
  573. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to naxos disease (601214)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to naxos disease (601214) | rel=r_associated | relid=0 | w=35
  574. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to roberts syndrome (268300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to roberts syndrome (268300) | rel=r_associated | relid=0 | w=35
  575. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  576. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:allelic to usher syndrome, type id (601067)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to usher syndrome, type id (601067) | rel=r_associated | relid=0 | w=35
  577. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:also called 'heterozygous osmed' and 'autosomal dominant osmed'
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | rel=r_associated | relid=0 | w=35
  578. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:anemia is transfusion-dependent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia is transfusion-dependent | rel=r_associated | relid=0 | w=35
  579. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:antenatal onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:antenatal onset | rel=r_associated | relid=0 | w=35
  580. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:approximately 35% of patients die during the first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 35% of patients die during the first 2 years of life | rel=r_associated | relid=0 | w=35
  581. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity | rel=r_associated | relid=0 | w=35
  582. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:approximately half of cases are due to unbalanced rearrangements, which may be familial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | rel=r_associated | relid=0 | w=35
  583. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:as of 2009, one family has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:as of 2009, one family has been reported | rel=r_associated | relid=0 | w=35
  584. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:associated with increasing age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with increasing age | rel=r_associated | relid=0 | w=35
  585. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | rel=r_associated | relid=0 | w=35
  586. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:attacks may present during or after sleep
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
  587. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:autosomal dominant transmission has been rarely reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant transmission has been rarely reported | rel=r_associated | relid=0 | w=35
  588. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:autosomal recessive cytochrome b-positive cgd, type i
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive cytochrome b-positive cgd, type i | rel=r_associated | relid=0 | w=35
  589. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:autosomal recessive inheritance with earlier onset has been reported in 3 patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=35
  590. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:average age at onset 31 years (range 7 to 54)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset 31 years (range 7 to 54) | rel=r_associated | relid=0 | w=35
  591. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on 1 family (last curated september 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=35
  592. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on a report of 2 unrelated saudi patients (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | rel=r_associated | relid=0 | w=35
  593. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on one 4-generation german family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one 4-generation german family (last curated august 2015) | rel=r_associated | relid=0 | w=35
  594. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on report of 1 family of german ancestry (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 family of german ancestry (last curated december 2014) | rel=r_associated | relid=0 | w=35
  595. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 siblings and 1 patient (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 siblings and 1 patient (last curated december 2014) | rel=r_associated | relid=0 | w=35
  596. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 turkish sisters (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 turkish sisters (last curated july 2015) | rel=r_associated | relid=0 | w=35
  597. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 unrelated patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 unrelated patients | rel=r_associated | relid=0 | w=35
  598. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 unrelated patients (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 unrelated patients (last curated may 2015) | rel=r_associated | relid=0 | w=35
  599. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on report of 4 unrelated patients (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 4 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=35
  600. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on report of a chinese father and son (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of a chinese father and son (last curated may 2015) | rel=r_associated | relid=0 | w=35
  601. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:based on the report of one consanguineous pakistani family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on the report of one consanguineous pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=35
  602. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> 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:two unrelated families have been reported (last curated february 2016) | 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=35
  603. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:begins in hands or feet, later generalized
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:begins in hands or feet, later generalized | rel=r_associated | relid=0 | w=35
  604. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:benign trait
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:benign trait | rel=r_associated | relid=0 | w=35
  605. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:bimodal age of onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bimodal age of onset | rel=r_associated | relid=0 | w=35
  606. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:birth date:time stamp -- date and time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=35
  607. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:birth rate of 7.6 per 1,000,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:birth rate of 7.6 per 1,000,000 | rel=r_associated | relid=0 | w=35
  608. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:blistering tends to improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blistering tends to improve with age | rel=r_associated | relid=0 | w=35
  609. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:body habitus becomes apparent in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:body habitus becomes apparent in childhood | rel=r_associated | relid=0 | w=35
  610. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:both autosomal dominant and autosomal recessive inheritance has been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=35
  611. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | rel=r_associated | relid=0 | w=35
  612. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:c10orf2 mutations account for approximately 35% of all peo cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:c10orf2 mutations account for approximately 35% of all peo cases | rel=r_associated | relid=0 | w=35
  613. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:can be asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can be asymptomatic | rel=r_associated | relid=0 | w=35
  614. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | rel=r_associated | relid=0 | w=35
  615. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  616. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | rel=r_associated | relid=0 | w=35
  617. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | rel=r_associated | relid=0 | w=35
  618. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:carrier females show no phenotypic abnormalities, but may have learning difficulties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=35
  619. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:carrier frequency in finland is 1 in 230
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier frequency in finland is 1 in 230 | rel=r_associated | relid=0 | w=35
  620. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:carrier mothers have urine biochemistry profiles identical to those of their sons
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier mothers have urine biochemistry profiles identical to those of their sons | rel=r_associated | relid=0 | w=35
  621. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:carrier rate of 1 in 11 among old order amish
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier rate of 1 in 11 among old order amish | rel=r_associated | relid=0 | w=35
  622. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  623. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | rel=r_associated | relid=0 | w=35
  624. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:central hypoventilation occurs late in the disease and is often fatal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:central hypoventilation occurs late in the disease and is often fatal | rel=r_associated | relid=0 | w=35
  625. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | rel=r_associated | relid=0 | w=35
  626. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:cheerful disposition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cheerful disposition | rel=r_associated | relid=0 | w=35
  627. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:childhood onset rarely occurs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood onset rarely occurs | rel=r_associated | relid=0 | w=35
  628. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:chronic disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chronic disease | rel=r_associated | relid=0 | w=35
  629. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | rel=r_associated | relid=0 | w=35
  630. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical and pathologic features of both demyelinating and axonal cmt
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical and pathologic features of both demyelinating and axonal cmt | rel=r_associated | relid=0 | w=35
  631. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical features based on 1 reported family (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical features based on 1 reported family (last curated august 2013) | rel=r_associated | relid=0 | w=35
  632. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical features present only if mutation inherited on paternal allele
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical features present only if mutation inherited on paternal allele | rel=r_associated | relid=0 | w=35
  633. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  634. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | rel=r_associated | relid=0 | w=35
  635. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | rel=r_associated | relid=0 | w=35
  636. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinical severity varies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical severity varies | rel=r_associated | relid=0 | w=35
  637. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clinically unaffected heterozygotes may show changes on electroretinography
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinically unaffected heterozygotes may show changes on electroretinography | rel=r_associated | relid=0 | w=35
  638. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:clubfoot is bilateral in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clubfoot is bilateral in most patients | rel=r_associated | relid=0 | w=35
  639. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | rel=r_associated | relid=0 | w=35
  640. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:color vision defects may not be part of the phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=35
  641. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:common in japan and other asian populations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:common in japan and other asian populations | rel=r_associated | relid=0 | w=35
  642. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:complete recovery during intervals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complete recovery during intervals | rel=r_associated | relid=0 | w=35
  643. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | rel=r_associated | relid=0 | w=35
  644. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:considered a normal variant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered a normal variant | rel=r_associated | relid=0 | w=35
  645. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:coronary artery disease or myocardial infarction in fifth or sixth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | rel=r_associated | relid=0 | w=35
  646. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:cutaneous leiomyomas increase in number over time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cutaneous leiomyomas increase in number over time | rel=r_associated | relid=0 | w=35
  647. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:de novo mutation (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutation (in some patients) | rel=r_associated | relid=0 | w=35
  648. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:de novo mutation in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutation in most patients | rel=r_associated | relid=0 | w=35
  649. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death at 10 to 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death at 10 to 15 years | rel=r_associated | relid=0 | w=35
  650. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death before age 40
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death before age 40 | rel=r_associated | relid=0 | w=35
  651. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in childhood may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood may occur | rel=r_associated | relid=0 | w=35
  652. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in childhood may occur due to infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood may occur due to infection | rel=r_associated | relid=0 | w=35
  653. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in infancy (1 patient)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy (1 patient) | rel=r_associated | relid=0 | w=35
  654. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in infancy due to hyperthermia or apnea
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy due to hyperthermia or apnea | rel=r_associated | relid=0 | w=35
  655. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy or early childhood | rel=r_associated | relid=0 | w=35
  656. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in infancy, usually from sepsis, dehydration, or acidosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy, usually from sepsis, dehydration, or acidosis | rel=r_associated | relid=0 | w=35
  657. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in the first decade, usually from liver failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in the first decade, usually from liver failure | rel=r_associated | relid=0 | w=35
  658. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death in the mid-twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in the mid-twenties | rel=r_associated | relid=0 | w=35
  659. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death usually in teenage years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in teenage years | rel=r_associated | relid=0 | w=35
  660. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:death usually occurs by 12 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs by 12 months of life | rel=r_associated | relid=0 | w=35
  661. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:decrease in frequency and severity of episodes in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:decrease in frequency and severity of episodes in young adulthood | rel=r_associated | relid=0 | w=35
  662. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:decreased life expectancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:decreased life expectancy | rel=r_associated | relid=0 | w=35
  663. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:deletion sizes range from 287kb to 4.4mb
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deletion sizes range from 287kb to 4.4mb | rel=r_associated | relid=0 | w=35
  664. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:described in 6 japanese families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in 6 japanese families | rel=r_associated | relid=0 | w=35
  665. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:described in families from western japan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in families from western japan | rel=r_associated | relid=0 | w=35
  666. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:die at birth or shortly after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:die at birth or shortly after birth | rel=r_associated | relid=0 | w=35
  667. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | rel=r_associated | relid=0 | w=35
  668. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:distinct disorder from myasthenia gravis (mg, 254200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from myasthenia gravis (mg, 254200) | rel=r_associated | relid=0 | w=35
  669. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:distribution of lesions may be generalized, palmoplantar, or acral
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distribution of lesions may be generalized, palmoplantar, or acral | rel=r_associated | relid=0 | w=35
  670. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:diurnal fluctuation of neurologic symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=35
  671. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:duane anomaly is not always present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:duane anomaly is not always present | rel=r_associated | relid=0 | w=35
  672. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:early death without kidney transplant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death without kidney transplant | rel=r_associated | relid=0 | w=35
  673. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:eight patients from 2 unrelated families have been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=35
  674. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:eight unrelated patients have been reported (as of september 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:eight unrelated patients have been reported (as of september 2011) | rel=r_associated | relid=0 | w=35
  675. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:end-stage renal failure in first or second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:end-stage renal failure in first or second decade | rel=r_associated | relid=0 | w=35
  676. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:epiphyseal stippling is gone by 8 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:epiphyseal stippling is gone by 8 months of age | rel=r_associated | relid=0 | w=35
  677. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:episodes last about 1.5 hours
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes last about 1.5 hours | rel=r_associated | relid=0 | w=35
  678. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=35
  679. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:episodes usually last 1 to 2 days
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes usually last 1 to 2 days | rel=r_associated | relid=0 | w=35
  680. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=35
  681. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:exacerbated by stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=35
  682. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:exacerbation or regression during viral infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exacerbation or regression during viral infection | rel=r_associated | relid=0 | w=35
  683. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:excessive posttraumatic blood loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:excessive posttraumatic blood loss | rel=r_associated | relid=0 | w=35
  684. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:extrapyramidal signs show a favorable response to levodopa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=35
  685. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:extreme sensitivity to chemotherapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:extreme sensitivity to chemotherapy | rel=r_associated | relid=0 | w=35
  686. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:facial dysmorphic features may not be present and may become less apparent in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:facial dysmorphic features may not be present and may become less apparent in adulthood | rel=r_associated | relid=0 | w=35
  687. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:family c had a milder phenotype with survival into adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:family c had a milder phenotype with survival into adulthood | rel=r_associated | relid=0 | w=35
  688. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:favorable initial response to l-dopa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable initial response to l-dopa | rel=r_associated | relid=0 | w=35
  689. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:favorable response to alcohol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to alcohol | rel=r_associated | relid=0 | w=35
  690. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:favorable response to clonazepam
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to clonazepam | rel=r_associated | relid=0 | w=35
  691. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:favorable response to ephedrine treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=35
  692. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:features occur episodically
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features occur episodically | rel=r_associated | relid=0 | w=35
  693. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:feeding difficulties, including aspiration, ameliorate with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:feeding difficulties, including aspiration, ameliorate with age | rel=r_associated | relid=0 | w=35
  694. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:female carriers may be affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=35
  695. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:female to male ratio 5:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female to male ratio 5:1 | rel=r_associated | relid=0 | w=35
  696. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:females more severely affected than males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females more severely affected than males | rel=r_associated | relid=0 | w=35
  697. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:females often show milder phenotype with later onset of cardiac symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=35
  698. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:fetal death may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fetal death may occur | rel=r_associated | relid=0 | w=35
  699. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:fifty percent of cases are sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fifty percent of cases are sporadic | rel=r_associated | relid=0 | w=35
  700. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:first identified in individuals of cypriot origin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:first identified in individuals of cypriot origin | rel=r_associated | relid=0 | w=35
  701. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:five unrelated cases have been reported (as of march 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five unrelated cases have been reported (as of march 2012) | rel=r_associated | relid=0 | w=35
  702. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:focal or segmental onset in cranial-cervical area or upper limbs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:focal or segmental onset in cranial-cervical area or upper limbs | rel=r_associated | relid=0 | w=35
  703. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:for similar autosomal recessive form, see cln4 (204300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:for similar autosomal recessive form, see cln4 (204300) | rel=r_associated | relid=0 | w=35
  704. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:forty percent of patients die in the first year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:forty percent of patients die in the first year | rel=r_associated | relid=0 | w=35
  705. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:four patients from 3 unrelated families have been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=35
  706. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:four patients have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients have been reported | rel=r_associated | relid=0 | w=35
  707. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:four patients have been reported from pakistan (as of march 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients have been reported from pakistan (as of march 2011) | rel=r_associated | relid=0 | w=35
  708. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=35
  709. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:four unrelated patients have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=35
  710. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:fracture frequency constant through childhood, decreases after puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fracture frequency constant through childhood, decreases after puberty | rel=r_associated | relid=0 | w=35
  711. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:fracture frequency decreased post puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=35
  712. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:fractures and dental caries and premature secondary tooth loss occur in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=35
  713. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:fractures decrease after puberty but increase after menopause
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=35
  714. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:frequency 1/100,000 - 1/130,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency 1/100,000 - 1/130,000 live births | rel=r_associated | relid=0 | w=35
  715. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:frequency and severity of symptoms do not worsen with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=35
  716. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | rel=r_associated | relid=0 | w=35
  717. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:generalized dystonia in some cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:generalized dystonia in some cases | rel=r_associated | relid=0 | w=35
  718. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (ccm2 603284, ccm3 603285)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | rel=r_associated | relid=0 | w=35
  719. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 116800 for summary)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=35
  720. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 214300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 214300) | rel=r_associated | relid=0 | w=35
  721. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 304800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 304800) | rel=r_associated | relid=0 | w=35
  722. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see cmt1b 118200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmt1b 118200) | rel=r_associated | relid=0 | w=35
  723. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see cmt2b2, 605589)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmt2b2, 605589) | rel=r_associated | relid=0 | w=35
  724. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | rel=r_associated | relid=0 | w=35
  725. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see lgmd1a 159000 for overview)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see lgmd1a 159000 for overview) | rel=r_associated | relid=0 | w=35
  726. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see psnp1 601104)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see psnp1 601104) | rel=r_associated | relid=0 | w=35
  727. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see, e.g., atfb1, 608583)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., atfb1, 608583) | rel=r_associated | relid=0 | w=35
  728. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | rel=r_associated | relid=0 | w=35
  729. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity of waardenburg syndrome type 2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity of waardenburg syndrome type 2 | rel=r_associated | relid=0 | w=35
  730. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see sca1 (164400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see sca1 (164400) | rel=r_associated | relid=0 | w=35
  731. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:gonadal mosaicism may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gonadal mosaicism may occur | rel=r_associated | relid=0 | w=35
  732. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:greater expression in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:greater expression in females | rel=r_associated | relid=0 | w=35
  733. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:half of cases show retarded head circumference equal to height retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:half of cases show retarded head circumference equal to height retardation | rel=r_associated | relid=0 | w=35
  734. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:haploinsufficiency of grn (138945)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:haploinsufficiency of grn (138945) | rel=r_associated | relid=0 | w=35
  735. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | rel=r_associated | relid=0 | w=35
  736. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:hearing loss affects all frequencies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss affects all frequencies | rel=r_associated | relid=0 | w=35
  737. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:hearing loss ma be fluctuating or progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss ma be fluctuating or progressive | rel=r_associated | relid=0 | w=35
  738. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:hearing loss was diagnosed between 3 months to 1 year of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss was diagnosed between 3 months to 1 year of age | rel=r_associated | relid=0 | w=35
  739. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures | rel=r_associated | relid=0 | w=35
  740. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | rel=r_associated | relid=0 | w=35
  741. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=35
  742. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=35
  743. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:heterozygous female carriers may manifest symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous female carriers may manifest symptoms | rel=r_associated | relid=0 | w=35
  744. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:hhs is a more severe variant, often resulting in death in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hhs is a more severe variant, often resulting in death in childhood | rel=r_associated | relid=0 | w=35
  745. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high disease prevalence among french-canadians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high disease prevalence among french-canadians | rel=r_associated | relid=0 | w=35
  746. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | rel=r_associated | relid=0 | w=35
  747. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high frequency in hutterite population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in hutterite population | rel=r_associated | relid=0 | w=35
  748. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high prevalence among individuals of portuguese descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high prevalence among individuals of portuguese descent | rel=r_associated | relid=0 | w=35
  749. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high prevalence in charlevoix-saguenay region of northeastern quebec
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high prevalence in charlevoix-saguenay region of northeastern quebec | rel=r_associated | relid=0 | w=35
  750. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high prevalence in holguin province of cuba
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high prevalence in holguin province of cuba | rel=r_associated | relid=0 | w=35
  751. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high prevalence in japan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high prevalence in japan | rel=r_associated | relid=0 | w=35
  752. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high prevalence in the east asian population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high prevalence in the east asian population | rel=r_associated | relid=0 | w=35
  753. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:high risk of recurrence after surgery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=35
  754. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:highly variable degree of bone fragility, even among patients carrying the same mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable degree of bone fragility, even among patients carrying the same mutation | rel=r_associated | relid=0 | w=35
  755. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:highly variable phenotype, ranging from asymptomatic to death by age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | rel=r_associated | relid=0 | w=35
  756. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:histologic features overlap with henoch-schonlein purpura (hspn)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:histologic features overlap with henoch-schonlein purpura (hspn) | rel=r_associated | relid=0 | w=35
  757. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy'
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | rel=r_associated | relid=0 | w=35
  758. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) | rel=r_associated | relid=0 | w=35
  759. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | rel=r_associated | relid=0 | w=35
  760. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:hyperphosphatasia with mental retardation syndrome 6
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperphosphatasia with mental retardation syndrome 6 | rel=r_associated | relid=0 | w=35
  761. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | rel=r_associated | relid=0 | w=35
  762. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:immunosuppressive therapy may be beneficial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:immunosuppressive therapy may be beneficial | rel=r_associated | relid=0 | w=35
  763. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:incidence 1 in 300,000 in japan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1 in 300,000 in japan | rel=r_associated | relid=0 | w=35
  764. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:incidence 1/1,200-1/15,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1/1,200-1/15,000 live births | rel=r_associated | relid=0 | w=35
  765. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:incidence 2-5% of north american children
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 2-5% of north american children | rel=r_associated | relid=0 | w=35
  766. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:incidence of 0.51 per million in france
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 0.51 per million in france | rel=r_associated | relid=0 | w=35
  767. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 500,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 500,000 live births | rel=r_associated | relid=0 | w=35
  768. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:incidence of 4 per million per year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 4 per million per year | rel=r_associated | relid=0 | w=35
  769. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:incidence worldwide of 1 in 30,000 to 50,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence worldwide of 1 in 30,000 to 50,000 | rel=r_associated | relid=0 | w=35
  770. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased frequency in eastern pennsylvania amish
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in eastern pennsylvania amish | rel=r_associated | relid=0 | w=35
  771. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased prevalence in individuals of jewish-iraqi origin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence in individuals of jewish-iraqi origin | rel=r_associated | relid=0 | w=35
  772. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased prevalence in persons of ashkenazi jewish descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence in persons of ashkenazi jewish descent | rel=r_associated | relid=0 | w=35
  773. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased recurrence risk with parental translocation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=35
  774. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased spontaneous abortions in carrier mothers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased spontaneous abortions in carrier mothers | rel=r_associated | relid=0 | w=35
  775. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased susceptibility to infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased susceptibility to infections | rel=r_associated | relid=0 | w=35
  776. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased susceptibility to malignant hyperthermia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased susceptibility to malignant hyperthermia | rel=r_associated | relid=0 | w=35
  777. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  778. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:individuals may accumulate more pigment in hair and eyes with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:individuals may accumulate more pigment in hair and eyes with age | rel=r_associated | relid=0 | w=35
  779. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:infantile form usually leads to death by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile form usually leads to death by age 2 years | rel=r_associated | relid=0 | w=35
  780. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:infertility
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infertility | rel=r_associated | relid=0 | w=35
  781. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:initially normal for first 6-18 months which is then followed by withdrawal and regression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | rel=r_associated | relid=0 | w=35
  782. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:interfamilial and intrafamilial variability in severity of symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:interfamilial and intrafamilial variability in severity of symptoms | rel=r_associated | relid=0 | w=35
  783. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | rel=r_associated | relid=0 | w=35
  784. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:intrafamilial variability in severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variability in severity | rel=r_associated | relid=0 | w=35
  785. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:intrafamilial variation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variation | rel=r_associated | relid=0 | w=35
  786. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | rel=r_associated | relid=0 | w=35
  787. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:later childhood onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later childhood onset has been reported | rel=r_associated | relid=0 | w=35
  788. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:later onset (late childhood to young adult) has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=35
  789. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:later onset in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset in females | rel=r_associated | relid=0 | w=35
  790. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:later onset with a milder phenotype may also occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset with a milder phenotype may also occur | rel=r_associated | relid=0 | w=35
  791. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:leigh syndrome, x-linked
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:leigh syndrome, x-linked | rel=r_associated | relid=0 | w=35
  792. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:length of attack, 3 to 7 days
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=35
  793. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:life-threatening infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=35
  794. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:lifetime risk of breast cancer in mutation carriers is 80 to 90%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | rel=r_associated | relid=0 | w=35
  795. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=35
  796. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:liver disease may be the most predominant finding
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=35
  797. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:liver size returns to normal after 3 months to 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=35
  798. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:liver symptoms improve with age and disappear after puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=35
  799. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:majority of cases have been sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=35
  800. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:majority of cases occur in brazilian population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases occur in brazilian population | rel=r_associated | relid=0 | w=35
  801. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:male predominance of 3:1 to 5:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=35
  802. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:male to female ratio 21:8
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male to female ratio 21:8 | rel=r_associated | relid=0 | w=35
  803. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:male-to-female ratio 3 to 1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male-to-female ratio 3 to 1 | rel=r_associated | relid=0 | w=35
  804. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:males are more severely affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males are more severely affected | rel=r_associated | relid=0 | w=35
  805. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:males are more severely affected than females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males are more severely affected than females | rel=r_associated | relid=0 | w=35
  806. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:males carry mutations in the somatic mosaic state
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males carry mutations in the somatic mosaic state | rel=r_associated | relid=0 | w=35
  807. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:males more affected than females (2 to 2.5:1)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=35
  808. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:males tend to have earlier onset than females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=35
  809. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:many cases result from de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many cases result from de novo mutations | rel=r_associated | relid=0 | w=35
  810. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:many patients become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=35
  811. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:marked phenotypic variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked phenotypic variability | rel=r_associated | relid=0 | w=35
  812. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:may be precipitated by minor illness (e.g., viral infection, fever)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=35
  813. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mean age at onset 23.9 years (range 10 to 55 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 23.9 years (range 10 to 55 years) | rel=r_associated | relid=0 | w=35
  814. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mean age at onset is 13 years (range 6 to 43)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset is 13 years (range 6 to 43) | rel=r_associated | relid=0 | w=35
  815. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mean age of onset 20.6 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=35
  816. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mean duration of symptoms 4.2 plus or minus 2.4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean duration of symptoms 4.2 plus or minus 2.4 years | rel=r_associated | relid=0 | w=35
  817. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  818. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mild facial dysmorphism is associated with duplication of the flna gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild facial dysmorphism is associated with duplication of the flna gene | rel=r_associated | relid=0 | w=35
  819. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mild symptoms may occur in teenage years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild symptoms may occur in teenage years | rel=r_associated | relid=0 | w=35
  820. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=35
  821. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:miscellaneous
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:miscellaneous | rel=r_associated | relid=0 | w=35
  822. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mode of inheritance is uncertain
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mode of inheritance is uncertain | rel=r_associated | relid=0 | w=35
  823. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:more common in ashkenazi jews
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in ashkenazi jews | rel=r_associated | relid=0 | w=35
  824. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:more common in women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in women | rel=r_associated | relid=0 | w=35
  825. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mosaic distribution of lesions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mosaic distribution of lesions | rel=r_associated | relid=0 | w=35
  826. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most affected infants die shortly after birth from respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most affected infants die shortly after birth from respiratory failure | rel=r_associated | relid=0 | w=35
  827. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most case are sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most case are sporadic | rel=r_associated | relid=0 | w=35
  828. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most cases are isolated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases are isolated | rel=r_associated | relid=0 | w=35
  829. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most cases result from de novo mutation or deletion of rai1 (607642)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases result from de novo mutation or deletion of rai1 (607642) | rel=r_associated | relid=0 | w=35
  830. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most common age of clinical onset ranges from 16 to 33 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common age of clinical onset ranges from 16 to 33 years | rel=r_associated | relid=0 | w=35
  831. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  832. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most patients appear unaffected in the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients appear unaffected in the first year of life | rel=r_associated | relid=0 | w=35
  833. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most patients become wheelchair-bound in the second or third decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=35
  834. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most patients have a family history of fragile x syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients have a family history of fragile x syndrome | rel=r_associated | relid=0 | w=35
  835. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most patients have de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients have de novo mutations | rel=r_associated | relid=0 | w=35
  836. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most patients have severe streptococcus pneumoniae infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients have severe streptococcus pneumoniae infections | rel=r_associated | relid=0 | w=35
  837. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most patients retain ambulation with aids
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients retain ambulation with aids | rel=r_associated | relid=0 | w=35
  838. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:most severe form of gaucher disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most severe form of gaucher disease | rel=r_associated | relid=0 | w=35
  839. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:motor fluctuations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor fluctuations | rel=r_associated | relid=0 | w=35
  840. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:multiple lesions in familial cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiple lesions in familial cases | rel=r_associated | relid=0 | w=35
  841. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:multisystem decompensation in response to viral infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multisystem decompensation in response to viral infection | rel=r_associated | relid=0 | w=35
  842. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | rel=r_associated | relid=0 | w=35
  843. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  844. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | rel=r_associated | relid=0 | w=35
  845. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:neonatal death secondary to pulmonary insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal death secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=35
  846. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:neonatal sepsis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal sepsis | rel=r_associated | relid=0 | w=35
  847. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:neonatal/infantile death in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal/infantile death in most patients | rel=r_associated | relid=0 | w=35
  848. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:neurologic dysfunction is infrequent and associated with delayed diagnosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | rel=r_associated | relid=0 | w=35
  849. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:neuropsychiatric manifestations are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neuropsychiatric manifestations are variable | rel=r_associated | relid=0 | w=35
  850. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:no dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no dysmorphic features | rel=r_associated | relid=0 | w=35
  851. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:no extraocular findings
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=35
  852. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:no systemic manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no systemic manifestations | rel=r_associated | relid=0 | w=35
  853. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:nonprogressive or slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonprogressive or slowly progressive | rel=r_associated | relid=0 | w=35
  854. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:normal sclerae and teeth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal sclerae and teeth | rel=r_associated | relid=0 | w=35
  855. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:normal sialophorin gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal sialophorin gene | rel=r_associated | relid=0 | w=35
  856. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:not all patients have facial dysmorphism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not all patients have facial dysmorphism | rel=r_associated | relid=0 | w=35
  857. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:not responsive to steroid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not responsive to steroid treatment | rel=r_associated | relid=0 | w=35
  858. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:nphp shows autosomal recessive inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nphp shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=35
  859. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:occurs most often between 5 and 15 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs most often between 5 and 15 years of age | rel=r_associated | relid=0 | w=35
  860. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:occurs most often in developing countries in tropical regions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs most often in developing countries in tropical regions | rel=r_associated | relid=0 | w=35
  861. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:often associated with chiari type i malformation (cm1, 118420)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often associated with chiari type i malformation (cm1, 118420) | rel=r_associated | relid=0 | w=35
  862. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:often associated with klippel-feil anomaly (118100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often associated with klippel-feil anomaly (118100) | rel=r_associated | relid=0 | w=35
  863. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:often lethal in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often lethal in infancy | rel=r_associated | relid=0 | w=35
  864. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:older individuals had moderate to severe hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:older individuals had moderate to severe hearing loss | rel=r_associated | relid=0 | w=35
  865. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:older patients become wheelchair-dependent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:older patients become wheelchair-dependent | rel=r_associated | relid=0 | w=35
  866. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one 4-generation chinese family has been reported (as of 04/2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 4-generation chinese family has been reported (as of 04/2010) | rel=r_associated | relid=0 | w=35
  867. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one 9-generation family and 1 isolated patient described (last curated march 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | rel=r_associated | relid=0 | w=35
  868. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous family has been reported (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=35
  869. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous family has been reported (last curated may 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family has been reported (last curated may 2013) | rel=r_associated | relid=0 | w=35
  870. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | rel=r_associated | relid=0 | w=35
  871. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous italian family has been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous italian family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35
  872. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | rel=r_associated | relid=0 | w=35
  873. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous pakistani family has been reported (as of january 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=35
  874. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous pakistani family has been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=35
  875. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | rel=r_associated | relid=0 | w=35
  876. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family (4 affected members) has been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family (4 affected members) has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=35
  877. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family and 1 unrelated patient have been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family and 1 unrelated patient have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=35
  878. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family has been described (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=35
  879. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (as of october 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of october 2010) | rel=r_associated | relid=0 | w=35
  880. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=35
  881. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=35
  882. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family of sicilian origin has been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of sicilian origin has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  883. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family reported (as of may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (as of may 2012) | rel=r_associated | relid=0 | w=35
  884. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family reported (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (last curated november 2013) | rel=r_associated | relid=0 | w=35
  885. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family with 6 probands described (as of september 2000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 6 probands described (as of september 2000) | rel=r_associated | relid=0 | w=35
  886. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | rel=r_associated | relid=0 | w=35
  887. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | rel=r_associated | relid=0 | w=35
  888. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one german family has been reported (as of september 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one german family has been reported (as of september 2009) | rel=r_associated | relid=0 | w=35
  889. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one large 3-generation irish family has been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large 3-generation irish family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=35
  890. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=35
  891. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=35
  892. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one patient had onset at age 4 months after normal development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient had onset at age 4 months after normal development | rel=r_associated | relid=0 | w=35
  893. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one patient had onset at birth and a more severe disorder resulting in death at a young age
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  894. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one patient has been described (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been described (last curated january 2016) | rel=r_associated | relid=0 | w=35
  895. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35
  896. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=35
  897. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one patient showed improvement and was thriving at 46 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient showed improvement and was thriving at 46 months of age | rel=r_associated | relid=0 | w=35
  898. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one report of a large italian family from sardinia (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one report of a large italian family from sardinia (last curated december 2015) | rel=r_associated | relid=0 | w=35
  899. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:one swiss family with 19 affected individuals has been described (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=35
  900. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:only 10% develop hypertension at 18 years of age or less
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only 10% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=35
  901. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:only women have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only women have been reported | rel=r_associated | relid=0 | w=35
  902. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset 1-70 years of age (95% by early 50's)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 1-70 years of age (95% by early 50's) | rel=r_associated | relid=0 | w=35
  903. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset after age 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset after age 20 years | rel=r_associated | relid=0 | w=35
  904. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset at 4 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 4 years of age | rel=r_associated | relid=0 | w=35
  905. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset before age 20
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before age 20 | rel=r_associated | relid=0 | w=35
  906. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset before age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before age 3 years | rel=r_associated | relid=0 | w=35
  907. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset between 12 and 30 years (average 22)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 12 and 30 years (average 22) | rel=r_associated | relid=0 | w=35
  908. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset between 5 and 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 5 and 20 years | rel=r_associated | relid=0 | w=35
  909. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset between 8 and 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 8 and 30 years | rel=r_associated | relid=0 | w=35
  910. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset between 9 and 16 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 9 and 16 years | rel=r_associated | relid=0 | w=35
  911. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset beyond the second year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset beyond the second year of life | rel=r_associated | relid=0 | w=35
  912. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset by age 2 years | rel=r_associated | relid=0 | w=35
  913. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in childhood (range infancy to 14 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range infancy to 14 years) | rel=r_associated | relid=0 | w=35
  914. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in childhood or adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or adolescence | rel=r_associated | relid=0 | w=35
  915. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in childhood or adolescence in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or adolescence in most patients | rel=r_associated | relid=0 | w=35
  916. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in childhood or second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or second decade | rel=r_associated | relid=0 | w=35
  917. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in childhood, adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood, adolescence | rel=r_associated | relid=0 | w=35
  918. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in first decade (range 1 to 9 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade (range 1 to 9 years) | rel=r_associated | relid=0 | w=35
  919. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in first few years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first few years of life | rel=r_associated | relid=0 | w=35
  920. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first months of life | rel=r_associated | relid=0 | w=35
  921. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in infancy (3 months on)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy (3 months on) | rel=r_associated | relid=0 | w=35
  922. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in infancy after normal birth and neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy after normal birth and neonatal period | rel=r_associated | relid=0 | w=35
  923. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in infancy or childhood (range 1 to 13 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or childhood (range 1 to 13 years) | rel=r_associated | relid=0 | w=35
  924. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in infancy or early childhood (before age 3 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or early childhood (before age 3 years) | rel=r_associated | relid=0 | w=35
  925. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in late childhood or early teens
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late childhood or early teens | rel=r_associated | relid=0 | w=35
  926. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in late teens to twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late teens to twenties | rel=r_associated | relid=0 | w=35
  927. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in late twenties to thirties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late twenties to thirties | rel=r_associated | relid=0 | w=35
  928. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in late-childhood to early adulthood (12 to 20 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late-childhood to early adulthood (12 to 20 years) | rel=r_associated | relid=0 | w=35
  929. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in second to fifth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second to fifth decade | rel=r_associated | relid=0 | w=35
  930. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in second to fourth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second to fourth decade | rel=r_associated | relid=0 | w=35
  931. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in the first few months of life patients may need lifelong total parenteral nutrition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=35
  932. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in the first months of life (3 to 7 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the first months of life (3 to 7 months) | rel=r_associated | relid=0 | w=35
  933. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset in young adulthood (range 18 to 23 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in young adulthood (range 18 to 23 years) | rel=r_associated | relid=0 | w=35
  934. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset is usually in childhood or adolescence (2 to 18 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset is usually in childhood or adolescence (2 to 18 years) | rel=r_associated | relid=0 | w=35
  935. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | rel=r_associated | relid=0 | w=35
  936. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of ataxia and neuropathy in early twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of ataxia and neuropathy in early twenties | rel=r_associated | relid=0 | w=35
  937. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of deafness and diabetes in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of deafness and diabetes in adulthood | rel=r_associated | relid=0 | w=35
  938. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of disease before 7 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease before 7 years of age | rel=r_associated | relid=0 | w=35
  939. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  940. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of dystonia at 12 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of dystonia at 12 years | rel=r_associated | relid=0 | w=35
  941. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of gastrointestinal tumors typically occurs in the second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of gastrointestinal tumors typically occurs in the second decade | rel=r_associated | relid=0 | w=35
  942. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss ranges from childhood to young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=35
  943. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of kyphosis in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of kyphosis in childhood | rel=r_associated | relid=0 | w=35
  944. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of linear striations between 5 months and 6 years (only in affected females)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of linear striations between 5 months and 6 years (only in affected females) | rel=r_associated | relid=0 | w=35
  945. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of macrocephaly in the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of macrocephaly in the first year of life | rel=r_associated | relid=0 | w=35
  946. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of neurologic disease in early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of neurologic disease in early adulthood | rel=r_associated | relid=0 | w=35
  947. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of neuromuscular symptoms between 6 months and 1 year of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of neuromuscular symptoms between 6 months and 1 year of age | rel=r_associated | relid=0 | w=35
  948. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of optic atrophy in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of optic atrophy in childhood | rel=r_associated | relid=0 | w=35
  949. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | rel=r_associated | relid=0 | w=35
  950. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of seizures around 7 to 12 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures around 7 to 12 years | rel=r_associated | relid=0 | w=35
  951. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of seizures between 9 and 12 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures between 9 and 12 months of age | rel=r_associated | relid=0 | w=35
  952. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of seizures in first months of life (usually 4 to 7 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures in first months of life (usually 4 to 7 months) | rel=r_associated | relid=0 | w=35
  953. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of spastic paraplegia in first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of spastic paraplegia in first year of life | rel=r_associated | relid=0 | w=35
  954. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms 2-12 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms 2-12 months | rel=r_associated | relid=0 | w=35
  955. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in childhood with stiff, painful joints
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in childhood with stiff, painful joints | rel=r_associated | relid=0 | w=35
  956. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in early childhood in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=35
  957. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in first decade of life | rel=r_associated | relid=0 | w=35
  958. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in third to fourth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in third to fourth decade of life | rel=r_associated | relid=0 | w=35
  959. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of visual loss in childhood (around age 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of visual loss in childhood (around age 5 years) | rel=r_associated | relid=0 | w=35
  960. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset of visual loss in the first or second decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of visual loss in the first or second decades | rel=r_associated | relid=0 | w=35
  961. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset often in late adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset often in late adolescence | rel=r_associated | relid=0 | w=35
  962. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset ranges from 2 days to 7 months (most at 2-3 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from 2 days to 7 months (most at 2-3 months) | rel=r_associated | relid=0 | w=35
  963. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset ranges from birth to age 4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from birth to age 4 years | rel=r_associated | relid=0 | w=35
  964. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset ranges from young adulthood to sixties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from young adulthood to sixties | rel=r_associated | relid=0 | w=35
  965. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset usually in adulthood although childhood onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in adulthood although childhood onset has been reported | rel=r_associated | relid=0 | w=35
  966. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset usually in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood | rel=r_associated | relid=0 | w=35
  967. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset usually in childhood after bcg vaccination
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood after bcg vaccination | rel=r_associated | relid=0 | w=35
  968. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset usually in early childhood (but can range from infancy to adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in early childhood (but can range from infancy to adulthood) | rel=r_associated | relid=0 | w=35
  969. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:onset usually in the neck
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in the neck | rel=r_associated | relid=0 | w=35
  970. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:other muscle become involved about 5 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:other muscle become involved about 5 years after onset | rel=r_associated | relid=0 | w=35
  971. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  972. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:pain is relieved by antiinflammatory medication
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pain is relieved by antiinflammatory medication | rel=r_associated | relid=0 | w=35
  973. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:pain tends to occur later in the day
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pain tends to occur later in the day | rel=r_associated | relid=0 | w=35
  974. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:part of 'dent disease complex' (see 300009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:part of 'dent disease complex' (see 300009) | rel=r_associated | relid=0 | w=35
  975. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:partial laminin alpha-2 deficiency results in milder phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:partial laminin alpha-2 deficiency results in milder phenotype | rel=r_associated | relid=0 | w=35
  976. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:pathogenic alleles contain 71 to 1,300 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pathogenic alleles contain 71 to 1,300 repeats | rel=r_associated | relid=0 | w=35
  977. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=35
  978. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty | rel=r_associated | relid=0 | w=35
  979. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients are often misdiagnosed with spherocytosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are often misdiagnosed with spherocytosis | rel=r_associated | relid=0 | w=35
  980. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients are often of mediterranean origin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are often of mediterranean origin | rel=r_associated | relid=0 | w=35
  981. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients do not exhibit ophthalmoplegia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients do not exhibit ophthalmoplegia | rel=r_associated | relid=0 | w=35
  982. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | rel=r_associated | relid=0 | w=35
  983. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients look as if they have protein deficiency or malnutrition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients look as if they have protein deficiency or malnutrition | rel=r_associated | relid=0 | w=35
  984. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients may become wheelchair-bound as adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may become wheelchair-bound as adults | rel=r_associated | relid=0 | w=35
  985. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients may present with recurrent illnesses or infections, or shock
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may present with recurrent illnesses or infections, or shock | rel=r_associated | relid=0 | w=35
  986. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients often have a more severe and complicated phenotype in addition to peo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients often have a more severe and complicated phenotype in addition to peo | rel=r_associated | relid=0 | w=35
  987. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients remain ambulatory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients remain ambulatory | rel=r_associated | relid=0 | w=35
  988. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  989. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:patients with t2 deficiency and urinary abnormalities may be asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | rel=r_associated | relid=0 | w=35
  990. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | rel=r_associated | relid=0 | w=35
  991. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:percentages based on review of 51 published cases (pmid 24891339)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:percentages based on review of 51 published cases (pmid 24891339) | rel=r_associated | relid=0 | w=35
  992. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:performing laboratory phone:tele:pt:facility:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:performing laboratory phone:tele:pt:facility:nom | rel=r_associated | relid=0 | w=35
  993. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:perinatal lethality
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:perinatal lethality | rel=r_associated | relid=0 | w=35
  994. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:persistent exposure to fructose leads to chronic liver and kidney complications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:persistent exposure to fructose leads to chronic liver and kidney complications | rel=r_associated | relid=0 | w=35
  995. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:phenotype is classically defined as aplasia cutis and transverse limb defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype is classically defined as aplasia cutis and transverse limb defects | rel=r_associated | relid=0 | w=35
  996. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:phenotype may be exacerbated by maltreatment in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype may be exacerbated by maltreatment in childhood | rel=r_associated | relid=0 | w=35
  997. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with parkinson disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with parkinson disease | rel=r_associated | relid=0 | w=35
  998. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with revesz syndrome (268130)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with revesz syndrome (268130) | rel=r_associated | relid=0 | w=35
  999. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:phenotypic similarities to leigh syndrome (256000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic similarities to leigh syndrome (256000) | rel=r_associated | relid=0 | w=35
  1000. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:phenotypic similarities to noonan syndrome (163950)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic similarities to noonan syndrome (163950) | rel=r_associated | relid=0 | w=35
  1001. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> 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:two unrelated families have been reported (last curated february 2016) | 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=35
  1002. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:poor response to acetylcholinesterase inhibitors or cholinergic agents
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | rel=r_associated | relid=0 | w=35
  1003. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:poor response to the c5 inhibitor eculizumab
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor response to the c5 inhibitor eculizumab | rel=r_associated | relid=0 | w=35
  1004. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | rel=r_associated | relid=0 | w=35
  1005. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:precipitated by fever
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitated by fever | rel=r_associated | relid=0 | w=35
  1006. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:precipitating factors - ingestion of wheat gluten, rye, and/or barley
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | rel=r_associated | relid=0 | w=35
  1007. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:precipitating factors include viral illness and pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitating factors include viral illness and pregnancy | rel=r_associated | relid=0 | w=35
  1008. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:presence of additional features is variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presence of additional features is variable | rel=r_associated | relid=0 | w=35
  1009. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | rel=r_associated | relid=0 | w=35
  1010. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:presents at a later stage than sporadic wilms tumor
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presents at a later stage than sporadic wilms tumor | rel=r_associated | relid=0 | w=35
  1011. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:presents at birth or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presents at birth or early childhood | rel=r_associated | relid=0 | w=35
  1012. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalence 1 in 1,250
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence 1 in 1,250 | rel=r_associated | relid=0 | w=35
  1013. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalence of 0.5 to 1 in 1,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 0.5 to 1 in 1,000 | rel=r_associated | relid=0 | w=35
  1014. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 10,000 african-americans
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 10,000 african-americans | rel=r_associated | relid=0 | w=35
  1015. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 30,000 in northern europe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 30,000 in northern europe | rel=r_associated | relid=0 | w=35
  1016. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 6,000 to 1 in 10,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 6,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=35
  1017. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalent among individuals of east asian descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent among individuals of east asian descent | rel=r_associated | relid=0 | w=35
  1018. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalent among patients of asian descent, particularly japanese
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent among patients of asian descent, particularly japanese | rel=r_associated | relid=0 | w=35
  1019. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:prevalent in bulgarian gypsies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in bulgarian gypsies | rel=r_associated | relid=0 | w=35
  1020. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | rel=r_associated | relid=0 | w=35
  1021. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:progressive disorder due to secondary myopathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disorder due to secondary myopathy | rel=r_associated | relid=0 | w=35
  1022. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | rel=r_associated | relid=0 | w=35
  1023. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:reference lab test name:type:time reported elsewhere:reference lab test:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=35
  1024. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:relatives with multiple small congenital pigmented nevi
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relatives with multiple small congenital pigmented nevi | rel=r_associated | relid=0 | w=35
  1025. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:renal dysfunction normalizes in the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:renal dysfunction normalizes in the first year of life | rel=r_associated | relid=0 | w=35
  1026. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:reported in 1 family (last curated may 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in 1 family (last curated may 2013) | rel=r_associated | relid=0 | w=35
  1027. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:reported in 2 sibs (february 1991)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in 2 sibs (february 1991) | rel=r_associated | relid=0 | w=35
  1028. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:response to benadryl (diphenhydramine)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:response to benadryl (diphenhydramine) | rel=r_associated | relid=0 | w=35
  1029. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:responsive to treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:responsive to treatment | rel=r_associated | relid=0 | w=35
  1030. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:secondary features include arterial hypertension and renal involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:secondary features include arterial hypertension and renal involvement | rel=r_associated | relid=0 | w=35
  1031. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:see also autosomal dominant giant axonal neuropathy (610100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant giant axonal neuropathy (610100) | rel=r_associated | relid=0 | w=35
  1032. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:see also autosomal recessive familial mediterranean fever (fmf, 249100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | rel=r_associated | relid=0 | w=35
  1033. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:see also dyggve-melchior-clausen disease (223800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=35
  1034. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:see also facial hemihypertrophy (133900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also facial hemihypertrophy (133900) | rel=r_associated | relid=0 | w=35
  1035. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:see also familial developmental dysphasia (600117)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also familial developmental dysphasia (600117) | rel=r_associated | relid=0 | w=35
  1036. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | rel=r_associated | relid=0 | w=35
  1037. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=35
  1038. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures and cognitive involvement are variable findings
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures and cognitive involvement are variable findings | rel=r_associated | relid=0 | w=35
  1039. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures and dystonia peak during childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures and dystonia peak during childhood | rel=r_associated | relid=0 | w=35
  1040. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures are poorly responsive to treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are poorly responsive to treatment | rel=r_associated | relid=0 | w=35
  1041. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures are responsive to pyridoxine treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are responsive to pyridoxine treatment | rel=r_associated | relid=0 | w=35
  1042. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures are usually refractory at first
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are usually refractory at first | rel=r_associated | relid=0 | w=35
  1043. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures may be refractory to treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may be refractory to treatment | rel=r_associated | relid=0 | w=35
  1044. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | rel=r_associated | relid=0 | w=35
  1045. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seizures usually remit spontaneously by 12 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures usually remit spontaneously by 12 months of age | rel=r_associated | relid=0 | w=35
  1046. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1047. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1048. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1049. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1050. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1051. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35
  1052. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1053. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seventy percent of cases are stillborn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seventy percent of cases are stillborn | rel=r_associated | relid=0 | w=35
  1054. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:seventy percent of cases have associated anomalies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seventy percent of cases have associated anomalies | rel=r_associated | relid=0 | w=35
  1055. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:severe hypertension develops in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe hypertension develops in childhood | rel=r_associated | relid=0 | w=35
  1056. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:severity of clinical phenotype varies both within and between kindreds
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severity of clinical phenotype varies both within and between kindreds | rel=r_associated | relid=0 | w=35
  1057. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:shields classification -
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:shields classification - | rel=r_associated | relid=0 | w=35
  1058. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1059. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:six patients from 1 saudi arabian family have been reported (last curated december 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | rel=r_associated | relid=0 | w=35
  1060. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:six patients from 4 families have been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:six patients from 4 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35
  1061. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:skewed x-inactivation, with complete skewing in some individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=35
  1062. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:skin abnormalities can be present at birth or appear later in infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin abnormalities can be present at birth or appear later in infancy or childhood | rel=r_associated | relid=0 | w=35
  1063. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:skin abnormalities tend to decrease with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin abnormalities tend to decrease with age | rel=r_associated | relid=0 | w=35
  1064. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:skin erythroderma may resolve early, leaving atrophic lesions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin erythroderma may resolve early, leaving atrophic lesions | rel=r_associated | relid=0 | w=35
  1065. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:skin lesion appear shortly after birth and tend to disappear in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | rel=r_associated | relid=0 | w=35
  1066. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:skin manifestations may not be present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin manifestations may not be present | rel=r_associated | relid=0 | w=35
  1067. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some features are variable, even within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features are variable, even within families | rel=r_associated | relid=0 | w=35
  1068. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | rel=r_associated | relid=0 | w=35
  1069. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some heterozygous carriers exhibit accelerated age-related hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some heterozygous carriers exhibit accelerated age-related hearing loss | rel=r_associated | relid=0 | w=35
  1070. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some heterozygous carriers may have mild manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some heterozygous carriers may have mild manifestations | rel=r_associated | relid=0 | w=35
  1071. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some individuals may be clinically asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some individuals may be clinically asymptomatic | rel=r_associated | relid=0 | w=35
  1072. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients are clinically unaffected.
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients are clinically unaffected. | rel=r_associated | relid=0 | w=35
  1073. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients do not have dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not have dysmorphic features | rel=r_associated | relid=0 | w=35
  1074. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients do not manifest renal disease in the first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not manifest renal disease in the first decade of life | rel=r_associated | relid=0 | w=35
  1075. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1076. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have a severe phenotype with neurologic manifestations beginning at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | rel=r_associated | relid=0 | w=35
  1077. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | rel=r_associated | relid=0 | w=35
  1078. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have later onset and more variable phenotype (mngie)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have later onset and more variable phenotype (mngie) | rel=r_associated | relid=0 | w=35
  1079. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have lethal fetal akinesia with death in utero
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have lethal fetal akinesia with death in utero | rel=r_associated | relid=0 | w=35
  1080. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1081. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have no clinical symptoms and are detected by routine newborn screening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have no clinical symptoms and are detected by routine newborn screening | rel=r_associated | relid=0 | w=35
  1082. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients have no manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have no manifestations | rel=r_associated | relid=0 | w=35
  1083. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients may be asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may be asymptomatic | rel=r_associated | relid=0 | w=35
  1084. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients may have residual muscle weakness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have residual muscle weakness | rel=r_associated | relid=0 | w=35
  1085. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients may show response to immunosuppressive agents
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may show response to immunosuppressive agents | rel=r_associated | relid=0 | w=35
  1086. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients report cyclical changes in severity of symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients report cyclical changes in severity of symptoms | rel=r_associated | relid=0 | w=35
  1087. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients require cardiac transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients require cardiac transplantation | rel=r_associated | relid=0 | w=35
  1088. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients show infantile onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show infantile onset | rel=r_associated | relid=0 | w=35
  1089. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=35
  1090. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some patients with advanced loss of vision have normal eog
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients with advanced loss of vision have normal eog | rel=r_associated | relid=0 | w=35
  1091. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some pedigrees are consistent with autosomal dominant inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some pedigrees are consistent with autosomal dominant inheritance | rel=r_associated | relid=0 | w=35
  1092. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some phenotypic overlap with rett syndrome (312750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some phenotypic overlap with rett syndrome (312750) | rel=r_associated | relid=0 | w=35
  1093. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some response to l-dopa therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some response to l-dopa therapy | rel=r_associated | relid=0 | w=35
  1094. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | rel=r_associated | relid=0 | w=35
  1095. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | rel=r_associated | relid=0 | w=35
  1096. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | rel=r_associated | relid=0 | w=35
  1097. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:spontaneous resolution of seizures by 12 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous resolution of seizures by 12 months of age | rel=r_associated | relid=0 | w=35
  1098. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:spontaneous resorption (rare)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous resorption (rare) | rel=r_associated | relid=0 | w=35
  1099. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:static or slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:static or slowly progressive | rel=r_associated | relid=0 | w=35
  1100. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:stillbirth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stillbirth | rel=r_associated | relid=0 | w=35
  1101. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:stillborn or infantile death usual in prenatal form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stillborn or infantile death usual in prenatal form | rel=r_associated | relid=0 | w=35
  1102. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:survival 30 to 40 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival 30 to 40 years after onset | rel=r_associated | relid=0 | w=35
  1103. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:survival to 5-15 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival to 5-15 years of age | rel=r_associated | relid=0 | w=35
  1104. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:symptom onset ranges from infancy to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptom onset ranges from infancy to adulthood | rel=r_associated | relid=0 | w=35
  1105. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | rel=r_associated | relid=0 | w=35
  1106. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1107. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:symptoms of zinc deficiency occur only in exclusively breastfed infants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | rel=r_associated | relid=0 | w=35
  1108. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:symptoms resolve over weeks to months with usually no residual symptoms between attacks
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | rel=r_associated | relid=0 | w=35
  1109. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:symptoms usually induced only by strenuous exercise
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms usually induced only by strenuous exercise | rel=r_associated | relid=0 | w=35
  1110. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:telangiectasia become evident between the second and eighth year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:telangiectasia become evident between the second and eighth year of life | rel=r_associated | relid=0 | w=35
  1111. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | rel=r_associated | relid=0 | w=35
  1112. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1113. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:thorax anomaly ameliorates with age (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:thorax anomaly ameliorates with age (in some patients) | rel=r_associated | relid=0 | w=35
  1114. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | rel=r_associated | relid=0 | w=35
  1115. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:three families have been reported (as of december 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (as of december 2011) | rel=r_associated | relid=0 | w=35
  1116. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:three families have been reported (last curated july 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=35
  1117. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:three major clinical forms are apparent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three major clinical forms are apparent | rel=r_associated | relid=0 | w=35
  1118. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | rel=r_associated | relid=0 | w=35
  1119. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1120. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:three unrelated families have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=35
  1121. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:three unrelated families have been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=35
  1122. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:time of analysis:tmstp:pt:xxx:qn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:time of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=35
  1123. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | rel=r_associated | relid=0 | w=35
  1124. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:trauma may accelerate symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:trauma may accelerate symptoms | rel=r_associated | relid=0 | w=35
  1125. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:treatment with vitamin d and phosphate is effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with vitamin d and phosphate is effective | rel=r_associated | relid=0 | w=35
  1126. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:triggered by minor head trauma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:triggered by minor head trauma | rel=r_associated | relid=0 | w=35
  1127. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:twenty-five percent of affected babies are stillborn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:twenty-five percent of affected babies are stillborn | rel=r_associated | relid=0 | w=35
  1128. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two autosomal dominant families have been reported (as of may 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two autosomal dominant families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=35
  1129. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> 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:two unrelated families have been reported (last curated february 2016) | 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=35
  1130. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two families described (last curated july 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families described (last curated july 2013) | rel=r_associated | relid=0 | w=35
  1131. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two families described (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families described (last curated november 2013) | rel=r_associated | relid=0 | w=35
  1132. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two families from the tamil nedu region of eastern india have been described (last curated november 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1133. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two families have been reported (september 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (september 2010) | rel=r_associated | relid=0 | w=35
  1134. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two families reported (last curated february 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families reported (last curated february 2013) | rel=r_associated | relid=0 | w=35
  1135. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two families with different phenotypes have been reported (as of september 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families with different phenotypes have been reported (as of september 2010) | rel=r_associated | relid=0 | w=35
  1136. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two fetuses have been reported (as of august 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two fetuses have been reported (as of august 2011) | rel=r_associated | relid=0 | w=35
  1137. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two patients in one ashkenzai jewish family described (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients in one ashkenzai jewish family described (last curated june 2014) | rel=r_associated | relid=0 | w=35
  1138. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1139. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=35
  1140. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two subtypes noninflammatory type a and inflammatory type b
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two subtypes noninflammatory type a and inflammatory type b | rel=r_associated | relid=0 | w=35
  1141. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) | rel=r_associated | relid=0 | w=35
  1142. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1143. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated boys reported with relatively mild phenotype (last curated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | rel=r_associated | relid=0 | w=35
  1144. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated chinese families have been reported (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated chinese families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=35
  1145. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated consanguineous families have been reported (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated consanguineous families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=35
  1146. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated consanguineous families have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=35
  1147. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=35
  1148. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=35
  1149. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=35
  1150. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=35
  1151. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported to have hpca mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported to have hpca mutations | rel=r_associated | relid=0 | w=35
  1152. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35
  1153. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported (last curated october 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=35
  1154. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:two unrelated patients reported (last curated september 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients reported (last curated september 2012) | rel=r_associated | relid=0 | w=35
  1155. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | rel=r_associated | relid=0 | w=35
  1156. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:type 2n shows autosomal recessive inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2n shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=35
  1157. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:type iii is intermediate form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type iii is intermediate form | rel=r_associated | relid=0 | w=35
  1158. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:usually fatal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually fatal | rel=r_associated | relid=0 | w=35
  1159. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:usually fatal in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually fatal in infancy | rel=r_associated | relid=0 | w=35
  1160. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:usually sporadic, few cases described with autosomal dominant inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually sporadic, few cases described with autosomal dominant inheritance | rel=r_associated | relid=0 | w=35
  1161. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range 9 to 78 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 9 to 78 years) | rel=r_associated | relid=0 | w=35
  1162. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range first to fourth decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range first to fourth decade) | rel=r_associated | relid=0 | w=35
  1163. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable age at onset of neuropathy (range first to sixth decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset of neuropathy (range first to sixth decade) | rel=r_associated | relid=0 | w=35
  1164. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, ranging from childhood to adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, ranging from childhood to adult | rel=r_associated | relid=0 | w=35
  1165. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable cardiac defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable cardiac defects | rel=r_associated | relid=0 | w=35
  1166. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable clinical features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable clinical features | rel=r_associated | relid=0 | w=35
  1167. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable disease course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable disease course | rel=r_associated | relid=0 | w=35
  1168. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=35
  1169. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable frequency (daily to monthly)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable frequency (daily to monthly) | rel=r_associated | relid=0 | w=35
  1170. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable frequency and duration of episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable frequency and duration of episodes | rel=r_associated | relid=0 | w=35
  1171. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable neurologic phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable neurologic phenotype | rel=r_associated | relid=0 | w=35
  1172. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable phenotype, some patients have very mild symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype, some patients have very mild symptoms | rel=r_associated | relid=0 | w=35
  1173. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable progression | rel=r_associated | relid=0 | w=35
  1174. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable progression rate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable progression rate | rel=r_associated | relid=0 | w=35
  1175. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=35
  1176. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | rel=r_associated | relid=0 | w=35
  1177. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:vasculitic symptoms are associated with cold exposure (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:vasculitic symptoms are associated with cold exposure (in some patients) | rel=r_associated | relid=0 | w=35
  1178. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:vast majority of heterozygotes are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:vast majority of heterozygotes are asymptomatic | rel=r_associated | relid=0 | w=35
  1179. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:very rare
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:very rare | rel=r_associated | relid=0 | w=35
  1180. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | rel=r_associated | relid=0 | w=35
  1181. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:visual symptoms present by late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visual symptoms present by late childhood | rel=r_associated | relid=0 | w=35
  1182. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:waxing and waning cardiomyopathy (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:waxing and waning cardiomyopathy (in some patients) | rel=r_associated | relid=0 | w=35
  1183. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:wide range of severity between affected members of the same family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide range of severity between affected members of the same family | rel=r_associated | relid=0 | w=35
  1184. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:worldwide incidence of 1 in 185,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:worldwide incidence of 1 in 185,000 live births | rel=r_associated | relid=0 | w=35
  1185. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 35 / 0.814 -> en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | rel=r_associated | relid=0 | w=35
  1186. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:(4) thiamine-responsive form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(4) thiamine-responsive form | rel=r_associated | relid=0 | w=34
  1187. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:14% of patients survive with polyhydramnios
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:14% of patients survive with polyhydramnios | rel=r_associated | relid=0 | w=34
  1188. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:2% due to paternal uniparental disomy of 15q11.2-q13
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:2% due to paternal uniparental disomy of 15q11.2-q13 | rel=r_associated | relid=0 | w=34
  1189. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:25% due to mutations in ube3a (601623)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:25% due to mutations in ube3a (601623) | rel=r_associated | relid=0 | w=34
  1190. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:3 reported cases, 1 pedigree of affected sibs, neither parent affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | rel=r_associated | relid=0 | w=34
  1191. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:46,xx carriers are unaffected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:46,xx carriers are unaffected | rel=r_associated | relid=0 | w=34
  1192. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:a severe infantile variant has been rarely reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a severe infantile variant has been rarely reported | rel=r_associated | relid=0 | w=34
  1193. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:a wnt3 mutation has been identified in 1 affected family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a wnt3 mutation has been identified in 1 affected family | rel=r_associated | relid=0 | w=34
  1194. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:abnormal transferrin pattern tends to improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:abnormal transferrin pattern tends to improve with age | rel=r_associated | relid=0 | w=34
  1195. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:about 10% of patients have a severe early onset in the first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 10% of patients have a severe early onset in the first months of life | rel=r_associated | relid=0 | w=34
  1196. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:acanthosis nigricans fades during adolescence and reappears in pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | rel=r_associated | relid=0 | w=34
  1197. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult onset (20 to 40 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (20 to 40 years) | rel=r_associated | relid=0 | w=34
  1198. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult onset (mean 27 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (mean 27 years) | rel=r_associated | relid=0 | w=34
  1199. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult onset (range 19 to 48 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 19 to 48 years) | rel=r_associated | relid=0 | w=34
  1200. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult onset after puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset after puberty | rel=r_associated | relid=0 | w=34
  1201. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult onset from second to seventh decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset from second to seventh decade | rel=r_associated | relid=0 | w=34
  1202. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult onset of neurologic symptoms (range 30 to 46 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset of neurologic symptoms (range 30 to 46 years) | rel=r_associated | relid=0 | w=34
  1203. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult onset rarely reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset rarely reported | rel=r_associated | relid=0 | w=34
  1204. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | rel=r_associated | relid=0 | w=34
  1205. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:adult-onset in third to fourth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult-onset in third to fourth decade | rel=r_associated | relid=0 | w=34
  1206. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1207. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> 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:two unrelated families have been reported (last curated february 2016) | 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=34
  1208. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:affected individuals may have biallelic or heterozygous mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals may have biallelic or heterozygous mutations | rel=r_associated | relid=0 | w=34
  1209. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:affected infants appear normal at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected infants appear normal at birth | rel=r_associated | relid=0 | w=34
  1210. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:affected, mild - 50-150 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected, mild - 50-150 repeats | rel=r_associated | relid=0 | w=34
  1211. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:affects 1 to 3% of the population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affects 1 to 3% of the population | rel=r_associated | relid=0 | w=34
  1212. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:age at diagnosis 26 +/- 14 years for recessive disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at diagnosis 26 +/- 14 years for recessive disease | rel=r_associated | relid=0 | w=34
  1213. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:age at diagnosis of cataract may range up to 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at diagnosis of cataract may range up to 40 years | rel=r_associated | relid=0 | w=34
  1214. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:age at onset 8 to 55 years (mean 40 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=34
  1215. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:age of onset - birth to 15 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset - birth to 15 months | rel=r_associated | relid=0 | w=34
  1216. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:age of onset 17 to 68 years (mean 39)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 17 to 68 years (mean 39) | rel=r_associated | relid=0 | w=34
  1217. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:age of onset varies between 18 years and 53 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset varies between 18 years and 53 years | rel=r_associated | relid=0 | w=34
  1218. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:age-dependent penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age-dependent penetrance | rel=r_associated | relid=0 | w=34
  1219. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:alcohol may alleviate symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:alcohol may alleviate symptoms | rel=r_associated | relid=0 | w=34
  1220. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:all cases have been sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases have been sporadic | rel=r_associated | relid=0 | w=34
  1221. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:all features are unilateral
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=34
  1222. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:all patients have duplication of at least the crebbp gene (600140)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all patients have duplication of at least the crebbp gene (600140) | rel=r_associated | relid=0 | w=34
  1223. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | rel=r_associated | relid=0 | w=34
  1224. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | rel=r_associated | relid=0 | w=34
  1225. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to autosomal recessive form (224900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal recessive form (224900) | rel=r_associated | relid=0 | w=34
  1226. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | rel=r_associated | relid=0 | w=34
  1227. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | rel=r_associated | relid=0 | w=34
  1228. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=34
  1229. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | rel=r_associated | relid=0 | w=34
  1230. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | rel=r_associated | relid=0 | w=34
  1231. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to spinal muscular atrophy type i (253300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to spinal muscular atrophy type i (253300) | rel=r_associated | relid=0 | w=34
  1232. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | rel=r_associated | relid=0 | w=34
  1233. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to bardet-biedl syndrome 6 (209900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to bardet-biedl syndrome 6 (209900) | rel=r_associated | relid=0 | w=34
  1234. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to brachydactyly, type a2 (112600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to brachydactyly, type a2 (112600) | rel=r_associated | relid=0 | w=34
  1235. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to deafness, autosomal recessive 12 (601386)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to deafness, autosomal recessive 12 (601386) | rel=r_associated | relid=0 | w=34
  1236. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=34
  1237. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=34
  1238. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to marshall syndrome (154780)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to marshall syndrome (154780) | rel=r_associated | relid=0 | w=34
  1239. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=34
  1240. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=34
  1241. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1242. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | rel=r_associated | relid=0 | w=34
  1243. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1244. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:allelic with retinitis pigmentosa 35 (610282)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic with retinitis pigmentosa 35 (610282) | rel=r_associated | relid=0 | w=34
  1245. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:anemia may show onset in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia may show onset in infancy | rel=r_associated | relid=0 | w=34
  1246. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:aortic dissection may occur in second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:aortic dissection may occur in second decade of life | rel=r_associated | relid=0 | w=34
  1247. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with a balanced translocation t(12,22)(p11.2,q13.3)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | rel=r_associated | relid=0 | w=34
  1248. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> 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:two unrelated families have been reported (last curated february 2016) | 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=34
  1249. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with deletion at chromosome 2q37
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with deletion at chromosome 2q37 | rel=r_associated | relid=0 | w=34
  1250. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | rel=r_associated | relid=0 | w=34
  1251. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with increased paternal age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with increased paternal age | rel=r_associated | relid=0 | w=34
  1252. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with iron deficiency anemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with iron deficiency anemia | rel=r_associated | relid=0 | w=34
  1253. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with malignant hyperthermia (mhs, 145600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with malignant hyperthermia (mhs, 145600) | rel=r_associated | relid=0 | w=34
  1254. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | rel=r_associated | relid=0 | w=34
  1255. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:associated with untreated phenylketonuria (261600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with untreated phenylketonuria (261600) | rel=r_associated | relid=0 | w=34
  1256. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:asymptomatic patients may show changes on sd-oct
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=34
  1257. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:at birth, there is generalized red scaly skin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:at birth, there is generalized red scaly skin | rel=r_associated | relid=0 | w=34
  1258. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:ataxia is slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ataxia is slowly progressive | rel=r_associated | relid=0 | w=34
  1259. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:attacks more common in women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=34
  1260. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:attacks often drug-induced
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks often drug-induced | rel=r_associated | relid=0 | w=34
  1261. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1262. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:autonomic symptoms occur with headaches
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autonomic symptoms occur with headaches | rel=r_associated | relid=0 | w=34
  1263. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:autosomal dominant inheritance has been rarely reported (187800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant inheritance has been rarely reported (187800) | rel=r_associated | relid=0 | w=34
  1264. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive and dominant pedigrees described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive and dominant pedigrees described | rel=r_associated | relid=0 | w=34
  1265. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive cytochrome b-positive cgd, type i (233700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | rel=r_associated | relid=0 | w=34
  1266. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has been reported | rel=r_associated | relid=0 | w=34
  1267. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance with earlier onset has been suggested
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance with earlier onset has been suggested | rel=r_associated | relid=0 | w=34
  1268. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:average age at onset 18 years (range 15 to 25 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset 18 years (range 15 to 25 years) | rel=r_associated | relid=0 | w=34
  1269. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:based on 4 patients in one family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 4 patients in one family | rel=r_associated | relid=0 | w=34
  1270. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:based on detailed clinical description of 1 family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on detailed clinical description of 1 family | rel=r_associated | relid=0 | w=34
  1271. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:based on one large north american family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one large north american family (last curated august 2015) | rel=r_associated | relid=0 | w=34
  1272. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:based on one sib pair each in their seventies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=34
  1273. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:based on report of 1 japanese family (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 japanese family (last curated november 2013) | rel=r_associated | relid=0 | w=34
  1274. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 sisters (last curated october 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 sisters (last curated october 2012) | rel=r_associated | relid=0 | w=34
  1275. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:based on report of one consanguineous kuwaiti family (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1276. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:begins in feet and legs (peroneal distribution)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=34
  1277. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:bleeding episodes occur early in life and may disappear with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bleeding episodes occur early in life and may disappear with age | rel=r_associated | relid=0 | w=34
  1278. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:blistering becomes confined to the palms and soles with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blistering becomes confined to the palms and soles with age | rel=r_associated | relid=0 | w=34
  1279. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:both heterozygous and homozygous mutations have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both heterozygous and homozygous mutations have been reported | rel=r_associated | relid=0 | w=34
  1280. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:both reported cases survived beyond infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both reported cases survived beyond infancy | rel=r_associated | relid=0 | w=34
  1281. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:boys are more often affected than girls (3:2)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=34
  1282. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:brain mri abnormalities show improvement with time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:brain mri abnormalities show improvement with time | rel=r_associated | relid=0 | w=34
  1283. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:can be treated by bone marrow transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can be treated by bone marrow transplantation | rel=r_associated | relid=0 | w=34
  1284. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:candidiasis is usually the first symptom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:candidiasis is usually the first symptom | rel=r_associated | relid=0 | w=34
  1285. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:cardiac and pulmonary dysfunction normalize in the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiac and pulmonary dysfunction normalize in the first year of life | rel=r_associated | relid=0 | w=34
  1286. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:cardiac arrest and sudden death may occur, even in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiac arrest and sudden death may occur, even in early childhood | rel=r_associated | relid=0 | w=34
  1287. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:cardiac involvement occurs between 5 and 12 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiac involvement occurs between 5 and 12 years | rel=r_associated | relid=0 | w=34
  1288. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:carnitine supplementation can prevent further episodes and declines in cardiac function
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carnitine supplementation can prevent further episodes and declines in cardiac function | rel=r_associated | relid=0 | w=34
  1289. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:carrier females may present with postpartum hyperammonemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females may present with postpartum hyperammonemia | rel=r_associated | relid=0 | w=34
  1290. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:carrier frequency in finland 1/40
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier frequency in finland 1/40 | rel=r_associated | relid=0 | w=34
  1291. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:chronic course with exacerbations and remissions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=34
  1292. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | rel=r_associated | relid=0 | w=34
  1293. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:complementation groups - complementation group a (classic mliii, 252600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complementation groups - complementation group a (classic mliii, 252600) | rel=r_associated | relid=0 | w=34
  1294. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | rel=r_associated | relid=0 | w=34
  1295. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:contiguous gene duplication syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contiguous gene duplication syndrome | rel=r_associated | relid=0 | w=34
  1296. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:contractures other than plantar are less common and less severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=34
  1297. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:cyp2d6 represents about 1% of total liver cytochrome p450 content
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | rel=r_associated | relid=0 | w=34
  1298. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:deafness is presenting symptom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deafness is presenting symptom | rel=r_associated | relid=0 | w=34
  1299. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death in first weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in first weeks of life | rel=r_associated | relid=0 | w=34
  1300. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death in perinatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=34
  1301. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death occurs 10 to 20 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death occurs 10 to 20 years after onset | rel=r_associated | relid=0 | w=34
  1302. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death usually by age 10 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually by age 10 years | rel=r_associated | relid=0 | w=34
  1303. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death usually due to respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually due to respiratory failure | rel=r_associated | relid=0 | w=34
  1304. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death usually in the first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in the first 2 years of life | rel=r_associated | relid=0 | w=34
  1305. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death usually in the perinatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in the perinatal period | rel=r_associated | relid=0 | w=34
  1306. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death usually occurs in infancy or childhood if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs in infancy or childhood if untreated | rel=r_associated | relid=0 | w=34
  1307. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death usually occurs in the first weeks to months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs in the first weeks to months of life | rel=r_associated | relid=0 | w=34
  1308. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death within first months or years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within first months or years of life | rel=r_associated | relid=0 | w=34
  1309. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:death within first year of life in 25%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within first year of life in 25% | rel=r_associated | relid=0 | w=34
  1310. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | rel=r_associated | relid=0 | w=34
  1311. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:described in individuals of jewish bukharian descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in individuals of jewish bukharian descent | rel=r_associated | relid=0 | w=34
  1312. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:described in individuals of roma gypsy origin (founder mutation)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in individuals of roma gypsy origin (founder mutation) | rel=r_associated | relid=0 | w=34
  1313. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:despite voluminous steatorrhea, patients' growth and overall state of health is good
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | rel=r_associated | relid=0 | w=34
  1314. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:development of afebrile seizures later in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:development of afebrile seizures later in childhood | rel=r_associated | relid=0 | w=34
  1315. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:diabetes and anemia respond to high doses of thiamine supplementation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diabetes and anemia respond to high doses of thiamine supplementation | rel=r_associated | relid=0 | w=34
  1316. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:disease usually progresses in a cephalocaudal direction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease usually progresses in a cephalocaudal direction | rel=r_associated | relid=0 | w=34
  1317. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1318. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | rel=r_associated | relid=0 | w=34
  1319. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | rel=r_associated | relid=0 | w=34
  1320. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:diurnal fluctuation, more apparent in earlier years, later subsides
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diurnal fluctuation, more apparent in earlier years, later subsides | rel=r_associated | relid=0 | w=34
  1321. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | rel=r_associated | relid=0 | w=34
  1322. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | rel=r_associated | relid=0 | w=34
  1323. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:earlier onset associated with faster progression and shorter life span
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earlier onset associated with faster progression and shorter life span | rel=r_associated | relid=0 | w=34
  1324. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:early death in patients with cloverleaf skull
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death in patients with cloverleaf skull | rel=r_associated | relid=0 | w=34
  1325. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:early death in the first few weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death in the first few weeks of life | rel=r_associated | relid=0 | w=34
  1326. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:early lethality in most cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early lethality in most cases | rel=r_associated | relid=0 | w=34
  1327. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | rel=r_associated | relid=0 | w=34
  1328. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:early-onset severe renal disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early-onset severe renal disease | rel=r_associated | relid=0 | w=34
  1329. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1330. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:episodes are triggered by fatigue, illness, or strenuous exercise
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes are triggered by fatigue, illness, or strenuous exercise | rel=r_associated | relid=0 | w=34
  1331. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:episodic metabolic decompensation usually associated with illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodic metabolic decompensation usually associated with illness | rel=r_associated | relid=0 | w=34
  1332. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:estimated carrier frequency 1/100
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated carrier frequency 1/100 | rel=r_associated | relid=0 | w=34
  1333. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:estimated carrier frequency in charlevoix-saguenay region is 1/22
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | rel=r_associated | relid=0 | w=34
  1334. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:estimated frequency 1/2000-1/4000 individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=34
  1335. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:exercise intolerance often evident in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exercise intolerance often evident in childhood | rel=r_associated | relid=0 | w=34
  1336. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:extremely variable phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:extremely variable phenotype | rel=r_associated | relid=0 | w=34
  1337. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:eye and vestibular findings were found in some members of one family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:eye and vestibular findings were found in some members of one family | rel=r_associated | relid=0 | w=34
  1338. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:familial form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:familial form | rel=r_associated | relid=0 | w=34
  1339. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=34
  1340. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:fatal in first few months of life in most cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal in first few months of life in most cases | rel=r_associated | relid=0 | w=34
  1341. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:fatal multiorgan failure due to severe inflammatory response in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal multiorgan failure due to severe inflammatory response in some patients | rel=r_associated | relid=0 | w=34
  1342. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:favorable response to alcohol in about 50%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to alcohol in about 50% | rel=r_associated | relid=0 | w=34
  1343. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:favorable response to anticholinesterase medication
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to anticholinesterase medication | rel=r_associated | relid=0 | w=34
  1344. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:favorable response to anticonvulsants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to anticonvulsants | rel=r_associated | relid=0 | w=34
  1345. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:favorable response to cholinesterase inhibitors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to cholinesterase inhibitors | rel=r_associated | relid=0 | w=34
  1346. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:favorable response to l-dopa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to l-dopa | rel=r_associated | relid=0 | w=34
  1347. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:favorable response to l-dopa without side effects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to l-dopa without side effects | rel=r_associated | relid=0 | w=34
  1348. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:favorable response to ursodeoxycholic acid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to ursodeoxycholic acid treatment | rel=r_associated | relid=0 | w=34
  1349. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:female carriers are unaffected or show neuropsychiatric features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers are unaffected or show neuropsychiatric features | rel=r_associated | relid=0 | w=34
  1350. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:female carriers may be less severely affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may be less severely affected | rel=r_associated | relid=0 | w=34
  1351. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:female carriers may have cardiac defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have cardiac defects | rel=r_associated | relid=0 | w=34
  1352. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:female carriers may show mild learning disabilities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may show mild learning disabilities | rel=r_associated | relid=0 | w=34
  1353. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:female to male ratio ranges from 2:1 to 4:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female to male ratio ranges from 2:1 to 4:1 | rel=r_associated | relid=0 | w=34
  1354. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:females are most often affected, but rare male cases have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females are most often affected, but rare male cases have been reported | rel=r_associated | relid=0 | w=34
  1355. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:females may be unaffected or mildly affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females may be unaffected or mildly affected | rel=r_associated | relid=0 | w=34
  1356. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:fever, muscle cramping, and poor feeding remit by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fever, muscle cramping, and poor feeding remit by age 2 years | rel=r_associated | relid=0 | w=34
  1357. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:few patients with mild to moderate mental retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:few patients with mild to moderate mental retardation | rel=r_associated | relid=0 | w=34
  1358. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:five patients have been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five patients have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1359. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:five unrelated patients have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=34
  1360. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:fluoxetine therapy may be effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fluoxetine therapy may be effective | rel=r_associated | relid=0 | w=34
  1361. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:four cases have been reported, all female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four cases have been reported, all female | rel=r_associated | relid=0 | w=34
  1362. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:four families have been reported (last curated june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four families have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=34
  1363. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1364. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:four types of cgd with basically identical clinical phenotypes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four types of cgd with basically identical clinical phenotypes | rel=r_associated | relid=0 | w=34
  1365. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:four unrelated boys have been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated boys have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=34
  1366. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:fracture frequency increases after menopause and in men ages 60-80
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fracture frequency increases after menopause and in men ages 60-80 | rel=r_associated | relid=0 | w=34
  1367. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:fractures often heal without deformity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fractures often heal without deformity | rel=r_associated | relid=0 | w=34
  1368. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:frequency of attack, monthly - bimonthly
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency of attack, monthly - bimonthly | rel=r_associated | relid=0 | w=34
  1369. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:full recovery after attacks
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=34
  1370. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:generally benign disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:generally benign disorder | rel=r_associated | relid=0 | w=34
  1371. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic anticipation associated with progressive telomere shortening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic anticipation associated with progressive telomere shortening | rel=r_associated | relid=0 | w=34
  1372. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 145410)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 145410) | rel=r_associated | relid=0 | w=34
  1373. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 191100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 191100) | rel=r_associated | relid=0 | w=34
  1374. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 607634)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 607634) | rel=r_associated | relid=0 | w=34
  1375. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 609192)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=34
  1376. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | rel=r_associated | relid=0 | w=34
  1377. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | rel=r_associated | relid=0 | w=34
  1378. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see (203300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see (203300) | rel=r_associated | relid=0 | w=34
  1379. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | rel=r_associated | relid=0 | w=34
  1380. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | rel=r_associated | relid=0 | w=34
  1381. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:genomic duplications occur de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genomic duplications occur de novo | rel=r_associated | relid=0 | w=34
  1382. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:germline and somatic mutations contribute to this disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:germline and somatic mutations contribute to this disorder | rel=r_associated | relid=0 | w=34
  1383. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:glucocorticoid deficiency occurs in mid-childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:glucocorticoid deficiency occurs in mid-childhood | rel=r_associated | relid=0 | w=34
  1384. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:good response to levodopa treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to levodopa treatment | rel=r_associated | relid=0 | w=34
  1385. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:good seizure control with medication
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good seizure control with medication | rel=r_associated | relid=0 | w=34
  1386. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:great variation in extent of hypertrophy in mutation-positive individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=34
  1387. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | rel=r_associated | relid=0 | w=34
  1388. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:hair loss begins in first years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hair loss begins in first years of life | rel=r_associated | relid=0 | w=34
  1389. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:half (50%) of affected patients have a recurrent episode with worse outcome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:half (50%) of affected patients have a recurrent episode with worse outcome | rel=r_associated | relid=0 | w=34
  1390. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:hearing loss is usually severe by age 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss is usually severe by age 20 years | rel=r_associated | relid=0 | w=34
  1391. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:hearing loss occurs in late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=34
  1392. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=34
  1393. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | rel=r_associated | relid=0 | w=34
  1394. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:heterozygous mutations reported, see 606609.0006 and 606609.0007
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | rel=r_associated | relid=0 | w=34
  1395. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | rel=r_associated | relid=0 | w=34
  1396. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:high frequency in finnish population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in finnish population | rel=r_associated | relid=0 | w=34
  1397. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:high frequency of de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency of de novo mutations | rel=r_associated | relid=0 | w=34
  1398. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:high incidence in sweden and finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high incidence in sweden and finland | rel=r_associated | relid=0 | w=34
  1399. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:high incidence of diabetes mellitus noted in opll patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high incidence of diabetes mellitus noted in opll patients | rel=r_associated | relid=0 | w=34
  1400. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:high intrafamilial and interfamilial variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=34
  1401. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:highest incidence in men of european descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highest incidence in men of european descent | rel=r_associated | relid=0 | w=34
  1402. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:highly variable intrafamilial expression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable intrafamilial expression | rel=r_associated | relid=0 | w=34
  1403. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:highly variable phenotype with regard to pigmentation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype with regard to pigmentation | rel=r_associated | relid=0 | w=34
  1404. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:hip replacement in early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hip replacement in early adulthood | rel=r_associated | relid=0 | w=34
  1405. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1406. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | rel=r_associated | relid=0 | w=34
  1407. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:hypersensitivity to ionizing radiation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=34
  1408. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | rel=r_associated | relid=0 | w=34
  1409. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1410. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:imprinting at 11p15.5
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:imprinting at 11p15.5 | rel=r_associated | relid=0 | w=34
  1411. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | rel=r_associated | relid=0 | w=34
  1412. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | rel=r_associated | relid=0 | w=34
  1413. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:in severe attacks, hemiplegia or coma may last days to weeks
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=34
  1414. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence - 1 in 25,000-100,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence - 1 in 25,000-100,000 | rel=r_associated | relid=0 | w=34
  1415. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence 1 in 50,000-100,000 in western europe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1 in 50,000-100,000 in western europe | rel=r_associated | relid=0 | w=34
  1416. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 1,000,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 1,000,000 | rel=r_associated | relid=0 | w=34
  1417. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | rel=r_associated | relid=0 | w=34
  1418. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 25,000 to 1 in 50,000 newborns
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | rel=r_associated | relid=0 | w=34
  1419. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 3,900 births among jewish persons
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 3,900 births among jewish persons | rel=r_associated | relid=0 | w=34
  1420. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 40,000 infants worldwide
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 40,000 infants worldwide | rel=r_associated | relid=0 | w=34
  1421. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 5,000 to 1 in 10,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=34
  1422. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 5,000-8,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=34
  1423. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incidence of mh in anesthetized adults is 1 in 50,000-100,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | rel=r_associated | relid=0 | w=34
  1424. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance (50%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=34
  1425. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance in some families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=34
  1426. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | rel=r_associated | relid=0 | w=34
  1427. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:increased frequency among japanese and chinese
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency among japanese and chinese | rel=r_associated | relid=0 | w=34
  1428. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:increased prevalence among the finnish
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence among the finnish | rel=r_associated | relid=0 | w=34
  1429. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:increased prevalence in individuals of turkish descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence in individuals of turkish descent | rel=r_associated | relid=0 | w=34
  1430. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:increased risk of miscarriage
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of miscarriage | rel=r_associated | relid=0 | w=34
  1431. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:increased risk of post-splenectomy thrombotic complications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of post-splenectomy thrombotic complications | rel=r_associated | relid=0 | w=34
  1432. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:increased susceptibility to neisseria infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased susceptibility to neisseria infections | rel=r_associated | relid=0 | w=34
  1433. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:individuals develop ability to stand and walk
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:individuals develop ability to stand and walk | rel=r_associated | relid=0 | w=34
  1434. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:individuals do not develop erythrocytosis under hypoxic conditions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:individuals do not develop erythrocytosis under hypoxic conditions | rel=r_associated | relid=0 | w=34
  1435. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:infant death may occur secondary to sepsis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infant death may occur secondary to sepsis | rel=r_associated | relid=0 | w=34
  1436. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:inflammatory bowel disease may develop in childhood or adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=34
  1437. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:intellectual disability is variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intellectual disability is variable | rel=r_associated | relid=0 | w=34
  1438. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:intermediate levels of factor x in mildly symptomatic heterozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intermediate levels of factor x in mildly symptomatic heterozygotes | rel=r_associated | relid=0 | w=34
  1439. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:intolerant of heat
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intolerant of heat | rel=r_associated | relid=0 | w=34
  1440. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:intrafamilial phenotypic variation may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=34
  1441. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:intrafamilial variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variability | rel=r_associated | relid=0 | w=34
  1442. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:ketogenic diet may be effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=34
  1443. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1444. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:later onset has been rarely reported (up to age 68 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset has been rarely reported (up to age 68 years) | rel=r_associated | relid=0 | w=34
  1445. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:left sided involvement occurs more frequently
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=34
  1446. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:lethal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lethal | rel=r_associated | relid=0 | w=34
  1447. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:lethal in first weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lethal in first weeks of life | rel=r_associated | relid=0 | w=34
  1448. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:lifetime risk of breast cancer in male mutation carriers in 6%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lifetime risk of breast cancer in male mutation carriers in 6% | rel=r_associated | relid=0 | w=34
  1449. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:liver failure episodes cease in later childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver failure episodes cease in later childhood | rel=r_associated | relid=0 | w=34
  1450. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:loss of independent walking by teenage years (in some)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss of independent walking by teenage years (in some) | rel=r_associated | relid=0 | w=34
  1451. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:lower limb involvement occurs before upper limb involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=34
  1452. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:lower limbs more severely affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lower limbs more severely affected | rel=r_associated | relid=0 | w=34
  1453. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:lymphedema that presents at puberty is called meige disease (153200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lymphedema that presents at puberty is called meige disease (153200) | rel=r_associated | relid=0 | w=34
  1454. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:madelung deformity more frequent and more severe in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=34
  1455. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:majority of cases are due to de novo mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases are due to de novo mutation | rel=r_associated | relid=0 | w=34
  1456. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:majority of cases are sporadic, often in tall, thin men
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=34
  1457. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:majority of cases from middle eastern countries
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases from middle eastern countries | rel=r_associated | relid=0 | w=34
  1458. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:majority of children die between 6 months and 5 yrs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=34
  1459. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:majority of wws patients die within the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of wws patients die within the first year of life | rel=r_associated | relid=0 | w=34
  1460. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:males may be more affected than females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=34
  1461. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:males more frequently have severe lesions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males more frequently have severe lesions | rel=r_associated | relid=0 | w=34
  1462. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:manifests in infancy (including neonatal lethal) or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=34
  1463. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:many cases are sporadic, but somatic and germline mosaicism has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many cases are sporadic, but somatic and germline mosaicism has been reported | rel=r_associated | relid=0 | w=34
  1464. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:many cases due to de novo mutation or chromosome aberration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many cases due to de novo mutation or chromosome aberration | rel=r_associated | relid=0 | w=34
  1465. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> 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:two unrelated families have been reported (last curated february 2016) | 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=34
  1466. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:marked favorable response to l-dopa treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=34
  1467. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:marked heterogeneity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=34
  1468. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:maternal oligohydramnios
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:maternal oligohydramnios | rel=r_associated | relid=0 | w=34
  1469. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:may be lethal in the neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=34
  1470. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:may be same entity as elejalde syndrome (256710)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be same entity as elejalde syndrome (256710) | rel=r_associated | relid=0 | w=34
  1471. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mean age at onset 45 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 45 years | rel=r_associated | relid=0 | w=34
  1472. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mean age at onset 57-60 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=34
  1473. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mean age of onset about 62 years (45-79 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=34
  1474. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=34
  1475. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:median age of onset of leukoplakia - 7 years (range 1-26 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | rel=r_associated | relid=0 | w=34
  1476. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:median age of onset of nail dystrophy - 7 years (range 1-6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=34
  1477. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1478. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mesomelia becomes more evident with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=34
  1479. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:metabolic encephalomyopathic crises often triggered by infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=34
  1480. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:microdeletion is approximately 1.5mb in length
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:microdeletion is approximately 1.5mb in length | rel=r_associated | relid=0 | w=34
  1481. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mild features such as digital clubbing may be apparent in older heterozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild features such as digital clubbing may be apparent in older heterozygotes | rel=r_associated | relid=0 | w=34
  1482. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mild manifestations in carrier females (cleft lip, cleft tongue)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild manifestations in carrier females (cleft lip, cleft tongue) | rel=r_associated | relid=0 | w=34
  1483. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | rel=r_associated | relid=0 | w=34
  1484. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mliii is a heterogeneous disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mliii is a heterogeneous disorder | rel=r_associated | relid=0 | w=34
  1485. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | rel=r_associated | relid=0 | w=34
  1486. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:more common in women (90%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in women (90%) | rel=r_associated | relid=0 | w=34
  1487. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most (80 to 90%) of cases result from deletions of the sts gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most (80 to 90%) of cases result from deletions of the sts gene | rel=r_associated | relid=0 | w=34
  1488. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most affected infants die in the first month of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most affected infants die in the first month of life | rel=r_associated | relid=0 | w=34
  1489. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most cases are autosomal dominant, recessive inheritance has rarely been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | rel=r_associated | relid=0 | w=34
  1490. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most common episodic ataxia syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common episodic ataxia syndrome | rel=r_associated | relid=0 | w=34
  1491. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most common form of childhood idiopathic epilepsy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common form of childhood idiopathic epilepsy | rel=r_associated | relid=0 | w=34
  1492. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most common form of porphyria
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common form of porphyria | rel=r_associated | relid=0 | w=34
  1493. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most common inherited ataxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common inherited ataxia | rel=r_associated | relid=0 | w=34
  1494. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most common muscle disease of older persons
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common muscle disease of older persons | rel=r_associated | relid=0 | w=34
  1495. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most common subtype of frontotemporal dementia (600274)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common subtype of frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=34
  1496. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most patients die of renal failure in early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die of renal failure in early adulthood | rel=r_associated | relid=0 | w=34
  1497. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most patients do not learn to sit or walk
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients do not learn to sit or walk | rel=r_associated | relid=0 | w=34
  1498. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | rel=r_associated | relid=0 | w=34
  1499. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:most remit by 6 weeks (1-6 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most remit by 6 weeks (1-6 months) | rel=r_associated | relid=0 | w=34
  1500. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:motor impairment more significant than sensory impairment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor impairment more significant than sensory impairment | rel=r_associated | relid=0 | w=34
  1501. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:motor skills less affected than cognitive skills
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor skills less affected than cognitive skills | rel=r_associated | relid=0 | w=34
  1502. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | rel=r_associated | relid=0 | w=34
  1503. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:muscle contractions in infancy occur in response to tactile stimulation or crying
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:muscle contractions in infancy occur in response to tactile stimulation or crying | rel=r_associated | relid=0 | w=34
  1504. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:mutant alleles have 47 to 63 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutant alleles have 47 to 63 repeats | rel=r_associated | relid=0 | w=34
  1505. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:nails, palms, and soles are spared in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nails, palms, and soles are spared in some patients | rel=r_associated | relid=0 | w=34
  1506. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:natural aversion to carbohydrates
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:natural aversion to carbohydrates | rel=r_associated | relid=0 | w=34
  1507. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:neonatal onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal onset | rel=r_associated | relid=0 | w=34
  1508. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:neonatal or infant death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal or infant death | rel=r_associated | relid=0 | w=34
  1509. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:neurologic signs last hours to days
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic signs last hours to days | rel=r_associated | relid=0 | w=34
  1510. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:neurologic symptoms may develop decades later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic symptoms may develop decades later | rel=r_associated | relid=0 | w=34
  1511. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:ninety percent of cases are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ninety percent of cases are female | rel=r_associated | relid=0 | w=34
  1512. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:no clinical description given for 1 reported patient (last curated december 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no clinical description given for 1 reported patient (last curated december 2013) | rel=r_associated | relid=0 | w=34
  1513. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | rel=r_associated | relid=0 | w=34
  1514. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:non-progressive and more severe progressive forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:non-progressive and more severe progressive forms | rel=r_associated | relid=0 | w=34
  1515. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:nonpenetrance has been observed
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonpenetrance has been observed | rel=r_associated | relid=0 | w=34
  1516. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:nonprogressive hepatic form is less frequent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonprogressive hepatic form is less frequent | rel=r_associated | relid=0 | w=34
  1517. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:nonprogressive in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonprogressive in most patients | rel=r_associated | relid=0 | w=34
  1518. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | rel=r_associated | relid=0 | w=34
  1519. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:normal alleles contain up to 30 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal alleles contain up to 30 repeats | rel=r_associated | relid=0 | w=34
  1520. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | rel=r_associated | relid=0 | w=34
  1521. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:normal birth (finding)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal birth (finding) | rel=r_associated | relid=0 | w=34
  1522. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:normal development between episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal development between episodes | rel=r_associated | relid=0 | w=34
  1523. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:not all patients have renal involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not all patients have renal involvement | rel=r_associated | relid=0 | w=34
  1524. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:occurs on right side in 75% of cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs on right side in 75% of cases | rel=r_associated | relid=0 | w=34
  1525. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:oculomotor apraxia is not always present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:oculomotor apraxia is not always present | rel=r_associated | relid=0 | w=34
  1526. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | rel=r_associated | relid=0 | w=34
  1527. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:often fatal due in infancy due to intractable diarrhea
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often fatal due in infancy due to intractable diarrhea | rel=r_associated | relid=0 | w=34
  1528. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one 3-generation korean family and one father daughter have been reported (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=34
  1529. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1530. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one boy and 5 unrelated girls have been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34
  1531. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | rel=r_associated | relid=0 | w=34
  1532. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous family of indian descent has been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family of indian descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34
  1533. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous moroccan family has been reported (as of january 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous moroccan family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=34
  1534. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous pakistani family has been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=34
  1535. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous pakistani has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1536. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous saudi arabian family has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1537. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous senegalese family has been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous senegalese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1538. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one consanguineous turkish family has been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous turkish family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=34
  1539. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family and 1 unrelated patient have been reported (last curated january 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family and 1 unrelated patient have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=34
  1540. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=34
  1541. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family from punjab, india has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family from punjab, india has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1542. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported | rel=r_associated | relid=0 | w=34
  1543. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated january 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=34
  1544. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=34
  1545. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated october 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=34
  1546. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family with 2 affected brothers has been reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 2 affected brothers has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  1547. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family with a cacna1b mutation has been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with a cacna1b mutation has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=34
  1548. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one family with autosomal dominant inheritance had only progressive bone marrow failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | rel=r_associated | relid=0 | w=34
  1549. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> 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:two unrelated families have been reported (last curated february 2016) | 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=34
  1550. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one french family has been reported (last curated march 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one french family has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=34
  1551. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one indian family has been reported (as of october 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one indian family has been reported (as of october 2011) | rel=r_associated | relid=0 | w=34
  1552. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | rel=r_associated | relid=0 | w=34
  1553. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one korean family has been reported (as of november 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one korean family has been reported (as of november 2011) | rel=r_associated | relid=0 | w=34
  1554. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=34
  1555. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one large swedish family has been reported (as of april 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large swedish family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=34
  1556. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one of the 2 most common forms of albinism in the world, along with oca2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one of the 2 most common forms of albinism in the world, along with oca2 | rel=r_associated | relid=0 | w=34
  1557. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1558. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (as of december 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of december 2011) | rel=r_associated | relid=0 | w=34
  1559. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of february 2012) | rel=r_associated | relid=0 | w=34
  1560. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated july 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated july 2013) | rel=r_associated | relid=0 | w=34
  1561. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=34
  1562. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=34
  1563. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient with a de novo mutation has been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with a de novo mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=34
  1564. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1565. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient with episodic ataxia and later onset has been reported (as of june 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | rel=r_associated | relid=0 | w=34
  1566. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient with normal cognition has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with normal cognition has been reported | rel=r_associated | relid=0 | w=34
  1567. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one patient with normal psychomotor development has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with normal psychomotor development has been reported | rel=r_associated | relid=0 | w=34
  1568. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1569. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:one-third of cases are sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one-third of cases are sporadic | rel=r_associated | relid=0 | w=34
  1570. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:only some patients showed neurologic involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only some patients showed neurologic involvement | rel=r_associated | relid=0 | w=34
  1571. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset 0-12 hours after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 0-12 hours after birth | rel=r_associated | relid=0 | w=34
  1572. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset 13 to 63 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 13 to 63 years of age | rel=r_associated | relid=0 | w=34
  1573. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset 3 months of age up to 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 3 months of age up to 5 years | rel=r_associated | relid=0 | w=34
  1574. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset 5 to 10 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 5 to 10 years of age | rel=r_associated | relid=0 | w=34
  1575. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset 7 to 15 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 7 to 15 months of age | rel=r_associated | relid=0 | w=34
  1576. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset about 6 months of age after normal growth and development in the first few months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1577. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset after puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset after puberty | rel=r_associated | relid=0 | w=34
  1578. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset at 2 to 4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 2 to 4 years | rel=r_associated | relid=0 | w=34
  1579. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset before age 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before age 40 years | rel=r_associated | relid=0 | w=34
  1580. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset between 6 and 12 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 6 and 12 months of age | rel=r_associated | relid=0 | w=34
  1581. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset birth to early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset birth to early infancy | rel=r_associated | relid=0 | w=34
  1582. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset by 1 year of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset by 1 year of age | rel=r_associated | relid=0 | w=34
  1583. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset early childhood | rel=r_associated | relid=0 | w=34
  1584. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in childhood or youth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or youth | rel=r_associated | relid=0 | w=34
  1585. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in early childhood (4 to 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood (4 to 5 years) | rel=r_associated | relid=0 | w=34
  1586. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in early childhood (infancy to age 7 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood (infancy to age 7 years) | rel=r_associated | relid=0 | w=34
  1587. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in early infancy, between 2 weeks and 3 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early infancy, between 2 weeks and 3 months | rel=r_associated | relid=0 | w=34
  1588. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in feet and legs (peroneal distribution)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=34
  1589. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in first 2 decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first 2 decades | rel=r_associated | relid=0 | w=34
  1590. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in first 2 decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first 2 decades of life | rel=r_associated | relid=0 | w=34
  1591. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1592. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in first decades (males)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decades (males) | rel=r_associated | relid=0 | w=34
  1593. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in fourth and fifth decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in fourth and fifth decades | rel=r_associated | relid=0 | w=34
  1594. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in infancy and early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy and early childhood | rel=r_associated | relid=0 | w=34
  1595. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in infancy or in the first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or in the first months of life | rel=r_associated | relid=0 | w=34
  1596. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in infancy was reported in 1 family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy was reported in 1 family | rel=r_associated | relid=0 | w=34
  1597. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in late childhood/adolescence (approximately 15 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late childhood/adolescence (approximately 15 years) | rel=r_associated | relid=0 | w=34
  1598. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in the sixth or seventh decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the sixth or seventh decades | rel=r_associated | relid=0 | w=34
  1599. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset in utero or at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in utero or at birth | rel=r_associated | relid=0 | w=34
  1600. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset may be prelingual or in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset may be prelingual or in childhood | rel=r_associated | relid=0 | w=34
  1601. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of bleeding symptoms in childhood or young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of bleeding symptoms in childhood or young adulthood | rel=r_associated | relid=0 | w=34
  1602. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of disease in fourth or fifth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease in fourth or fifth decade of life | rel=r_associated | relid=0 | w=34
  1603. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of end-stage renal disease 15 to 20 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of end-stage renal disease 15 to 20 years after onset | rel=r_associated | relid=0 | w=34
  1604. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of fractures in infancy to early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of fractures in infancy to early childhood | rel=r_associated | relid=0 | w=34
  1605. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of hearing loss in first or second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in first or second decade | rel=r_associated | relid=0 | w=34
  1606. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1607. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of lipodystrophy in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of lipodystrophy in early childhood | rel=r_associated | relid=0 | w=34
  1608. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of muscle weakness in early childhood, usually before age 10 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of muscle weakness in early childhood, usually before age 10 years | rel=r_associated | relid=0 | w=34
  1609. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of osteoarthritis in teens to early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of osteoarthritis in teens to early adulthood | rel=r_associated | relid=0 | w=34
  1610. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of scoliosis as early as 2 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of scoliosis as early as 2 years of age | rel=r_associated | relid=0 | w=34
  1611. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of seizures in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures in infancy or early childhood | rel=r_associated | relid=0 | w=34
  1612. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of seizures ranges from 2 to 11 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures ranges from 2 to 11 years | rel=r_associated | relid=0 | w=34
  1613. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of sleepwalking between 4 and 8 years old
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of sleepwalking between 4 and 8 years old | rel=r_associated | relid=0 | w=34
  1614. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of slowly progressive spastic paraplegia in first or second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of slowly progressive spastic paraplegia in first or second decade | rel=r_associated | relid=0 | w=34
  1615. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms 2-4 weeks of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms 2-4 weeks of age | rel=r_associated | relid=0 | w=34
  1616. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms between ages 3-8 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms between ages 3-8 years of age | rel=r_associated | relid=0 | w=34
  1617. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in second to third decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in second to third decades of life | rel=r_associated | relid=0 | w=34
  1618. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms usually in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms usually in adulthood | rel=r_associated | relid=0 | w=34
  1619. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset of thrombosis by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of thrombosis by age 2 years | rel=r_associated | relid=0 | w=34
  1620. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset ranges from first to third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from first to third decade | rel=r_associated | relid=0 | w=34
  1621. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset soon after birth or within the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset soon after birth or within the first year of life | rel=r_associated | relid=0 | w=34
  1622. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually after viral-like infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually after viral-like infection | rel=r_associated | relid=0 | w=34
  1623. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in adolescence | rel=r_associated | relid=0 | w=34
  1624. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in early childhood, although ranges from birth to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in early childhood, although ranges from birth to adulthood | rel=r_associated | relid=0 | w=34
  1625. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in first or second decade (mean 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in first or second decade (mean 10 years) | rel=r_associated | relid=0 | w=34
  1626. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in first or second decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in first or second decades | rel=r_associated | relid=0 | w=34
  1627. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in infancy although later onset may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in infancy although later onset may occur | rel=r_associated | relid=0 | w=34
  1628. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in late adolescence or early adulthood (range 15 to 45 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | rel=r_associated | relid=0 | w=34
  1629. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in second or third decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in second or third decades | rel=r_associated | relid=0 | w=34
  1630. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in the third decade (range 11 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in the third decade (range 11 to 50 years) | rel=r_associated | relid=0 | w=34
  1631. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset usually in third decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in third decade of life | rel=r_associated | relid=0 | w=34
  1632. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset within first 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset within first 2 years | rel=r_associated | relid=0 | w=34
  1633. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:onset within first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset within first year of life | rel=r_associated | relid=0 | w=34
  1634. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:oral contraceptives may also cause symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:oral contraceptives may also cause symptoms | rel=r_associated | relid=0 | w=34
  1635. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:ossification evident 2-8 months following swelling
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ossification evident 2-8 months following swelling | rel=r_associated | relid=0 | w=34
  1636. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:ossification occurs spontaneously during childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ossification occurs spontaneously during childhood | rel=r_associated | relid=0 | w=34
  1637. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:other tumors may also occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:other tumors may also occur | rel=r_associated | relid=0 | w=34
  1638. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:overlapping features with barber-say syndrome (209885)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overlapping features with barber-say syndrome (209885) | rel=r_associated | relid=0 | w=34
  1639. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:painful cramping following ischemic exercise test
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:painful cramping following ischemic exercise test | rel=r_associated | relid=0 | w=34
  1640. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients are 46,xy individuals who may be phenotypically female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are 46,xy individuals who may be phenotypically female | rel=r_associated | relid=0 | w=34
  1641. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients exhibit no signs of ocular or cutaneous albinism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients exhibit no signs of ocular or cutaneous albinism | rel=r_associated | relid=0 | w=34
  1642. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | rel=r_associated | relid=0 | w=34
  1643. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients have a distinctive shallow u-shaped audiogram
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients have a distinctive shallow u-shaped audiogram | rel=r_associated | relid=0 | w=34
  1644. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients may have either dementia or motor neuron disease or both
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may have either dementia or motor neuron disease or both | rel=r_associated | relid=0 | w=34
  1645. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | rel=r_associated | relid=0 | w=34
  1646. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | rel=r_associated | relid=0 | w=34
  1647. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients require achilles tendon lengthening in first or second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients require achilles tendon lengthening in first or second decade of life | rel=r_associated | relid=0 | w=34
  1648. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:patients with the autosomal recessive disorder have a more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with the autosomal recessive disorder have a more severe phenotype | rel=r_associated | relid=0 | w=34
  1649. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:pectus carinatum present in obligate carrier mothers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pectus carinatum present in obligate carrier mothers | rel=r_associated | relid=0 | w=34
  1650. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | rel=r_associated | relid=0 | w=34
  1651. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with fhm1 (141500) and sca6 (183086)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | rel=r_associated | relid=0 | w=34
  1652. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with frontotemporal dementia (600274)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=34
  1653. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | rel=r_associated | relid=0 | w=34
  1654. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | rel=r_associated | relid=0 | w=34
  1655. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | rel=r_associated | relid=0 | w=34
  1656. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:phenotypic variation in severity and symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic variation in severity and symptoms | rel=r_associated | relid=0 | w=34
  1657. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | rel=r_associated | relid=0 | w=34
  1658. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:polg mutations account for approximately 45% of all peo cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:polg mutations account for approximately 45% of all peo cases | rel=r_associated | relid=0 | w=34
  1659. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:poor response to levodopa treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor response to levodopa treatment | rel=r_associated | relid=0 | w=34
  1660. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:precipitated by infection, fasting, or intercurrent illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitated by infection, fasting, or intercurrent illness | rel=r_associated | relid=0 | w=34
  1661. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prelingual onset in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prelingual onset in males | rel=r_associated | relid=0 | w=34
  1662. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:preponderance of affected females (80%) to males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:preponderance of affected females (80%) to males | rel=r_associated | relid=0 | w=34
  1663. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:presents at 2 to 3 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presents at 2 to 3 months of age | rel=r_associated | relid=0 | w=34
  1664. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence estimated at 1 in 86,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence estimated at 1 in 86,000 | rel=r_associated | relid=0 | w=34
  1665. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence in taiwan is 1 in 132,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in taiwan is 1 in 132,000 | rel=r_associated | relid=0 | w=34
  1666. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 100,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 100,000 | rel=r_associated | relid=0 | w=34
  1667. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 3,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 3,000 | rel=r_associated | relid=0 | w=34
  1668. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 7,900 in cameroon
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 7,900 in cameroon | rel=r_associated | relid=0 | w=34
  1669. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 70,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 70,000 | rel=r_associated | relid=0 | w=34
  1670. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of 19 in 1,000,000 in sweden
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 19 in 1,000,000 in sweden | rel=r_associated | relid=0 | w=34
  1671. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of 2-7% in english-speaking preschool children
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 2-7% in english-speaking preschool children | rel=r_associated | relid=0 | w=34
  1672. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | rel=r_associated | relid=0 | w=34
  1673. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:prevalence of true hypoprothrombinemia is 1 in 2 million
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of true hypoprothrombinemia is 1 in 2 million | rel=r_associated | relid=0 | w=34
  1674. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:primary teeth affected greater than secondary teeth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:primary teeth affected greater than secondary teeth | rel=r_associated | relid=0 | w=34
  1675. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:profound dementia and death usually occurs by age 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:profound dementia and death usually occurs by age 50 years | rel=r_associated | relid=0 | w=34
  1676. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:progresses to involve upper limbs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progresses to involve upper limbs | rel=r_associated | relid=0 | w=34
  1677. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:progressive cerebellar ataxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive cerebellar ataxia | rel=r_associated | relid=0 | w=34
  1678. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:progressive disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disease | rel=r_associated | relid=0 | w=34
  1679. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:progressive disorder, with older patients exhibiting more severe symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disorder, with older patients exhibiting more severe symptoms | rel=r_associated | relid=0 | w=34
  1680. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:progressive sclerosis with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive sclerosis with age | rel=r_associated | relid=0 | w=34
  1681. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:progressive skeletal dysplasia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive skeletal dysplasia | rel=r_associated | relid=0 | w=34
  1682. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1683. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:rapid progression in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapid progression in adolescence | rel=r_associated | relid=0 | w=34
  1684. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:rapidly progressive episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive episodes | rel=r_associated | relid=0 | w=34
  1685. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:rapidly progressive neonatal onset with early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive neonatal onset with early death | rel=r_associated | relid=0 | w=34
  1686. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:rapidly progressive to persistent vegetative state or death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive to persistent vegetative state or death | rel=r_associated | relid=0 | w=34
  1687. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:rare autosomal dominant inheritance has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=34
  1688. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:rare spontaneous improvement occurs (8%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rare spontaneous improvement occurs (8%) | rel=r_associated | relid=0 | w=34
  1689. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:recessive inheritance is rare
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recessive inheritance is rare | rel=r_associated | relid=0 | w=34
  1690. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:reduced longevity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced longevity | rel=r_associated | relid=0 | w=34
  1691. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:renal involvement and coloboma may not be present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:renal involvement and coloboma may not be present | rel=r_associated | relid=0 | w=34
  1692. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:reported in individuals of sephardic jewish ancestry
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in individuals of sephardic jewish ancestry | rel=r_associated | relid=0 | w=34
  1693. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:response to acetazolamide
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:response to acetazolamide | rel=r_associated | relid=0 | w=34
  1694. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:responsive to oral mannose therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:responsive to oral mannose therapy | rel=r_associated | relid=0 | w=34
  1695. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:retinal arteriolar tortuosity develops in adolescence and is progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:retinal arteriolar tortuosity develops in adolescence and is progressive | rel=r_associated | relid=0 | w=34
  1696. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:retinal hemorrhages usually resolve without sequelae
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:retinal hemorrhages usually resolve without sequelae | rel=r_associated | relid=0 | w=34
  1697. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:risk of death due to cardiac dysfunction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of death due to cardiac dysfunction | rel=r_associated | relid=0 | w=34
  1698. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:risk of thromboembolic stroke
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of thromboembolic stroke | rel=r_associated | relid=0 | w=34
  1699. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:scalp hair quality improves during pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:scalp hair quality improves during pregnancy | rel=r_associated | relid=0 | w=34
  1700. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seasonal variation in severity of skin symptoms reported by some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seasonal variation in severity of skin symptoms reported by some patients | rel=r_associated | relid=0 | w=34
  1701. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:secondary tumors develop within the skin lesions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:secondary tumors develop within the skin lesions | rel=r_associated | relid=0 | w=34
  1702. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see 255160 for an autosomal recessive form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see 255160 for an autosomal recessive form | rel=r_associated | relid=0 | w=34
  1703. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | rel=r_associated | relid=0 | w=34
  1704. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also autosomal dominant sick sinus syndrome (163800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant sick sinus syndrome (163800) | rel=r_associated | relid=0 | w=34
  1705. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also autosomal recessive peob (258450)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal recessive peob (258450) | rel=r_associated | relid=0 | w=34
  1706. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also benign familial infantile convulsions (bfic1, 601764)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also benign familial infantile convulsions (bfic1, 601764) | rel=r_associated | relid=0 | w=34
  1707. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also cbld (277410)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also cbld (277410) | rel=r_associated | relid=0 | w=34
  1708. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also da2b (601680), which is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also da2b (601680), which is an allelic disorder | rel=r_associated | relid=0 | w=34
  1709. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also dominant deb (131750), an allelic disorder with a less severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=34
  1710. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also dominant deb (131750), an allelic disorder with a similar phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | rel=r_associated | relid=0 | w=34
  1711. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also junctional eb with pyloric atresia (226730)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also junctional eb with pyloric atresia (226730) | rel=r_associated | relid=0 | w=34
  1712. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also leptin deficiency (614962) and summary information in bmiq1 (606641)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | rel=r_associated | relid=0 | w=34
  1713. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also more severe phenotype peeling skin syndrome (270300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also more severe phenotype peeling skin syndrome (270300) | rel=r_associated | relid=0 | w=34
  1714. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see also optic atrophy with deafness (125250), an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also optic atrophy with deafness (125250), an allelic disorder | rel=r_associated | relid=0 | w=34
  1715. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=34
  1716. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures are provoked by immersion in hot or warm water
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are provoked by immersion in hot or warm water | rel=r_associated | relid=0 | w=34
  1717. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures are refractory to treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are refractory to treatment | rel=r_associated | relid=0 | w=34
  1718. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | rel=r_associated | relid=0 | w=34
  1719. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures may improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may improve with age | rel=r_associated | relid=0 | w=34
  1720. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures may persist into adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may persist into adulthood | rel=r_associated | relid=0 | w=34
  1721. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures recur in 33% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures recur in 33% of patients | rel=r_associated | relid=0 | w=34
  1722. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures remit in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures remit in early childhood | rel=r_associated | relid=0 | w=34
  1723. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:seizures tend to remit later in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures tend to remit later in childhood | rel=r_associated | relid=0 | w=34
  1724. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1725. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1726. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34
  1727. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1728. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1729. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1730. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:severe course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe course | rel=r_associated | relid=0 | w=34
  1731. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | rel=r_associated | relid=0 | w=34
  1732. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:severity of hematologic disorder decreases with advancing age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severity of hematologic disorder decreases with advancing age | rel=r_associated | relid=0 | w=34
  1733. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:short survival (less than 10 years after onset)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:short survival (less than 10 years after onset) | rel=r_associated | relid=0 | w=34
  1734. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | rel=r_associated | relid=0 | w=34
  1735. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:single lesions in sporadic cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:single lesions in sporadic cases | rel=r_associated | relid=0 | w=34
  1736. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:single mitochondrial dna deletions are found in sporadic kss patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:single mitochondrial dna deletions are found in sporadic kss patients | rel=r_associated | relid=0 | w=34
  1737. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:six patients have been reported (as of october 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:six patients have been reported (as of october 2011) | rel=r_associated | relid=0 | w=34
  1738. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:skin appears normal at birth, with development of generalized ichthyosis in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | rel=r_associated | relid=0 | w=34
  1739. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:slc25a4 mutations account for approximately 4% of all peo cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slc25a4 mutations account for approximately 4% of all peo cases | rel=r_associated | relid=0 | w=34
  1740. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:slow progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slow progression | rel=r_associated | relid=0 | w=34
  1741. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1742. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:somatic mutations occur in adrenal tumor tissue (601639.0001)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | rel=r_associated | relid=0 | w=34
  1743. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:somatic or germline mosaicism may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:somatic or germline mosaicism may occur | rel=r_associated | relid=0 | w=34
  1744. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some families have axonal cmt (cmt2m)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some families have axonal cmt (cmt2m) | rel=r_associated | relid=0 | w=34
  1745. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some features are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features are variable | rel=r_associated | relid=0 | w=34
  1746. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some features are variably present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features are variably present | rel=r_associated | relid=0 | w=34
  1747. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | rel=r_associated | relid=0 | w=34
  1748. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1749. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients acquire late ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients acquire late ambulation | rel=r_associated | relid=0 | w=34
  1750. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients carry heterozygous mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients carry heterozygous mutations | rel=r_associated | relid=0 | w=34
  1751. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients do not have bone disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not have bone disease | rel=r_associated | relid=0 | w=34
  1752. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients have asymptomatic hypocalcemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have asymptomatic hypocalcemia | rel=r_associated | relid=0 | w=34
  1753. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients have no or mild manifestations and normal development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have no or mild manifestations and normal development | rel=r_associated | relid=0 | w=34
  1754. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients have only plantar surface involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have only plantar surface involvement | rel=r_associated | relid=0 | w=34
  1755. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1756. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients may have isolated cardiac involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have isolated cardiac involvement | rel=r_associated | relid=0 | w=34
  1757. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients may respond to thiamine treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may respond to thiamine treatment | rel=r_associated | relid=0 | w=34
  1758. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients show a favorable response to sulfonylurea treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show a favorable response to sulfonylurea treatment | rel=r_associated | relid=0 | w=34
  1759. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some patients show improvement in muscle power in the teenage years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show improvement in muscle power in the teenage years | rel=r_associated | relid=0 | w=34
  1760. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> 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:two unrelated families have been reported (last curated february 2016) | 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=34
  1761. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:some people with a cnnm2 mutation are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some people with a cnnm2 mutation are asymptomatic | rel=r_associated | relid=0 | w=34
  1762. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | rel=r_associated | relid=0 | w=34
  1763. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:spinal tumors are necessary for diagnosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spinal tumors are necessary for diagnosis | rel=r_associated | relid=0 | w=34
  1764. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:spontaneously resolves by 5 to 6 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneously resolves by 5 to 6 months of age | rel=r_associated | relid=0 | w=34
  1765. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:sporadic occurrence is associated with advanced paternal age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sporadic occurrence is associated with advanced paternal age | rel=r_associated | relid=0 | w=34
  1766. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:stage ii, rapid developmental regression (onset 1-4 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stage ii, rapid developmental regression (onset 1-4 years) | rel=r_associated | relid=0 | w=34
  1767. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:subtle facial phenotype compared to other types of hpe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subtle facial phenotype compared to other types of hpe | rel=r_associated | relid=0 | w=34
  1768. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:successful treatment with oral isotretinoin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:successful treatment with oral isotretinoin | rel=r_associated | relid=0 | w=34
  1769. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:symptoms may be exacerbated by pregnancy or trauma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms may be exacerbated by pregnancy or trauma | rel=r_associated | relid=0 | w=34
  1770. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | rel=r_associated | relid=0 | w=34
  1771. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:symptoms precipitated by stress, exertion, fatigue, alcohol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by stress, exertion, fatigue, alcohol | rel=r_associated | relid=0 | w=34
  1772. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:symptoms progress with worsening myopathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms progress with worsening myopathy | rel=r_associated | relid=0 | w=34
  1773. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:symptoms typically begin in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms typically begin in childhood | rel=r_associated | relid=0 | w=34
  1774. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | rel=r_associated | relid=0 | w=34
  1775. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:therapy is placement of implantable cardioverter defibrillator (icd)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=34
  1776. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:there are several subtypes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:there are several subtypes | rel=r_associated | relid=0 | w=34
  1777. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three families have been reported (as of 28 june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (as of 28 june 2011) | rel=r_associated | relid=0 | w=34
  1778. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three families have been reported (last curated april 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (last curated april 2011) | rel=r_associated | relid=0 | w=34
  1779. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three families have been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=34
  1780. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three patients have been reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=34
  1781. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three sibs born of consanguineous arab parents have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  1782. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three unrelated families have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=34
  1783. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three unrelated girls have been reported (as of july 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated girls have been reported (as of july 2011) | rel=r_associated | relid=0 | w=34
  1784. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three unrelated males have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated males have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  1785. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three unrelated patients have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  1786. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three unrelated patients have been reported (last curated july 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=34
  1787. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | rel=r_associated | relid=0 | w=34
  1788. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:thromboembolism is the most common cause of death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:thromboembolism is the most common cause of death | rel=r_associated | relid=0 | w=34
  1789. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | rel=r_associated | relid=0 | w=34
  1790. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | rel=r_associated | relid=0 | w=34
  1791. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:tumor predisposition syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tumor predisposition syndrome | rel=r_associated | relid=0 | w=34
  1792. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two affected sibs have been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two affected sibs have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=34
  1793. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | rel=r_associated | relid=0 | w=34
  1794. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two families have been reported (last curated december 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=34
  1795. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two families have been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1796. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two japanese families have been reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two japanese families have been reported (as of february 2012) | rel=r_associated | relid=0 | w=34
  1797. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two loci control synthesis of c4, c4a (120810) and c4b (120820)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | rel=r_associated | relid=0 | w=34
  1798. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two patients with a wws phenotype have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients with a wws phenotype have been reported | rel=r_associated | relid=0 | w=34
  1799. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | rel=r_associated | relid=0 | w=34
  1800. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two sibs have been reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=34
  1801. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two sibs, a boy and a girl, have been reported (as of july 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs, a boy and a girl, have been reported (as of july 2009) | rel=r_associated | relid=0 | w=34
  1802. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells | rel=r_associated | relid=0 | w=34
  1803. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two types - severe infantile form (type i) and milder form (type ii)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two types - severe infantile form (type i) and milder form (type ii) | rel=r_associated | relid=0 | w=34
  1804. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated consanguineous families have been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated consanguineous families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34
  1805. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=34
  1806. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=34
  1807. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1808. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=34
  1809. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=34
  1810. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated september 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated september 2012) | rel=r_associated | relid=0 | w=34
  1811. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=34
  1812. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated december 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=34
  1813. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=34
  1814. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated march 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated march 2014) | rel=r_associated | relid=0 | w=34
  1815. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=34
  1816. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> 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:two unrelated families have been reported (last curated february 2016) | 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=34
  1817. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=34
  1818. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:type i onset at 8 to 15 months of age after normal development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type i onset at 8 to 15 months of age after normal development | rel=r_associated | relid=0 | w=34
  1819. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | rel=r_associated | relid=0 | w=34
  1820. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:type ii patients are usually japanese and have significant aprt activity (10-25%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | rel=r_associated | relid=0 | w=34
  1821. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | rel=r_associated | relid=0 | w=34
  1822. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | rel=r_associated | relid=0 | w=34
  1823. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:uncommon disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:uncommon disorder | rel=r_associated | relid=0 | w=34
  1824. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:uniparental disomy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:uniparental disomy | rel=r_associated | relid=0 | w=34
  1825. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:up to 60% of female mutation carriers develop lobular breast cancer
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:up to 60% of female mutation carriers develop lobular breast cancer | rel=r_associated | relid=0 | w=34
  1826. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:usually a sporadic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually a sporadic disorder | rel=r_associated | relid=0 | w=34
  1827. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:usually clinically asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually clinically asymptomatic | rel=r_associated | relid=0 | w=34
  1828. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:usually sporadic, but 1-2% of cases are familial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually sporadic, but 1-2% of cases are familial | rel=r_associated | relid=0 | w=34
  1829. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (childhood to adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (childhood to adulthood) | rel=r_associated | relid=0 | w=34
  1830. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (earliest reported 7 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (earliest reported 7 years) | rel=r_associated | relid=0 | w=34
  1831. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 25 to 78 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 25 to 78 years) | rel=r_associated | relid=0 | w=34
  1832. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 8 to 60 years, mean 32)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 8 to 60 years, mean 32) | rel=r_associated | relid=0 | w=34
  1833. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range adolescence to late adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range adolescence to late adulthood) | rel=r_associated | relid=0 | w=34
  1834. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range late infancy to adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range late infancy to adulthood) | rel=r_associated | relid=0 | w=34
  1835. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range teens to late adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range teens to late adult) | rel=r_associated | relid=0 | w=34
  1836. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset, early childhood to adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, early childhood to adult | rel=r_associated | relid=0 | w=34
  1837. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age at onset, infancy to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, infancy to adulthood | rel=r_associated | relid=0 | w=34
  1838. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age of onset (6 to 35 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (6 to 35 years) | rel=r_associated | relid=0 | w=34
  1839. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age of onset (childhood to young adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (childhood to young adulthood) | rel=r_associated | relid=0 | w=34
  1840. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable age of onset (range early childhood to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (range early childhood to adult) | rel=r_associated | relid=0 | w=34
  1841. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable extraneurologic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable extraneurologic features | rel=r_associated | relid=0 | w=34
  1842. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable frequency (2 per day up to 1 per month)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable frequency (2 per day up to 1 per month) | rel=r_associated | relid=0 | w=34
  1843. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable heat tolerance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable heat tolerance | rel=r_associated | relid=0 | w=34
  1844. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable ictal semiology
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable ictal semiology | rel=r_associated | relid=0 | w=34
  1845. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable phenotype (range from completely female to males with mild undermasculinization)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype (range from completely female to males with mild undermasculinization) | rel=r_associated | relid=0 | w=34
  1846. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable phenotype ranging from woolly to sparse hair, even within a single family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype ranging from woolly to sparse hair, even within a single family | rel=r_associated | relid=0 | w=34
  1847. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable phenotype within and between oi5 families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype within and between oi5 families | rel=r_associated | relid=0 | w=34
  1848. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:variable severity, ranging from 'typical' to 'severe' disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity, ranging from 'typical' to 'severe' disease | rel=r_associated | relid=0 | w=34
  1849. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:vhl type 1 - renal carcinoma and hemangioblastoma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:vhl type 1 - renal carcinoma and hemangioblastoma | rel=r_associated | relid=0 | w=34
  1850. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:visceral manifestations are less apparent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visceral manifestations are less apparent | rel=r_associated | relid=0 | w=34
  1851. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:visual acuity varies from 20/20 to no light perception
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visual acuity varies from 20/20 to no light perception | rel=r_associated | relid=0 | w=34
  1852. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:wheelchair use at 20-30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wheelchair use at 20-30 years | rel=r_associated | relid=0 | w=34
  1853. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:wide range of onset from childhood to adult (10 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide range of onset from childhood to adult (10 to 50 years) | rel=r_associated | relid=0 | w=34
  1854. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 34 / 0.791 -> en:young adult onset (range 13 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:young adult onset (range 13 to 50 years) | rel=r_associated | relid=0 | w=34
  1855. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:(2) intermittent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(2) intermittent | rel=r_associated | relid=0 | w=32
  1856. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:(3) adult nonnephropathic (219750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=32
  1857. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:1 in 19,000 in japan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:1 in 19,000 in japan | rel=r_associated | relid=0 | w=32
  1858. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:14 patients in 8 recessive kindreds reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:14 patients in 8 recessive kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=32
  1859. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:15 patients from 5 kindreds reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:15 patients from 5 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=32
  1860. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | rel=r_associated | relid=0 | w=32
  1861. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:7 unrelated patients have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:7 unrelated patients have been reported | rel=r_associated | relid=0 | w=32
  1862. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:80% cases new mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:80% cases new mutations | rel=r_associated | relid=0 | w=32
  1863. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | rel=r_associated | relid=0 | w=32
  1864. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:about 5% of patients have a history of febrile seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 5% of patients have a history of febrile seizures | rel=r_associated | relid=0 | w=32
  1865. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:about 8% of female mutation carriers develop dilated cardiomyopathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 8% of female mutation carriers develop dilated cardiomyopathy | rel=r_associated | relid=0 | w=32
  1866. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:about half of individuals are asymptomatic and identified by newborn screening programs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about half of individuals are asymptomatic and identified by newborn screening programs | rel=r_associated | relid=0 | w=32
  1867. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:acquired disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acquired disorder | rel=r_associated | relid=0 | w=32
  1868. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:acute attacks lasting 24-48 hours
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acute attacks lasting 24-48 hours | rel=r_associated | relid=0 | w=32
  1869. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | rel=r_associated | relid=0 | w=32
  1870. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:adult onset (mean age 37 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (mean age 37 years) | rel=r_associated | relid=0 | w=32
  1871. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:adult onset (range 12 to 59 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 12 to 59 years) | rel=r_associated | relid=0 | w=32
  1872. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:adult onset of symptoms has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset of symptoms has been reported | rel=r_associated | relid=0 | w=32
  1873. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:adult-onset (range early twenties to forties)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult-onset (range early twenties to forties) | rel=r_associated | relid=0 | w=32
  1874. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | rel=r_associated | relid=0 | w=32
  1875. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:affected individuals may have learning or behavioral problems during the period when seizures occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals may have learning or behavioral problems during the period when seizures occur | rel=r_associated | relid=0 | w=32
  1876. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:affected individuals may have more than 1 cardiac structural defect, or none at all
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=32
  1877. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:affected patients have various combinations of the main clinical features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected patients have various combinations of the main clinical features | rel=r_associated | relid=0 | w=32
  1878. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age at first pregnancy:time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at first pregnancy:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=32
  1879. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age at onset 3 to 23 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset 3 to 23 years | rel=r_associated | relid=0 | w=32
  1880. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age at onset from 3 to 51 years (mean 19.2 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=32
  1881. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age of onset 1 to 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 1 to 2 years | rel=r_associated | relid=0 | w=32
  1882. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age of onset 30 to 60 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 30 to 60 years | rel=r_associated | relid=0 | w=32
  1883. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age of onset from 18 to 45 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset from 18 to 45 years | rel=r_associated | relid=0 | w=32
  1884. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age of onset of upper limb involvement 10-43 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset of upper limb involvement 10-43 years | rel=r_associated | relid=0 | w=32
  1885. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age of onset ranges from infancy to young adulthood (6 months-19 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | rel=r_associated | relid=0 | w=32
  1886. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age:time:pt:^egg donor:qn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age:time:pt:^egg donor:qn | rel=r_associated | relid=0 | w=32
  1887. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:age:time:pt:^patient:qn:reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age:time:pt:^patient:qn:reported | rel=r_associated | relid=0 | w=32
  1888. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  1889. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:all reported cases have resulted from de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all reported cases have resulted from de novo mutations | rel=r_associated | relid=0 | w=32
  1890. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to androgen insensitivity syndrome (ais, 300068)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | rel=r_associated | relid=0 | w=32
  1891. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to autosomal dominant spg13 (605280)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal dominant spg13 (605280) | rel=r_associated | relid=0 | w=32
  1892. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | rel=r_associated | relid=0 | w=32
  1893. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  1894. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to duane-radial ray syndrome (drrs, 607323)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | rel=r_associated | relid=0 | w=32
  1895. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | rel=r_associated | relid=0 | w=32
  1896. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | rel=r_associated | relid=0 | w=32
  1897. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to juvenile nephronophthisis-1 (256100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to juvenile nephronophthisis-1 (256100) | rel=r_associated | relid=0 | w=32
  1898. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | rel=r_associated | relid=0 | w=32
  1899. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to paramyotonia congenita (168300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to paramyotonia congenita (168300) | rel=r_associated | relid=0 | w=32
  1900. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to usher syndrome type 1f (602083)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to usher syndrome type 1f (602083) | rel=r_associated | relid=0 | w=32
  1901. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | rel=r_associated | relid=0 | w=32
  1902. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  1903. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | rel=r_associated | relid=0 | w=32
  1904. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | rel=r_associated | relid=0 | w=32
  1905. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic to hawkinsinuria (140350)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to hawkinsinuria (140350) | rel=r_associated | relid=0 | w=32
  1906. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic to several forms of autosomal recessive cmt (see 214400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to several forms of autosomal recessive cmt (see 214400) | rel=r_associated | relid=0 | w=32
  1907. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  1908. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:allelic to waardenburg syndrome, type iia (193510)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to waardenburg syndrome, type iia (193510) | rel=r_associated | relid=0 | w=32
  1909. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:an autosomal recessive form has been reported (269720)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:an autosomal recessive form has been reported (269720) | rel=r_associated | relid=0 | w=32
  1910. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | rel=r_associated | relid=0 | w=32
  1911. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | rel=r_associated | relid=0 | w=32
  1912. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:apparent in newborn at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:apparent in newborn at birth | rel=r_associated | relid=0 | w=32
  1913. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:approximately 12 patients have been reported (as of march 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 12 patients have been reported (as of march 2010) | rel=r_associated | relid=0 | w=32
  1914. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:approximately half of cases are due to de novo deletions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately half of cases are due to de novo deletions | rel=r_associated | relid=0 | w=32
  1915. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:approximately one-third of patients become seizure-free with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately one-third of patients become seizure-free with age | rel=r_associated | relid=0 | w=32
  1916. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:associated with fragile x syndrome (300624)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with fragile x syndrome (300624) | rel=r_associated | relid=0 | w=32
  1917. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:associated with idiopathic generalized epilepsy (ige, 600669)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with idiopathic generalized epilepsy (ige, 600669) | rel=r_associated | relid=0 | w=32
  1918. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:attacks rarely occur before puberty (hcp)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks rarely occur before puberty (hcp) | rel=r_associated | relid=0 | w=32
  1919. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:autosomal dominant inheritance has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=32
  1920. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:autosomal dominant omodysplasia has also been described (164745)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant omodysplasia has also been described (164745) | rel=r_associated | relid=0 | w=32
  1921. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | rel=r_associated | relid=0 | w=32
  1922. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:average age at diagnosis 17.8 years (range 2-35 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=32
  1923. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:average age at onset is 24 years (range 4 to 58 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset is 24 years (range 4 to 58 years) | rel=r_associated | relid=0 | w=32
  1924. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on 2 reports of 3 patients (last curated september 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 reports of 3 patients (last curated september 2012) | rel=r_associated | relid=0 | w=32
  1925. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on 2 siblings in 1 family (last curated september 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 siblings in 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=32
  1926. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on a report of 2 monozygotic twin girls (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | rel=r_associated | relid=0 | w=32
  1927. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on a report of one dutch family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on a report of one dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=32
  1928. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on one 4-generation italian family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one 4-generation italian family (last curated august 2015) | rel=r_associated | relid=0 | w=32
  1929. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | rel=r_associated | relid=0 | w=32
  1930. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 1 family (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 family (last curated december 2015) | rel=r_associated | relid=0 | w=32
  1931. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 1 family (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 family (last curated february 2015) | rel=r_associated | relid=0 | w=32
  1932. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 1 family (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 family (last curated october 2014) | rel=r_associated | relid=0 | w=32
  1933. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 1 large 6-generation family (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 large 6-generation family (last curated july 2015) | rel=r_associated | relid=0 | w=32
  1934. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | rel=r_associated | relid=0 | w=32
  1935. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 probands (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 probands (last curated october 2014) | rel=r_associated | relid=0 | w=32
  1936. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 unrelated japanese girls (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 unrelated japanese girls (last curated october 2015) | rel=r_associated | relid=0 | w=32
  1937. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of 3 unrelated patients (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 3 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=32
  1938. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on report of one polish roma patient (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of one polish roma patient (last curated november 2014) | rel=r_associated | relid=0 | w=32
  1939. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:based on the report of 1 consanguineous arab family (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on the report of 1 consanguineous arab family (last curated january 2014) | rel=r_associated | relid=0 | w=32
  1940. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:benign, asymptomatic defect
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:benign, asymptomatic defect | rel=r_associated | relid=0 | w=32
  1941. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:birth incidence approximately 5.1 per million live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:birth incidence approximately 5.1 per million live births | rel=r_associated | relid=0 | w=32
  1942. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:bleeding is usually delayed-onset after challenge
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=32
  1943. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:both autosomal dominant and autosomal recessive inheritance have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both autosomal dominant and autosomal recessive inheritance have been reported | rel=r_associated | relid=0 | w=32
  1944. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:both heterozygous and homozygous pax3 mutations have been found
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both heterozygous and homozygous pax3 mutations have been found | rel=r_associated | relid=0 | w=32
  1945. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:brain anomalies variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:brain anomalies variable | rel=r_associated | relid=0 | w=32
  1946. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy'
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  1947. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:carrier females may have mild intellectual disability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=32
  1948. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:cataract evident at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cataract evident at birth | rel=r_associated | relid=0 | w=32
  1949. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:cataracts develop by second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cataracts develop by second decade of life | rel=r_associated | relid=0 | w=32
  1950. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:cataracts present at birth or develop in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cataracts present at birth or develop in infancy | rel=r_associated | relid=0 | w=32
  1951. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | rel=r_associated | relid=0 | w=32
  1952. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  1953. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:characterized by calf weakness at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:characterized by calf weakness at onset | rel=r_associated | relid=0 | w=32
  1954. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:child often can sit unsupported but never ambulates
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=32
  1955. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:childhood onset (average 4 to 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood onset (average 4 to 6 years) | rel=r_associated | relid=0 | w=32
  1956. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:childhood onset has been reported in 1 family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood onset has been reported in 1 family | rel=r_associated | relid=0 | w=32
  1957. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | rel=r_associated | relid=0 | w=32
  1958. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:clinical and biochemical abnormalities disappear with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=32
  1959. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:clinical and biochemical abnormalities improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical and biochemical abnormalities improve with age | rel=r_associated | relid=0 | w=32
  1960. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:clinical overlap with charcot-marie-tooth disease type 2c (606071)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | rel=r_associated | relid=0 | w=32
  1961. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:clinical overlap with dejerine-sottas syndrome (dss, 145900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=32
  1962. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:clinical variation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical variation | rel=r_associated | relid=0 | w=32
  1963. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:conduction defect is progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:conduction defect is progressive | rel=r_associated | relid=0 | w=32
  1964. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:congenital or early onset hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital or early onset hearing loss | rel=r_associated | relid=0 | w=32
  1965. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | rel=r_associated | relid=0 | w=32
  1966. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:contiguous gene deletion syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=32
  1967. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:contractures at birth or difficulties in the neonatal period resolve
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contractures at birth or difficulties in the neonatal period resolve | rel=r_associated | relid=0 | w=32
  1968. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:corneal diameter decreases with decreasing axial length
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:corneal diameter decreases with decreasing axial length | rel=r_associated | relid=0 | w=32
  1969. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:corneal steepening is proportional to the degree of axial foreshortening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:corneal steepening is proportional to the degree of axial foreshortening | rel=r_associated | relid=0 | w=32
  1970. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:crisis precipitated by high altitude exposure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:crisis precipitated by high altitude exposure | rel=r_associated | relid=0 | w=32
  1971. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:de novo deletions in 8% of patients (preferentially paternally derived)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo deletions in 8% of patients (preferentially paternally derived) | rel=r_associated | relid=0 | w=32
  1972. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:de novo mutation identified in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutation identified in some patients | rel=r_associated | relid=0 | w=32
  1973. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death before age 15 in iia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death before age 15 in iia | rel=r_associated | relid=0 | w=32
  1974. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death by age 5 (infantile form)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death by age 5 (infantile form) | rel=r_associated | relid=0 | w=32
  1975. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death in childhood is frequent due to respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood is frequent due to respiratory failure | rel=r_associated | relid=0 | w=32
  1976. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death in childhood secondary to malabsorption
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood secondary to malabsorption | rel=r_associated | relid=0 | w=32
  1977. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy | rel=r_associated | relid=0 | w=32
  1978. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death in infancy secondary to respiratory insufficiency/pneumonia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=32
  1979. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death in utero or early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in utero or early infancy | rel=r_associated | relid=0 | w=32
  1980. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death occurs before 12 months of age due to cardiorespiratory arrest
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death occurs before 12 months of age due to cardiorespiratory arrest | rel=r_associated | relid=0 | w=32
  1981. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death often occurs in the first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often occurs in the first decade | rel=r_associated | relid=0 | w=32
  1982. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death often secondary to pneumonia or congestive heart failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often secondary to pneumonia or congestive heart failure | rel=r_associated | relid=0 | w=32
  1983. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:death within several months if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within several months if untreated | rel=r_associated | relid=0 | w=32
  1984. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:delayed psychomotor development apparent in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:delayed psychomotor development apparent in infancy | rel=r_associated | relid=0 | w=32
  1985. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  1986. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:diagnosis within the first 3 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=32
  1987. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:disease is life-threatening if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease is life-threatening if untreated | rel=r_associated | relid=0 | w=32
  1988. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=32
  1989. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:dryness and impaired vision in older adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dryness and impaired vision in older adults | rel=r_associated | relid=0 | w=32
  1990. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:dysmorphic features may be subtle
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic features may be subtle | rel=r_associated | relid=0 | w=32
  1991. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:early age of onset (approximately 45 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early age of onset (approximately 45 years) | rel=r_associated | relid=0 | w=32
  1992. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:early death may occur from cardiogenic shock preceded by arrhythmia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death may occur from cardiogenic shock preceded by arrhythmia | rel=r_associated | relid=0 | w=32
  1993. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:early death often due to respiratory complications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death often due to respiratory complications | rel=r_associated | relid=0 | w=32
  1994. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:early exhaustion on exertion
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early exhaustion on exertion | rel=r_associated | relid=0 | w=32
  1995. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:early onset (average 1 year)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset (average 1 year) | rel=r_associated | relid=0 | w=32
  1996. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | rel=r_associated | relid=0 | w=32
  1997. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:endocrine defects evolve over time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:endocrine defects evolve over time | rel=r_associated | relid=0 | w=32
  1998. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:episodes are followed by exhaustion and sleep
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes are followed by exhaustion and sleep | rel=r_associated | relid=0 | w=32
  1999. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:episodes last 2 days to 1 week
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes last 2 days to 1 week | rel=r_associated | relid=0 | w=32
  2000. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:episodes tend to decrease with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes tend to decrease with age | rel=r_associated | relid=0 | w=32
  2001. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:episodes typically last 2 to 5 minutes and occur daily or several times per month
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | rel=r_associated | relid=0 | w=32
  2002. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | rel=r_associated | relid=0 | w=32
  2003. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:extreme variability in severity of features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:extreme variability in severity of features | rel=r_associated | relid=0 | w=32
  2004. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:eye involvement begins at birth, neurologic involvement begins later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=32
  2005. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:facial dysmorphic features are mild
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=32
  2006. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:familial occurrence is rare
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=32
  2007. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:fatal in the neonatal period (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal in the neonatal period (in some patients) | rel=r_associated | relid=0 | w=32
  2008. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:fatal without bone marrow transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal without bone marrow transplantation | rel=r_associated | relid=0 | w=32
  2009. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:favorable response to 3,4-diaminopyridine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=32
  2010. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:favorable response to antiepileptic medication
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to antiepileptic medication | rel=r_associated | relid=0 | w=32
  2011. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:favorable response to corticosteroid treatment (1 family)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to corticosteroid treatment (1 family) | rel=r_associated | relid=0 | w=32
  2012. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:favorable response to rituxan (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to rituxan (in some patients) | rel=r_associated | relid=0 | w=32
  2013. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:favorable response to treatment with cholinesterase inhibitors or amifampridine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | rel=r_associated | relid=0 | w=32
  2014. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:favorable response to treatment with minocycline or azithromycin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to treatment with minocycline or azithromycin | rel=r_associated | relid=0 | w=32
  2015. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:favoring of fat and protein
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favoring of fat and protein | rel=r_associated | relid=0 | w=32
  2016. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:features are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features are variable | rel=r_associated | relid=0 | w=32
  2017. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:features in addition to mental retardation are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features in addition to mental retardation are variable | rel=r_associated | relid=0 | w=32
  2018. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | rel=r_associated | relid=0 | w=32
  2019. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:febrile attacks disappear in adulthood in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:febrile attacks disappear in adulthood in some patients | rel=r_associated | relid=0 | w=32
  2020. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:female carriers experience significant clinical manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers experience significant clinical manifestations | rel=r_associated | relid=0 | w=32
  2021. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:females are more often affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females are more often affected | rel=r_associated | relid=0 | w=32
  2022. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:fishy body odor
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fishy body odor | rel=r_associated | relid=0 | w=32
  2023. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:following fever in infancy, muscular weakness and poor growth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:following fever in infancy, muscular weakness and poor growth | rel=r_associated | relid=0 | w=32
  2024. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:four patients have been reported (as of december 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=32
  2025. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:four patients have been reported (as of july 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=32
  2026. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:four sibs from the old order mennonite community has been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=32
  2027. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:four unrelated families have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=32
  2028. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:four unrelated patients have been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
  2029. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:gender-specific phenotype (homozygous men are fertile)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gender-specific phenotype (homozygous men are fertile) | rel=r_associated | relid=0 | w=32
  2030. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:generally considered to be a benign disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:generally considered to be a benign disorder | rel=r_associated | relid=0 | w=32
  2031. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:generally static disease course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:generally static disease course | rel=r_associated | relid=0 | w=32
  2032. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2033. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 161400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 161400) | rel=r_associated | relid=0 | w=32
  2034. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  2035. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see coxpd1, 609060)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see coxpd1, 609060) | rel=r_associated | relid=0 | w=32
  2036. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | rel=r_associated | relid=0 | w=32
  2037. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=32
  2038. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see hhf1 256450)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see hhf1 256450) | rel=r_associated | relid=0 | w=32
  2039. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see mcc2 deficiency 210210)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see mcc2 deficiency 210210) | rel=r_associated | relid=0 | w=32
  2040. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see rls2, 608831)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see rls2, 608831) | rel=r_associated | relid=0 | w=32
  2041. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | rel=r_associated | relid=0 | w=32
  2042. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see evr1 (133780)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see evr1 (133780) | rel=r_associated | relid=0 | w=32
  2043. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | rel=r_associated | relid=0 | w=32
  2044. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | rel=r_associated | relid=0 | w=32
  2045. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see ppnad2 (610475)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see ppnad2 (610475) | rel=r_associated | relid=0 | w=32
  2046. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:germline or somatic mutations may cause the disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:germline or somatic mutations may cause the disorder | rel=r_associated | relid=0 | w=32
  2047. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:good response to immunotherapy (intravenous igg or plasmapheresis)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to immunotherapy (intravenous igg or plasmapheresis) | rel=r_associated | relid=0 | w=32
  2048. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=32
  2049. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:group a patients die in the first years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:group a patients die in the first years of life | rel=r_associated | relid=0 | w=32
  2050. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:growth retardation onset in utero
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:growth retardation onset in utero | rel=r_associated | relid=0 | w=32
  2051. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hairy elbows become apparent in infancy and regress during adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hairy elbows become apparent in infancy and regress during adolescence | rel=r_associated | relid=0 | w=32
  2052. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hearing impairment may improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing impairment may improve with age | rel=r_associated | relid=0 | w=32
  2053. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hearing loss typically begins between 3 and 4 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss typically begins between 3 and 4 years of age | rel=r_associated | relid=0 | w=32
  2054. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hearing loss was progressive in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss was progressive in some patients | rel=r_associated | relid=0 | w=32
  2055. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:heterogeneous disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterogeneous disorder | rel=r_associated | relid=0 | w=32
  2056. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:heterozygotes may exhibit syndromic manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes may exhibit syndromic manifestations | rel=r_associated | relid=0 | w=32
  2057. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | rel=r_associated | relid=0 | w=32
  2058. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:heterozygous mutation carriers may show mild symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous mutation carriers may show mild symptoms | rel=r_associated | relid=0 | w=32
  2059. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:heterozygous mutation present in 5-7% of the japanese population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous mutation present in 5-7% of the japanese population | rel=r_associated | relid=0 | w=32
  2060. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:high incidence among ashkenazi jews
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high incidence among ashkenazi jews | rel=r_associated | relid=0 | w=32
  2061. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:high occurrence of de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high occurrence of de novo mutations | rel=r_associated | relid=0 | w=32
  2062. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:highly variable age at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable age at onset | rel=r_associated | relid=0 | w=32
  2063. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=32
  2064. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:highly variable phenotype, even within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=32
  2065. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:highly variable severity of muscle weakness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable severity of muscle weakness | rel=r_associated | relid=0 | w=32
  2066. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | rel=r_associated | relid=0 | w=32
  2067. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2068. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=32
  2069. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hyperthermia in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=32
  2070. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:hypothyroidism is less severe in individuals with high dietary iodine intake
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=32
  2071. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | rel=r_associated | relid=0 | w=32
  2072. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:immunologic defects are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=32
  2073. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | rel=r_associated | relid=0 | w=32
  2074. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:in most cases capillary lesions are multifocal at birth and may increase in number with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | rel=r_associated | relid=0 | w=32
  2075. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:incidence in japan is 1 in 57,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence in japan is 1 in 57,000 | rel=r_associated | relid=0 | w=32
  2076. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:incidence in the finnish population of 0.2-1.3 cases per million per year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence in the finnish population of 0.2-1.3 cases per million per year | rel=r_associated | relid=0 | w=32
  2077. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 480 among old order amish
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 480 among old order amish | rel=r_associated | relid=0 | w=32
  2078. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:incidence, 1 in 650-1000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence, 1 in 650-1000 live births | rel=r_associated | relid=0 | w=32
  2079. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:incomplete penetrance with 45 to 51 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=32
  2080. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:increased frequency among individuals of ashkenazi jewish descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency among individuals of ashkenazi jewish descent | rel=r_associated | relid=0 | w=32
  2081. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:increased frequency among jewish iranian individuals from isfahan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency among jewish iranian individuals from isfahan | rel=r_associated | relid=0 | w=32
  2082. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:increased frequency in finland (incidence 1:60,000 finnish newborns)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | rel=r_associated | relid=0 | w=32
  2083. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> 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:two unrelated families have been reported (last curated february 2016) | 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=32
  2084. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:increased frequency in the dariusleut hutterites (canada)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in the dariusleut hutterites (canada) | rel=r_associated | relid=0 | w=32
  2085. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:increased risk of early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=32
  2086. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:increasing hypertension with increasing age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increasing hypertension with increasing age | rel=r_associated | relid=0 | w=32
  2087. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:infantile form accounts for 90% of cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=32
  2088. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:infantile form has onset within first 6 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=32
  2089. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:infantile onset with hepatic involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=32
  2090. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:infants are stillborn or die shortly after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=32
  2091. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | rel=r_associated | relid=0 | w=32
  2092. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | rel=r_associated | relid=0 | w=32
  2093. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | rel=r_associated | relid=0 | w=32
  2094. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:joint replacement often necessary
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:joint replacement often necessary | rel=r_associated | relid=0 | w=32
  2095. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:kid syndrome and hid syndrome are identical at the molecular level
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:kid syndrome and hid syndrome are identical at the molecular level | rel=r_associated | relid=0 | w=32
  2096. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | rel=r_associated | relid=0 | w=32
  2097. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:laboratory director name:pn:pt:provider:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:laboratory director name:pn:pt:provider:nom | rel=r_associated | relid=0 | w=32
  2098. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:last name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:last name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=32
  2099. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:late-onset, slowly progressing form of retinitis pigmentosa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=32
  2100. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:later onset of neurologic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=32
  2101. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:lesions apparent at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=32
  2102. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:lethal in the neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lethal in the neonatal period | rel=r_associated | relid=0 | w=32
  2103. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:lethal in utero or perinatal lethal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=32
  2104. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | rel=r_associated | relid=0 | w=32
  2105. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:limited clinical information due to surgical removal of lens in affected individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limited clinical information due to surgical removal of lens in affected individuals | rel=r_associated | relid=0 | w=32
  2106. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:loss of independent ambulation (in 2 of 3 patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss of independent ambulation (in 2 of 3 patients) | rel=r_associated | relid=0 | w=32
  2107. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:lymphedema resolves by age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lymphedema resolves by age 3 years | rel=r_associated | relid=0 | w=32
  2108. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:majority cases are sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority cases are sporadic | rel=r_associated | relid=0 | w=32
  2109. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:majority of cases (95%) are sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=32
  2110. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | rel=r_associated | relid=0 | w=32
  2111. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:male infertility
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male infertility | rel=r_associated | relid=0 | w=32
  2112. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:malnutrition can be severe, requiring total parenteral nutrition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:malnutrition can be severe, requiring total parenteral nutrition | rel=r_associated | relid=0 | w=32
  2113. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:manifestations continue to appear until 5th decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=32
  2114. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:many patients lose independent mobility after 25 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=32
  2115. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:marked clinical heterogeneity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked clinical heterogeneity | rel=r_associated | relid=0 | w=32
  2116. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:marked clinical variability within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=32
  2117. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:marked variability in severity of the skin lesions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32
  2118. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:marked variability in the deletion size
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked variability in the deletion size | rel=r_associated | relid=0 | w=32
  2119. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:maternal uniparental disomy (upd)7 reported in some cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:maternal uniparental disomy (upd)7 reported in some cases | rel=r_associated | relid=0 | w=32
  2120. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:may be same disorder as autosomal recessive optic atrophy 3 (258501)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | rel=r_associated | relid=0 | w=32
  2121. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=32
  2122. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:may not be clinically manifest until middle life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=32
  2123. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:may respond to cholinesterase inhibitors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may respond to cholinesterase inhibitors | rel=r_associated | relid=0 | w=32
  2124. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:may result in early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may result in early death | rel=r_associated | relid=0 | w=32
  2125. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:may result in early death from severe diarrhea
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may result in early death from severe diarrhea | rel=r_associated | relid=0 | w=32
  2126. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:may show good response to levodopa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=32
  2127. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mean age at diagnosis 16 years (range 6 to 22)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at diagnosis 16 years (range 6 to 22) | rel=r_associated | relid=0 | w=32
  2128. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mean age at diagnosis 8.8 years (range 0.2-23 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=32
  2129. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mean age at onset 12.5 years (range 2 to 15 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 12.5 years (range 2 to 15 years) | rel=r_associated | relid=0 | w=32
  2130. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mean age at onset 15.2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=32
  2131. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mean age at onset 48 years (range 38 to 64)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 48 years (range 38 to 64) | rel=r_associated | relid=0 | w=32
  2132. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mean age at onset for variant cjd is 29 years (before age 45 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset for variant cjd is 29 years (before age 45 years) | rel=r_associated | relid=0 | w=32
  2133. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:median age at diagnosis 7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age at diagnosis 7 years | rel=r_associated | relid=0 | w=32
  2134. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:median life expectancy, 13.4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median life expectancy, 13.4 years | rel=r_associated | relid=0 | w=32
  2135. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mild asymmetric regional disease (e.g. 180380.0029)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=32
  2136. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mild expression in heterozygous carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild expression in heterozygous carriers | rel=r_associated | relid=0 | w=32
  2137. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2138. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mode of inheritance is unclear
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mode of inheritance is unclear | rel=r_associated | relid=0 | w=32
  2139. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:more frequent in individuals of asian descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more frequent in individuals of asian descent | rel=r_associated | relid=0 | w=32
  2140. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most affected patients die in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most affected patients die in childhood | rel=r_associated | relid=0 | w=32
  2141. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most common cancer in men aged 15-40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common cancer in men aged 15-40 years | rel=r_associated | relid=0 | w=32
  2142. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most common disorder of fatty acid oxidation (1/13,000 births)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common disorder of fatty acid oxidation (1/13,000 births) | rel=r_associated | relid=0 | w=32
  2143. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most mutations occur de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most mutations occur de novo | rel=r_associated | relid=0 | w=32
  2144. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most patients are from finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are from finland | rel=r_associated | relid=0 | w=32
  2145. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most patients are severely affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are severely affected | rel=r_associated | relid=0 | w=32
  2146. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most patients become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become wheelchair-bound | rel=r_associated | relid=0 | w=32
  2147. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most patients die in the first days of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die in the first days of life | rel=r_associated | relid=0 | w=32
  2148. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2149. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most patients remain ambulatory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients remain ambulatory | rel=r_associated | relid=0 | w=32
  2150. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:most patients remain ambulatory in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients remain ambulatory in adulthood | rel=r_associated | relid=0 | w=32
  2151. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:motor neuropathy more prominent than sensory neuropathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor neuropathy more prominent than sensory neuropathy | rel=r_associated | relid=0 | w=32
  2152. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:motor symptoms are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor symptoms are variable | rel=r_associated | relid=0 | w=32
  2153. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | rel=r_associated | relid=0 | w=32
  2154. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | rel=r_associated | relid=0 | w=32
  2155. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mutation in the hcrt gene has been identified in 1 patient
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation in the hcrt gene has been identified in 1 patient | rel=r_associated | relid=0 | w=32
  2156. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  2157. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mutations are frequently maternally inherited
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutations are frequently maternally inherited | rel=r_associated | relid=0 | w=32
  2158. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:mutations result in inactivation of nkx3-2 (602183)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutations result in inactivation of nkx3-2 (602183) | rel=r_associated | relid=0 | w=32
  2159. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:nails appear normal at birth, with dystrophic changes developing within the first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | rel=r_associated | relid=0 | w=32
  2160. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:neonatal and late-infantile onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal and late-infantile onset | rel=r_associated | relid=0 | w=32
  2161. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:neonatal severe hyperparathyroidism in homozygotes (239200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal severe hyperparathyroidism in homozygotes (239200) | rel=r_associated | relid=0 | w=32
  2162. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:neuroendocrine recovery occurs in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neuroendocrine recovery occurs in some patients | rel=r_associated | relid=0 | w=32
  2163. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:neurologic deterioration is severe after age 2 to 2.5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic deterioration is severe after age 2 to 2.5 years | rel=r_associated | relid=0 | w=32
  2164. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:neurologic findings closely resemble those of huntington disease (hd, 143100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | rel=r_associated | relid=0 | w=32
  2165. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:neurologic symptoms may occur after trauma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic symptoms may occur after trauma | rel=r_associated | relid=0 | w=32
  2166. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:newborn period is critical for survival
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:newborn period is critical for survival | rel=r_associated | relid=0 | w=32
  2167. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:night blindness from early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:night blindness from early childhood | rel=r_associated | relid=0 | w=32
  2168. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | rel=r_associated | relid=0 | w=32
  2169. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:no clinical manifestations were noted (incidental laboratory finding)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no clinical manifestations were noted (incidental laboratory finding) | rel=r_associated | relid=0 | w=32
  2170. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:no family history, de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no family history, de novo mutations | rel=r_associated | relid=0 | w=32
  2171. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:no features consistent with cystic fibrosis found in these patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no features consistent with cystic fibrosis found in these patients | rel=r_associated | relid=0 | w=32
  2172. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:no mutations reported in la reunion island patients (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no mutations reported in la reunion island patients (last curated august 2014) | rel=r_associated | relid=0 | w=32
  2173. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:no response or worsening with acetylcholinesterase inhibitors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no response or worsening with acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=32
  2174. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:no response to phenobarbital
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no response to phenobarbital | rel=r_associated | relid=0 | w=32
  2175. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:non-tender
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:non-tender | rel=r_associated | relid=0 | w=32
  2176. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:nonprogressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonprogressive | rel=r_associated | relid=0 | w=32
  2177. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:normal alleles contain 15 to 50 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal alleles contain 15 to 50 repeats | rel=r_associated | relid=0 | w=32
  2178. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:normal at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal at birth | rel=r_associated | relid=0 | w=32
  2179. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:normal neonatal blood phenylalanine has been reported in rare patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal neonatal blood phenylalanine has been reported in rare patients | rel=r_associated | relid=0 | w=32
  2180. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:normal range of expanded repeats 9-29, hd range 36-121
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal range of expanded repeats 9-29, hd range 36-121 | rel=r_associated | relid=0 | w=32
  2181. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:not all nails are affected in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not all nails are affected in some patients | rel=r_associated | relid=0 | w=32
  2182. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:not all patients have a myopathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not all patients have a myopathy | rel=r_associated | relid=0 | w=32
  2183. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> 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:two unrelated families have been reported (last curated february 2016) | 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=32
  2184. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:occasionally low-dose insulin required
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occasionally low-dose insulin required | rel=r_associated | relid=0 | w=32
  2185. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:occurs in ~3% pregnancies in western populations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in ~3% pregnancies in western populations | rel=r_associated | relid=0 | w=32
  2186. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:occurs in 1 in 50,000 newborn males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in 1 in 50,000 newborn males | rel=r_associated | relid=0 | w=32
  2187. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:occurs in about 1 in 10,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in about 1 in 10,000 births | rel=r_associated | relid=0 | w=32
  2188. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:odor of 'sweaty feet'
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:odor of 'sweaty feet' | rel=r_associated | relid=0 | w=32
  2189. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:often fatal in utero
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often fatal in utero | rel=r_associated | relid=0 | w=32
  2190. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:often unilateral involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often unilateral involvement | rel=r_associated | relid=0 | w=32
  2191. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=32
  2192. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one consanguineous turkish family has been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous turkish family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=32
  2193. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family and an unrelated patient have been reported (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family and an unrelated patient have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=32
  2194. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family from hong kong has been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family from hong kong has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=32
  2195. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family had normal cognitive and neurologic development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family had normal cognitive and neurologic development | rel=r_associated | relid=0 | w=32
  2196. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated december 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated december 2013) | rel=r_associated | relid=0 | w=32
  2197. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated march 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated march 2014) | rel=r_associated | relid=0 | w=32
  2198. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=32
  2199. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=32
  2200. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family has been reported with limited clinical information (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported with limited clinical information (last curated october 2014) | rel=r_associated | relid=0 | w=32
  2201. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family with 3 affected individuals has been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 3 affected individuals has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  2202. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32
  2203. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one french family has been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one french family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=32
  2204. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one italian family has been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one italian family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=32
  2205. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one likely consanguineous turkish family has been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one likely consanguineous turkish family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=32
  2206. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one patient died at 17 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient died at 17 months of age | rel=r_associated | relid=0 | w=32
  2207. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (as of sept 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of sept 2011) | rel=r_associated | relid=0 | w=32
  2208. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated november 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated november 2010) | rel=r_associated | relid=0 | w=32
  2209. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:only 46,xy individuals are affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only 46,xy individuals are affected | rel=r_associated | relid=0 | w=32
  2210. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:only individuals homozygous for risk or non-risk alleles were studied
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only individuals homozygous for risk or non-risk alleles were studied | rel=r_associated | relid=0 | w=32
  2211. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset 5 to 7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 5 to 7 years | rel=r_associated | relid=0 | w=32
  2212. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset 5-30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 5-30 years | rel=r_associated | relid=0 | w=32
  2213. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset 6 to 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 6 to 30 years | rel=r_associated | relid=0 | w=32
  2214. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset 8-20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 8-20 years | rel=r_associated | relid=0 | w=32
  2215. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset age 2 to 7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset age 2 to 7 years | rel=r_associated | relid=0 | w=32
  2216. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset age 20 to 51 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset age 20 to 51 years | rel=r_associated | relid=0 | w=32
  2217. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset at 4 to 10 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 4 to 10 years | rel=r_associated | relid=0 | w=32
  2218. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset before 50 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before 50 years of age | rel=r_associated | relid=0 | w=32
  2219. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset between 28-32 weeks of gestation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 28-32 weeks of gestation | rel=r_associated | relid=0 | w=32
  2220. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset between 6 and 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 6 and 15 years | rel=r_associated | relid=0 | w=32
  2221. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset between 7 and 18 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 7 and 18 years | rel=r_associated | relid=0 | w=32
  2222. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset birth to 6 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset birth to 6 months | rel=r_associated | relid=0 | w=32
  2223. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset by 3 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset by 3 years of age | rel=r_associated | relid=0 | w=32
  2224. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in childhood (ages 1.5 to 7 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (ages 1.5 to 7 years) | rel=r_associated | relid=0 | w=32
  2225. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in females ranges from third to seventh decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in females ranges from third to seventh decade | rel=r_associated | relid=0 | w=32
  2226. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade | rel=r_associated | relid=0 | w=32
  2227. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in first weeks or months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first weeks or months of life | rel=r_associated | relid=0 | w=32
  2228. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in fourth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in fourth decade | rel=r_associated | relid=0 | w=32
  2229. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in infancy of acute hypoglycemic episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy of acute hypoglycemic episodes | rel=r_associated | relid=0 | w=32
  2230. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or early childhood | rel=r_associated | relid=0 | w=32
  2231. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in infancy, but may not be diagnosed until later in mild cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy, but may not be diagnosed until later in mild cases | rel=r_associated | relid=0 | w=32
  2232. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in middle age (44 to 60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in middle age (44 to 60 years) | rel=r_associated | relid=0 | w=32
  2233. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in neonatal period or before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in neonatal period or before age 2 years | rel=r_associated | relid=0 | w=32
  2234. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2235. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in teens has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in teens has been reported | rel=r_associated | relid=0 | w=32
  2236. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in teens to late twenties (range 14 to 44 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in teens to late twenties (range 14 to 44 years) | rel=r_associated | relid=0 | w=32
  2237. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in the 3rd decade of life or later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the 3rd decade of life or later | rel=r_associated | relid=0 | w=32
  2238. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in the first decade (range birth to 8 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the first decade (range birth to 8 years) | rel=r_associated | relid=0 | w=32
  2239. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset in the second to fourth decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the second to fourth decades of life | rel=r_associated | relid=0 | w=32
  2240. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset mid to late adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset mid to late adulthood | rel=r_associated | relid=0 | w=32
  2241. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset occurs earlier in males than females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset occurs earlier in males than females | rel=r_associated | relid=0 | w=32
  2242. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of arthritis in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of arthritis in early childhood | rel=r_associated | relid=0 | w=32
  2243. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of blistering skin in infancy with improvement over time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of blistering skin in infancy with improvement over time | rel=r_associated | relid=0 | w=32
  2244. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of calf hypotrophy may occur earlier
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of calf hypotrophy may occur earlier | rel=r_associated | relid=0 | w=32
  2245. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | rel=r_associated | relid=0 | w=32
  2246. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of chronic progressive polyneuropathy in late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of chronic progressive polyneuropathy in late childhood | rel=r_associated | relid=0 | w=32
  2247. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of dilated cardiomyopathy less than 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of dilated cardiomyopathy less than 3 years | rel=r_associated | relid=0 | w=32
  2248. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of disease between 25 and 40 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease between 25 and 40 years of age | rel=r_associated | relid=0 | w=32
  2249. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of dysmorphic features and developmental delay in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of dysmorphic features and developmental delay in infancy | rel=r_associated | relid=0 | w=32
  2250. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of hand involvement at 14 to 60 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hand involvement at 14 to 60 years | rel=r_associated | relid=0 | w=32
  2251. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of hearing loss in late childhood or adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in late childhood or adolescence | rel=r_associated | relid=0 | w=32
  2252. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of illness often associated with acute infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of illness often associated with acute infection | rel=r_associated | relid=0 | w=32
  2253. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of lymphedema before puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of lymphedema before puberty | rel=r_associated | relid=0 | w=32
  2254. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of major clinical features in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of major clinical features in young adulthood | rel=r_associated | relid=0 | w=32
  2255. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of mild symptoms in first or second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of mild symptoms in first or second decade | rel=r_associated | relid=0 | w=32
  2256. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of overgrowth in the first year of life (in most cases)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=32
  2257. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of peripheral neuropathy in the first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of peripheral neuropathy in the first decade | rel=r_associated | relid=0 | w=32
  2258. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of renal failure in adulthood (range twenties to fifties)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of renal failure in adulthood (range twenties to fifties) | rel=r_associated | relid=0 | w=32
  2259. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of seizures between 8 and 11 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures between 8 and 11 months of age | rel=r_associated | relid=0 | w=32
  2260. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of sensory neuropathy in later adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of sensory neuropathy in later adulthood | rel=r_associated | relid=0 | w=32
  2261. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in adolescence or early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=32
  2262. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms often associated with nonspecific febrile illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms often associated with nonspecific febrile illness | rel=r_associated | relid=0 | w=32
  2263. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset of tumors usually in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of tumors usually in adulthood | rel=r_associated | relid=0 | w=32
  2264. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset usually before age 40 years (range 15 to 55)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually before age 40 years (range 15 to 55) | rel=r_associated | relid=0 | w=32
  2265. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset usually in childhood (range 17 months to 39 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood (range 17 months to 39 years) | rel=r_associated | relid=0 | w=32
  2266. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset usually in first to third decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in first to third decade of life | rel=r_associated | relid=0 | w=32
  2267. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset usually in infancy or early childhood (9 months to 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in infancy or early childhood (9 months to 6 years) | rel=r_associated | relid=0 | w=32
  2268. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:onset within first 3 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset within first 3 months of life | rel=r_associated | relid=0 | w=32
  2269. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:ophthalmologic signs onset in first to sixth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ophthalmologic signs onset in first to sixth decade | rel=r_associated | relid=0 | w=32
  2270. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:other half show head circumference more retarded than height
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:other half show head circumference more retarded than height | rel=r_associated | relid=0 | w=32
  2271. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:overlap with obsessive-compulsive disorder (ocd, 164230)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overlap with obsessive-compulsive disorder (ocd, 164230) | rel=r_associated | relid=0 | w=32
  2272. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:overlap with tourette syndrome (137580)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overlap with tourette syndrome (137580) | rel=r_associated | relid=0 | w=32
  2273. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:pain in lower limb
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pain in lower limb | rel=r_associated | relid=0 | w=32
  2274. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:pathogenic alleles have 19 to 33 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pathogenic alleles have 19 to 33 repeats | rel=r_associated | relid=0 | w=32
  2275. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients become wheelchair-bound as adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients become wheelchair-bound as adults | rel=r_associated | relid=0 | w=32
  2276. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients develop multiple tumors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients develop multiple tumors | rel=r_associated | relid=0 | w=32
  2277. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients from old order amish community and turkey have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients from old order amish community and turkey have been reported | rel=r_associated | relid=0 | w=32
  2278. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients may have recurrent infections due to immunosuppressive therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may have recurrent infections due to immunosuppressive therapy | rel=r_associated | relid=0 | w=32
  2279. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients may show normal development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may show normal development | rel=r_associated | relid=0 | w=32
  2280. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients retain ambulation even after long disease course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients retain ambulation even after long disease course | rel=r_associated | relid=0 | w=32
  2281. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients with later onset do not have dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with later onset do not have dysmorphic features | rel=r_associated | relid=0 | w=32
  2282. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:patients with total c4 deficiency are homozygous for double null c4 haplotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | rel=r_associated | relid=0 | w=32
  2283. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:peak age of onset in second decade (range childhood to 76 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:peak age of onset in second decade (range childhood to 76 years) | rel=r_associated | relid=0 | w=32
  2284. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:penetrance of disease is complete between 30 and 40 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:penetrance of disease is complete between 30 and 40 years of age | rel=r_associated | relid=0 | w=32
  2285. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:periventricular heterotopia (300049) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:periventricular heterotopia (300049) is an allelic disorder | rel=r_associated | relid=0 | w=32
  2286. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:persistence of febrile seizures beyond age 6 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:persistence of febrile seizures beyond age 6 years | rel=r_associated | relid=0 | w=32
  2287. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> 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:two unrelated families have been reported (last curated february 2016) | 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=32
  2288. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | rel=r_associated | relid=0 | w=32
  2289. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:phenotype may be influenced by maternal alcohol consumption during pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | rel=r_associated | relid=0 | w=32
  2290. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | rel=r_associated | relid=0 | w=32
  2291. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with desbuquois dysplasia (251450)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with desbuquois dysplasia (251450) | rel=r_associated | relid=0 | w=32
  2292. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | rel=r_associated | relid=0 | w=32
  2293. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:phenotypic variability, intrafamilial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic variability, intrafamilial | rel=r_associated | relid=0 | w=32
  2294. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:polyps occur in teens
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:polyps occur in teens | rel=r_associated | relid=0 | w=32
  2295. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:poor response to g-csf treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor response to g-csf treatment | rel=r_associated | relid=0 | w=32
  2296. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:poor response to l-dopa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor response to l-dopa | rel=r_associated | relid=0 | w=32
  2297. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:possible defect of a specific lipase in the pathway of free fatty acid oxidation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | rel=r_associated | relid=0 | w=32
  2298. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:possible favorable response to ketogenic diet
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible favorable response to ketogenic diet | rel=r_associated | relid=0 | w=32
  2299. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:possible x-linked dominant inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible x-linked dominant inheritance | rel=r_associated | relid=0 | w=32
  2300. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:preaxial involvement in approximately 60% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:preaxial involvement in approximately 60% of patients | rel=r_associated | relid=0 | w=32
  2301. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prelingual onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prelingual onset | rel=r_associated | relid=0 | w=32
  2302. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prenatal onset or onset in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal onset or onset in infancy | rel=r_associated | relid=0 | w=32
  2303. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2304. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | rel=r_associated | relid=0 | w=32
  2305. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:presenting symptoms in the upper body
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presenting symptoms in the upper body | rel=r_associated | relid=0 | w=32
  2306. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:presents as early-onset strokes in 43% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presents as early-onset strokes in 43% of patients | rel=r_associated | relid=0 | w=32
  2307. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prevalence 1/10,000-1/15,000 female births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence 1/10,000-1/15,000 female births | rel=r_associated | relid=0 | w=32
  2308. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prevalence in finland is 1 in 25,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in finland is 1 in 25,000 | rel=r_associated | relid=0 | w=32
  2309. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 28,000 african-americans
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 28,000 african-americans | rel=r_associated | relid=0 | w=32
  2310. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prevalence of 7 in 100,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 7 in 100,000 live births | rel=r_associated | relid=0 | w=32
  2311. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prevalence of essential tremor ranges from 0.4 to 6% in the general population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | rel=r_associated | relid=0 | w=32
  2312. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prevalence ranges from 1 in 12,000 to 1 in 50,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | rel=r_associated | relid=0 | w=32
  2313. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:prevalent in the old order amish in the u.s. and in finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in the old order amish in the u.s. and in finland | rel=r_associated | relid=0 | w=32
  2314. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:progressive clinical course with onset in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive clinical course with onset in childhood | rel=r_associated | relid=0 | w=32
  2315. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:progressive disorder regarding both neurologic and renal symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disorder regarding both neurologic and renal symptoms | rel=r_associated | relid=0 | w=32
  2316. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:rapid disease progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapid disease progression | rel=r_associated | relid=0 | w=32
  2317. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:rapidly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive | rel=r_associated | relid=0 | w=32
  2318. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:rare survival to teens
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rare survival to teens | rel=r_associated | relid=0 | w=32
  2319. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:rarely, patients may be asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rarely, patients may be asymptomatic | rel=r_associated | relid=0 | w=32
  2320. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:recessive inheritance has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recessive inheritance has been reported | rel=r_associated | relid=0 | w=32
  2321. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:reduced life expectancy, death by 10 years of age in 70% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced life expectancy, death by 10 years of age in 70% of patients | rel=r_associated | relid=0 | w=32
  2322. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:reduced penetrance (approximately 54%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance (approximately 54%) | rel=r_associated | relid=0 | w=32
  2323. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:reduced penetrance (approximately 87%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance (approximately 87%) | rel=r_associated | relid=0 | w=32
  2324. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=32
  2325. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=32
  2326. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:relationship of rare neuropsychiatric signs to histidinemia is unclear
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | rel=r_associated | relid=0 | w=32
  2327. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:reported in individuals of french canadian origin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in individuals of french canadian origin | rel=r_associated | relid=0 | w=32
  2328. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:resource identifier:uri:pt:study:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:resource identifier:uri:pt:study:nom | rel=r_associated | relid=0 | w=32
  2329. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:retinal holes were present in an asymptomatic female carrier
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=32
  2330. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:risk haplotype found in dutch families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk haplotype found in dutch families | rel=r_associated | relid=0 | w=32
  2331. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:risk of affected offspring in maternal translocation carrier - 4-10%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of affected offspring in maternal translocation carrier - 4-10% | rel=r_associated | relid=0 | w=32
  2332. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | rel=r_associated | relid=0 | w=32
  2333. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see 609888 for a discussion on leprosy susceptibility
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see 609888 for a discussion on leprosy susceptibility | rel=r_associated | relid=0 | w=32
  2334. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also adult-onset stiff person syndrome (184850)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also adult-onset stiff person syndrome (184850) | rel=r_associated | relid=0 | w=32
  2335. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | rel=r_associated | relid=0 | w=32
  2336. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also autosomal dominant form (128230)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant form (128230) | rel=r_associated | relid=0 | w=32
  2337. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also autosomal dominant peoa1 (157640)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant peoa1 (157640) | rel=r_associated | relid=0 | w=32
  2338. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  2339. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also dent disease 2 (300555)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also dent disease 2 (300555) | rel=r_associated | relid=0 | w=32
  2340. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also distal hmn2a (158590)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also distal hmn2a (158590) | rel=r_associated | relid=0 | w=32
  2341. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also oca1a (203100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also oca1a (203100) | rel=r_associated | relid=0 | w=32
  2342. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also optic atrophy 1 (165500), an allelic disorder without deafness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | rel=r_associated | relid=0 | w=32
  2343. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | rel=r_associated | relid=0 | w=32
  2344. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also peeling skin syndrome, acral type (609796)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also peeling skin syndrome, acral type (609796) | rel=r_associated | relid=0 | w=32
  2345. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also severe, early-onset form (300717)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also severe, early-onset form (300717) | rel=r_associated | relid=0 | w=32
  2346. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also the autosomal recessive form (243000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also the autosomal recessive form (243000) | rel=r_associated | relid=0 | w=32
  2347. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:see also x-linked leigh syndrome (312170)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also x-linked leigh syndrome (312170) | rel=r_associated | relid=0 | w=32
  2348. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:seizures are followed by drowsiness in most cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are followed by drowsiness in most cases | rel=r_associated | relid=0 | w=32
  2349. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:sensory loss is rapidly progressive and severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sensory loss is rapidly progressive and severe | rel=r_associated | relid=0 | w=32
  2350. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2351. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2352. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2353. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2354. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2355. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2356. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  2357. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2358. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2359. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2360. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2361. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2362. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32
  2363. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:severity of phenotype is not related to residual enzyme activity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severity of phenotype is not related to residual enzyme activity | rel=r_associated | relid=0 | w=32
  2364. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:short stepped shuffling gait
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:short stepped shuffling gait | rel=r_associated | relid=0 | w=32
  2365. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:single umbilical artery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:single umbilical artery | rel=r_associated | relid=0 | w=32
  2366. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2367. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:skin wrinkling improves with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin wrinkling improves with age | rel=r_associated | relid=0 | w=32
  2368. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:sleep disturbance or sleep apnea (obstructive, central, or mixed)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | rel=r_associated | relid=0 | w=32
  2369. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:sleepwalking triggered by alcohol, sleep deprivation, stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sleepwalking triggered by alcohol, sleep deprivation, stress | rel=r_associated | relid=0 | w=32
  2370. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:slow or nonprogressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slow or nonprogressive | rel=r_associated | relid=0 | w=32
  2371. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | rel=r_associated | relid=0 | w=32
  2372. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | rel=r_associated | relid=0 | w=32
  2373. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2374. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some patients are asymptomatic and detected only by newborn screening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients are asymptomatic and detected only by newborn screening | rel=r_associated | relid=0 | w=32
  2375. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some patients experience respiratory infections in association with episodes of jaundice in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | rel=r_associated | relid=0 | w=32
  2376. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some patients have a secreted but biologically inactive mutant leptin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have a secreted but biologically inactive mutant leptin | rel=r_associated | relid=0 | w=32
  2377. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some patients may present with myopathic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may present with myopathic features | rel=r_associated | relid=0 | w=32
  2378. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some patients show normal development until onset of disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show normal development until onset of disorder | rel=r_associated | relid=0 | w=32
  2379. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:some patients show onset in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show onset in childhood | rel=r_associated | relid=0 | w=32
  2380. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:spontaneous tumor regression may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous tumor regression may occur | rel=r_associated | relid=0 | w=32
  2381. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:sporadic cases often single lesions versus multiple lesions in familial cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sporadic cases often single lesions versus multiple lesions in familial cases | rel=r_associated | relid=0 | w=32
  2382. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:stillborn or death in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stillborn or death in infancy | rel=r_associated | relid=0 | w=32
  2383. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:sudden cardiac death in some families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden cardiac death in some families | rel=r_associated | relid=0 | w=32
  2384. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350))
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | rel=r_associated | relid=0 | w=32
  2385. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:survivors may develop renal insufficiency and hepatic dysfunction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survivors may develop renal insufficiency and hepatic dysfunction | rel=r_associated | relid=0 | w=32
  2386. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptomatic female carriers have been described in 1 japanese family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptomatic female carriers have been described in 1 japanese family | rel=r_associated | relid=0 | w=32
  2387. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptomatic if > 200 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptomatic if > 200 repeats | rel=r_associated | relid=0 | w=32
  2388. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms are not relieved by alcohol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms are not relieved by alcohol | rel=r_associated | relid=0 | w=32
  2389. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms improve during the summer
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms improve during the summer | rel=r_associated | relid=0 | w=32
  2390. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms induced by strenuous exercise
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms induced by strenuous exercise | rel=r_associated | relid=0 | w=32
  2391. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | rel=r_associated | relid=0 | w=32
  2392. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | rel=r_associated | relid=0 | w=32
  2393. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | rel=r_associated | relid=0 | w=32
  2394. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms relieved by serotonin antagonist (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms relieved by serotonin antagonist (in some patients) | rel=r_associated | relid=0 | w=32
  2395. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms remain focal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms remain focal | rel=r_associated | relid=0 | w=32
  2396. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:symptoms usually last 30-60 minutes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms usually last 30-60 minutes | rel=r_associated | relid=0 | w=32
  2397. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:telangiectases persist in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:telangiectases persist in adulthood | rel=r_associated | relid=0 | w=32
  2398. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:the frequency is estimated at 1/20,000 to 1/50,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the frequency is estimated at 1/20,000 to 1/50,000 births | rel=r_associated | relid=0 | w=32
  2399. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> 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:two unrelated families have been reported (last curated february 2016) | 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=32
  2400. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2401. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:this patient died at age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:this patient died at age 2 years | rel=r_associated | relid=0 | w=32
  2402. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:three affected sibs have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three affected sibs have been reported | rel=r_associated | relid=0 | w=32
  2403. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:three patients have been reported (as of august 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=32
  2404. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2405. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:three unrelated patients have been reported (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=32
  2406. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=32
  2407. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:treatment with enzyme replacement therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with enzyme replacement therapy | rel=r_associated | relid=0 | w=32
  2408. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:treatment with riboflavin has been helpful in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with riboflavin has been helpful in some patients | rel=r_associated | relid=0 | w=32
  2409. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:treatment with tnf inhibitors may be beneficial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with tnf inhibitors may be beneficial | rel=r_associated | relid=0 | w=32
  2410. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | rel=r_associated | relid=0 | w=32
  2411. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2412. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two adult sibs have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two adult sibs have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  2413. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two chinese sisters and one chinese woman have been described (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | rel=r_associated | relid=0 | w=32
  2414. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two families have been reported (as of may 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=32
  2415. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two loci described - eec1 (129900) and eec3 (604292)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two loci described - eec1 (129900) and eec3 (604292) | rel=r_associated | relid=0 | w=32
  2416. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two patients have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients have been reported | rel=r_associated | relid=0 | w=32
  2417. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=32
  2418. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two sibs have been reported (last curated july 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=32
  2419. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated june 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=32
  2420. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (as of june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=32
  2421. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (as of may 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (as of may 2011) | rel=r_associated | relid=0 | w=32
  2422. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32
  2423. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:type 2 porencephaly is usually symmetrical and results from developmental malformation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | rel=r_associated | relid=0 | w=32
  2424. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:type 3 - brandywine isolate opalescent dentin (125500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 3 - brandywine isolate opalescent dentin (125500) | rel=r_associated | relid=0 | w=32
  2425. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:type ii is adult-onset (kanzaki disease, 609242)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type ii is adult-onset (kanzaki disease, 609242) | rel=r_associated | relid=0 | w=32
  2426. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:type iiia has both liver and muscle involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type iiia has both liver and muscle involvement | rel=r_associated | relid=0 | w=32
  2427. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:type iiib liver involvement only (15% of all cases)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type iiib liver involvement only (15% of all cases) | rel=r_associated | relid=0 | w=32
  2428. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:upper limb involvement occur later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:upper limb involvement occur later | rel=r_associated | relid=0 | w=32
  2429. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=32
  2430. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:usually progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually progressive | rel=r_associated | relid=0 | w=32
  2431. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:usually sporadic disorder resulting from de novo 22q11.2 deletion
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | rel=r_associated | relid=0 | w=32
  2432. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range childhood to late adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=32
  2433. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range infancy to young adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range infancy to young adult) | rel=r_associated | relid=0 | w=32
  2434. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age at onset of arrhythmia (range 12 to 59 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset of arrhythmia (range 12 to 59 years) | rel=r_associated | relid=0 | w=32
  2435. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age at onset of symptoms (from childhood to the sixth decade of life)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | rel=r_associated | relid=0 | w=32
  2436. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age at onset, ranging from childhood to late adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, ranging from childhood to late adulthood | rel=r_associated | relid=0 | w=32
  2437. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age at onset, ranging from prelingual at birth to fifth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, ranging from prelingual at birth to fifth decade | rel=r_associated | relid=0 | w=32
  2438. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age of onset (childhood to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (childhood to adult) | rel=r_associated | relid=0 | w=32
  2439. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age of onset (first to third decades)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (first to third decades) | rel=r_associated | relid=0 | w=32
  2440. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age of onset (range first to third decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (range first to third decade) | rel=r_associated | relid=0 | w=32
  2441. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age of onset of parkinsonism (first decade to adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset of parkinsonism (first decade to adulthood) | rel=r_associated | relid=0 | w=32
  2442. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable age of onset, from early childhood to seventh decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset, from early childhood to seventh decade of life | rel=r_associated | relid=0 | w=32
  2443. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable cataract phenotypes within a family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable cataract phenotypes within a family | rel=r_associated | relid=0 | w=32
  2444. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable clinical presentation that may change with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable clinical presentation that may change with age | rel=r_associated | relid=0 | w=32
  2445. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable expression and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expression and severity | rel=r_associated | relid=0 | w=32
  2446. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable expressivity in families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expressivity in families | rel=r_associated | relid=0 | w=32
  2447. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable features | rel=r_associated | relid=0 | w=32
  2448. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable frequency and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable frequency and severity | rel=r_associated | relid=0 | w=32
  2449. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable number of nails involved
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable number of nails involved | rel=r_associated | relid=0 | w=32
  2450. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable response to steroid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable response to steroid treatment | rel=r_associated | relid=0 | w=32
  2451. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable severity and progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity and progression | rel=r_associated | relid=0 | w=32
  2452. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable severity of clinical and radiologic manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=32
  2453. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | rel=r_associated | relid=0 | w=32
  2454. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:variable severity, ranging from central severe to peripheral to transient
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity, ranging from central severe to peripheral to transient | rel=r_associated | relid=0 | w=32
  2455. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:venous malformations previously referred to as angiomas or hemangiomas
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:venous malformations previously referred to as angiomas or hemangiomas | rel=r_associated | relid=0 | w=32
  2456. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | rel=r_associated | relid=0 | w=32
  2457. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:visual field and color defects invariably present only in patients with advanced loss of vision
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visual field and color defects invariably present only in patients with advanced loss of vision | rel=r_associated | relid=0 | w=32
  2458. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:wide phenotypic variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide phenotypic variability | rel=r_associated | relid=0 | w=32
  2459. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:women affected more than men (3:2)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:women affected more than men (3:2) | rel=r_associated | relid=0 | w=32
  2460. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:xy karyotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:xy karyotype | rel=r_associated | relid=0 | w=32
  2461. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 32 / 0.744 -> en:zinc deficiency in breastfed offspring resolves after weaning
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:zinc deficiency in breastfed offspring resolves after weaning | rel=r_associated | relid=0 | w=32
  2462. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:1 in 17,000 in china
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:1 in 17,000 in china | rel=r_associated | relid=0 | w=31
  2463. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:20-40% patients are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:20-40% patients are asymptomatic | rel=r_associated | relid=0 | w=31
  2464. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:40% patients have associated abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:40% patients have associated abnormalities | rel=r_associated | relid=0 | w=31
  2465. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:a pair of monozygotic twins have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a pair of monozygotic twins have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31
  2466. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | rel=r_associated | relid=0 | w=31
  2467. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:acquired sporadic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acquired sporadic disorder | rel=r_associated | relid=0 | w=31
  2468. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adrenal insufficiency usually develops later (first decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=31
  2469. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adult form is asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult form is asymptomatic | rel=r_associated | relid=0 | w=31
  2470. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adult onset (18 to 60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (18 to 60 years) | rel=r_associated | relid=0 | w=31
  2471. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adult onset (27 to 48 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (27 to 48 years) | rel=r_associated | relid=0 | w=31
  2472. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adult onset (mean 30 years, range 10-65 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (mean 30 years, range 10-65 years) | rel=r_associated | relid=0 | w=31
  2473. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adult onset form usually presents with psychiatric manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset form usually presents with psychiatric manifestations | rel=r_associated | relid=0 | w=31
  2474. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adult onset has been reported (age 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset has been reported (age 50 years) | rel=r_associated | relid=0 | w=31
  2475. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:adult onset of gait abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset of gait abnormalities | rel=r_associated | relid=0 | w=31
  2476. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:affected fetuses frequently undergo spontaneous abortion
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected fetuses frequently undergo spontaneous abortion | rel=r_associated | relid=0 | w=31
  2477. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:affected individuals have a relatively mild ichthyosis phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=31
  2478. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:affected infants appear normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected infants appear normal | rel=r_associated | relid=0 | w=31
  2479. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:affected males are all result of new mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males are all result of new mutation | rel=r_associated | relid=0 | w=31
  2480. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:affected males have onset of poor vision before the age of 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males have onset of poor vision before the age of 2 years | rel=r_associated | relid=0 | w=31
  2481. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:affects up to 10% of the population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affects up to 10% of the population | rel=r_associated | relid=0 | w=31
  2482. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age at onset 15 to 33 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset 15 to 33 years | rel=r_associated | relid=0 | w=31
  2483. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age at onset can range from infancy to childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset can range from infancy to childhood | rel=r_associated | relid=0 | w=31
  2484. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age at onset ranges from 16 years to 65 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset ranges from 16 years to 65 years | rel=r_associated | relid=0 | w=31
  2485. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age at onset ranges from neonatal to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset ranges from neonatal to adulthood | rel=r_associated | relid=0 | w=31
  2486. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age of onset ranges from 1 to 47 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=31
  2487. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age of onset varies from 5-32 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset varies from 5-32 years of age | rel=r_associated | relid=0 | w=31
  2488. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age of onset within the first years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset within the first years of life | rel=r_associated | relid=0 | w=31
  2489. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age on onset - adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age on onset - adolescence | rel=r_associated | relid=0 | w=31
  2490. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:age-related clinical course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age-related clinical course | rel=r_associated | relid=0 | w=31
  2491. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:all cases from a remote village, sabinas, in northern mexico
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases from a remote village, sabinas, in northern mexico | rel=r_associated | relid=0 | w=31
  2492. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:all cases have been stillborn or immediate neonatal death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases have been stillborn or immediate neonatal death | rel=r_associated | relid=0 | w=31
  2493. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:all patients have severe hearing loss 10 to 15 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all patients have severe hearing loss 10 to 15 years after onset | rel=r_associated | relid=0 | w=31
  2494. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:all reported cases have occurred sporadically
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all reported cases have occurred sporadically | rel=r_associated | relid=0 | w=31
  2495. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:all reported cases result from de novo mutation (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all reported cases result from de novo mutation (last curated july 2014) | rel=r_associated | relid=0 | w=31
  2496. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder is brugada syndrome (601144)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder is brugada syndrome (601144) | rel=r_associated | relid=0 | w=31
  2497. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=31
  2498. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to benign hereditary chorea (118700), which is less severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=31
  2499. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to brachydactyly type b (113000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to brachydactyly type b (113000) | rel=r_associated | relid=0 | w=31
  2500. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | rel=r_associated | relid=0 | w=31
  2501. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | rel=r_associated | relid=0 | w=31
  2502. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to long qt syndrome-1 (lqt1, 192500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | rel=r_associated | relid=0 | w=31
  2503. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | rel=r_associated | relid=0 | w=31
  2504. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to the ivic syndrome (147750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to the ivic syndrome (147750) | rel=r_associated | relid=0 | w=31
  2505. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2506. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic to cartilage-hair hypoplasia (250250)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to cartilage-hair hypoplasia (250250) | rel=r_associated | relid=0 | w=31
  2507. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic to hand osteoarthritis (607850)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=31
  2508. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2509. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  2510. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic to multiple pterygium syndrome, lethal type (253290)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to multiple pterygium syndrome, lethal type (253290) | rel=r_associated | relid=0 | w=31
  2511. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic to pachyonychia congenita jackson-lawler type (167210)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to pachyonychia congenita jackson-lawler type (167210) | rel=r_associated | relid=0 | w=31
  2512. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> 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:two unrelated families have been reported (last curated february 2016) | 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=31
  2513. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=31
  2514. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:allelic to tyrosinemia, type iii (276720)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to tyrosinemia, type iii (276720) | rel=r_associated | relid=0 | w=31
  2515. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:alopecia may spontaneously regress, become chronic, or spread diffusely
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:alopecia may spontaneously regress, become chronic, or spread diffusely | rel=r_associated | relid=0 | w=31
  2516. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:anemia is responsive to corticosteroid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=31
  2517. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | rel=r_associated | relid=0 | w=31
  2518. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=31
  2519. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:apparent at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:apparent at birth | rel=r_associated | relid=0 | w=31
  2520. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:approximately 10% of als cases are familial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 10% of als cases are familial | rel=r_associated | relid=0 | w=31
  2521. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:approximately 25% have a severe course and die of respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 25% have a severe course and die of respiratory failure | rel=r_associated | relid=0 | w=31
  2522. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:approximately half of patients need ambulatory support after the fifth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately half of patients need ambulatory support after the fifth decade | rel=r_associated | relid=0 | w=31
  2523. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:associated with fragile x syndrome (309550)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with fragile x syndrome (309550) | rel=r_associated | relid=0 | w=31
  2524. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:associated with increased frequency of autoimmune diseases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=31
  2525. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583).
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2526. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:associated with tuberous sclerosis (191100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with tuberous sclerosis (191100) | rel=r_associated | relid=0 | w=31
  2527. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:association of cardiac events with exercise
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:association of cardiac events with exercise | rel=r_associated | relid=0 | w=31
  2528. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:asymptomatic younger patients show characteristic basal ganglia calcifications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:asymptomatic younger patients show characteristic basal ganglia calcifications | rel=r_associated | relid=0 | w=31
  2529. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  2530. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive disorder tends to be more severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=31
  2531. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | rel=r_associated | relid=0 | w=31
  2532. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:average age at onset 16.6 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset 16.6 years | rel=r_associated | relid=0 | w=31
  2533. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:average age at onset 38 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset 38 years | rel=r_associated | relid=0 | w=31
  2534. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:axial skeleton most commonly affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:axial skeleton most commonly affected | rel=r_associated | relid=0 | w=31
  2535. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | rel=r_associated | relid=0 | w=31
  2536. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:based on one finnish family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one finnish family | rel=r_associated | relid=0 | w=31
  2537. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:based on one italian family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one italian family (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2538. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:based on report of 1 family (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 family (last curated january 2014) | rel=r_associated | relid=0 | w=31
  2539. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:based on the report of 1 japanese family (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on the report of 1 japanese family (last curated july 2014) | rel=r_associated | relid=0 | w=31
  2540. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | rel=r_associated | relid=0 | w=31
  2541. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:blistering may worsen during the summer
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blistering may worsen during the summer | rel=r_associated | relid=0 | w=31
  2542. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:both autosomal dominant and recessive inheritance can occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both autosomal dominant and recessive inheritance can occur | rel=r_associated | relid=0 | w=31
  2543. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:can be slowly or rapidly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can be slowly or rapidly progressive | rel=r_associated | relid=0 | w=31
  2544. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | rel=r_associated | relid=0 | w=31
  2545. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:carrier females are normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females are normal | rel=r_associated | relid=0 | w=31
  2546. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:carrier frequency 1:1,000 in french-canadians in quebec
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier frequency 1:1,000 in french-canadians in quebec | rel=r_associated | relid=0 | w=31
  2547. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | rel=r_associated | relid=0 | w=31
  2548. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2549. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:characteristic face and body by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:characteristic face and body by age 2 years | rel=r_associated | relid=0 | w=31
  2550. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:characteristic facial features become more apparent with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:characteristic facial features become more apparent with age | rel=r_associated | relid=0 | w=31
  2551. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:childhood onset may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood onset may occur | rel=r_associated | relid=0 | w=31
  2552. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:childhood or adolescent onset, protracted, with myopathy and neuropathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | rel=r_associated | relid=0 | w=31
  2553. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | rel=r_associated | relid=0 | w=31
  2554. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:chronic, relapsing condition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chronic, relapsing condition | rel=r_associated | relid=0 | w=31
  2555. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:classic severe form shows onset at 2 to 3 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=31
  2556. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:clinical improvement after 2 to 3 weeks of supportive care
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical improvement after 2 to 3 weeks of supportive care | rel=r_associated | relid=0 | w=31
  2557. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2558. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:clinically 'silent' nystagmus evident on eye movement recording in carrier females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | rel=r_associated | relid=0 | w=31
  2559. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:cold temeratures exacerbate symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cold temeratures exacerbate symptoms | rel=r_associated | relid=0 | w=31
  2560. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:colorectal cancer develops by fourth decade in untreated patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:colorectal cancer develops by fourth decade in untreated patients | rel=r_associated | relid=0 | w=31
  2561. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:complete recovery upon treatment of hyperthyroidism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complete recovery upon treatment of hyperthyroidism | rel=r_associated | relid=0 | w=31
  2562. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:complicated and pure forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complicated and pure forms | rel=r_associated | relid=0 | w=31
  2563. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:compound heterozygosity common
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=31
  2564. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:congenital linear skin defects may disappear within a few months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital linear skin defects may disappear within a few months of life | rel=r_associated | relid=0 | w=31
  2565. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:contiguous gene deletion syndrome at chromosome 6p
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contiguous gene deletion syndrome at chromosome 6p | rel=r_associated | relid=0 | w=31
  2566. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2567. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:d-hus is usually familial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:d-hus is usually familial | rel=r_associated | relid=0 | w=31
  2568. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2569. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death by age 2 years | rel=r_associated | relid=0 | w=31
  2570. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death from stroke if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death from stroke if untreated | rel=r_associated | relid=0 | w=31
  2571. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death in childhood often results from respiratory insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood often results from respiratory insufficiency | rel=r_associated | relid=0 | w=31
  2572. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death in early childhood may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in early childhood may occur | rel=r_associated | relid=0 | w=31
  2573. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death in infancy in 2 patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=31
  2574. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death in infancy without bone marrow transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy without bone marrow transplantation | rel=r_associated | relid=0 | w=31
  2575. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death occurs in second or third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death occurs in second or third decade | rel=r_associated | relid=0 | w=31
  2576. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death secondary to respiratory infection or failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death secondary to respiratory infection or failure | rel=r_associated | relid=0 | w=31
  2577. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death secondary to respiratory infection or failure before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=31
  2578. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death usually occurs by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs by age 2 years | rel=r_associated | relid=0 | w=31
  2579. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:death within 6 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within 6 years after onset | rel=r_associated | relid=0 | w=31
  2580. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:decrease in seizure frequency in middle age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:decrease in seizure frequency in middle age | rel=r_associated | relid=0 | w=31
  2581. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:described in 3 unrelated infants (last curated january 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in 3 unrelated infants (last curated january 2013) | rel=r_associated | relid=0 | w=31
  2582. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:diarrhea worsens in parallel with increases in severity of skin disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=31
  2583. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | rel=r_associated | relid=0 | w=31
  2584. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | rel=r_associated | relid=0 | w=31
  2585. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:disease course depends on age at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease course depends on age at onset | rel=r_associated | relid=0 | w=31
  2586. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:disease is nonprogressive in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease is nonprogressive in most patients | rel=r_associated | relid=0 | w=31
  2587. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:distinct from pili annulati (180600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct from pili annulati (180600) | rel=r_associated | relid=0 | w=31
  2588. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=31
  2589. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:dramatic improvement with proper treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dramatic improvement with proper treatment | rel=r_associated | relid=0 | w=31
  2590. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:dysmorphic features are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic features are variable | rel=r_associated | relid=0 | w=31
  2591. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:early death may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death may occur | rel=r_associated | relid=0 | w=31
  2592. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:early onset (9-48 years, but reported up to 68 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=31
  2593. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:early onset has rarely been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset has rarely been reported | rel=r_associated | relid=0 | w=31
  2594. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:early onset, between 35-60 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset, between 35-60 years | rel=r_associated | relid=0 | w=31
  2595. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:elevated afp can be seen in other disorders
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:elevated afp can be seen in other disorders | rel=r_associated | relid=0 | w=31
  2596. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:end-stage renal failure may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=31
  2597. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:endocrine abnormalities confined to kidney
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:endocrine abnormalities confined to kidney | rel=r_associated | relid=0 | w=31
  2598. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:enterocolitis tends to remit with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:enterocolitis tends to remit with age | rel=r_associated | relid=0 | w=31
  2599. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:episodes are triggered by cold exposure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes are triggered by cold exposure | rel=r_associated | relid=0 | w=31
  2600. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:episodes occur 30 minutes to 3 hours after exposure to cold
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=31
  2601. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:episodic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodic | rel=r_associated | relid=0 | w=31
  2602. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:estimated frequency of 1 in 40,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated frequency of 1 in 40,000 live births | rel=r_associated | relid=0 | w=31
  2603. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:exacerbation of symptoms during or after pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exacerbation of symptoms during or after pregnancy | rel=r_associated | relid=0 | w=31
  2604. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:exon 7 of smn1 is absent in 95.6% of sma1 patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | rel=r_associated | relid=0 | w=31
  2605. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:extreme phenotypic variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:extreme phenotypic variability | rel=r_associated | relid=0 | w=31
  2606. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:familial cases are rare and show incomplete penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:familial cases are rare and show incomplete penetrance | rel=r_associated | relid=0 | w=31
  2607. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2608. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:fasting status:prthr:pt:^patient:ord:reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fasting status:prthr:pt:^patient:ord:reported | rel=r_associated | relid=0 | w=31
  2609. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:favorable response to bh4 therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to bh4 therapy | rel=r_associated | relid=0 | w=31
  2610. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | rel=r_associated | relid=0 | w=31
  2611. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:features intermediate between demyelinating cmt and axonal cmt
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features intermediate between demyelinating cmt and axonal cmt | rel=r_associated | relid=0 | w=31
  2612. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:features usually appear during adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features usually appear during adulthood | rel=r_associated | relid=0 | w=31
  2613. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:female carriers may be mildly affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=31
  2614. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=31
  2615. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:female carriers may have hearing loss and/or subclinical peripheral neuropathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | rel=r_associated | relid=0 | w=31
  2616. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:female carriers may have mild hearing impairment and/or mild signs of choroideremia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | rel=r_associated | relid=0 | w=31
  2617. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:females demonstrate lyonization with corresponding phenotypic variation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females demonstrate lyonization with corresponding phenotypic variation | rel=r_associated | relid=0 | w=31
  2618. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:fifty-percent of individuals responsive to pyridoxine (vitamin b6)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | rel=r_associated | relid=0 | w=31
  2619. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:first name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:first name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=31
  2620. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=31
  2621. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:five patients have been reported (as of april 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five patients have been reported (as of april 2011) | rel=r_associated | relid=0 | w=31
  2622. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:five unrelated patients have been reported (as of december 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five unrelated patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=31
  2623. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:food related behavioral problems include excessive appetite and obsession with eating
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:food related behavioral problems include excessive appetite and obsession with eating | rel=r_associated | relid=0 | w=31
  2624. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | rel=r_associated | relid=0 | w=31
  2625. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:four unrelated patients have been reported (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=31
  2626. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:four unrelated patients reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients reported (last curated august 2015) | rel=r_associated | relid=0 | w=31
  2627. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:frequently fatal within the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequently fatal within the first year of life | rel=r_associated | relid=0 | w=31
  2628. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 125800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 125800) | rel=r_associated | relid=0 | w=31
  2629. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 213300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 213300) | rel=r_associated | relid=0 | w=31
  2630. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 259700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 259700) | rel=r_associated | relid=0 | w=31
  2631. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 266900 for summary)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 266900 for summary) | rel=r_associated | relid=0 | w=31
  2632. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 613254)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 613254) | rel=r_associated | relid=0 | w=31
  2633. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cmt2a 118210)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmt2a 118210) | rel=r_associated | relid=0 | w=31
  2634. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cmt4b1, 601382)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmt4b1, 601382) | rel=r_associated | relid=0 | w=31
  2635. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see etl2, 608096)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see etl2, 608096) | rel=r_associated | relid=0 | w=31
  2636. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | rel=r_associated | relid=0 | w=31
  2637. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | rel=r_associated | relid=0 | w=31
  2638. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (x-linked form 305100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (x-linked form 305100) | rel=r_associated | relid=0 | w=31
  2639. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | rel=r_associated | relid=0 | w=31
  2640. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see apmr1 (203650)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see apmr1 (203650) | rel=r_associated | relid=0 | w=31
  2641. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see ekd1 (128200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see ekd1 (128200) | rel=r_associated | relid=0 | w=31
  2642. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see mgr1 (157300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see mgr1 (157300) | rel=r_associated | relid=0 | w=31
  2643. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see ppnad1 (610489)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see ppnad1 (610489) | rel=r_associated | relid=0 | w=31
  2644. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, some patients not linked to fgfr3
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, some patients not linked to fgfr3 | rel=r_associated | relid=0 | w=31
  2645. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:good response to l-dopa initially
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to l-dopa initially | rel=r_associated | relid=0 | w=31
  2646. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:good response to phosphate treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to phosphate treatment | rel=r_associated | relid=0 | w=31
  2647. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:group b patients die by 3 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:group b patients die by 3 months of age | rel=r_associated | relid=0 | w=31
  2648. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:hair regrowth may occur later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=31
  2649. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:hands clenched at birth but loosen in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=31
  2650. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:hearing loss is pre- or perilingual in onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss is pre- or perilingual in onset | rel=r_associated | relid=0 | w=31
  2651. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:hearing loss occurs later if at all
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=31
  2652. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | rel=r_associated | relid=0 | w=31
  2653. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:high early mortality rate if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high early mortality rate if untreated | rel=r_associated | relid=0 | w=31
  2654. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:high incidence of e. coli sepsis in untreated neonates
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high incidence of e. coli sepsis in untreated neonates | rel=r_associated | relid=0 | w=31
  2655. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:high mortality in infancy and early childhood (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high mortality in infancy and early childhood (in some patients) | rel=r_associated | relid=0 | w=31
  2656. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:highly variable dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable dysmorphic features | rel=r_associated | relid=0 | w=31
  2657. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:highly variable organ involvement and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=31
  2658. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:highly variable phenotype, ranging from asymptomatic to severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=31
  2659. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:hypotonia, infantile, with psychomotor retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypotonia, infantile, with psychomotor retardation | rel=r_associated | relid=0 | w=31
  2660. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:impaired healing
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:impaired healing | rel=r_associated | relid=0 | w=31
  2661. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:in some patients, qtc interval is prolonged only during exercise testing
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in some patients, qtc interval is prolonged only during exercise testing | rel=r_associated | relid=0 | w=31
  2662. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:in the absence of hydrops, death occurs within 3 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=31
  2663. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incidence approximately 2-3/10,000 newborns
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence approximately 2-3/10,000 newborns | rel=r_associated | relid=0 | w=31
  2664. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 1.5 million births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=31
  2665. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 100,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 100,000 | rel=r_associated | relid=0 | w=31
  2666. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 39,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=31
  2667. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incidence of 1% in yarmouth county, nova scotia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=31
  2668. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incidence of 12.2 per 100,000 in finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 12.2 per 100,000 in finland | rel=r_associated | relid=0 | w=31
  2669. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incidence of all forms of cjd is 0.5 to 1.5 per million per year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | rel=r_associated | relid=0 | w=31
  2670. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incomplete penetrance in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance in females | rel=r_associated | relid=0 | w=31
  2671. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:incomplete, age-associated penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete, age-associated penetrance | rel=r_associated | relid=0 | w=31
  2672. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:increased abortuses of homozygous or compound heterozygous fetuses
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased abortuses of homozygous or compound heterozygous fetuses | rel=r_associated | relid=0 | w=31
  2673. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:increased frequency in the faroe islands (carrier 1 in 25)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in the faroe islands (carrier 1 in 25) | rel=r_associated | relid=0 | w=31
  2674. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:increased risk of developing early-onset aggressive cancers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of developing early-onset aggressive cancers | rel=r_associated | relid=0 | w=31
  2675. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:increased sensitivity to heat
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased sensitivity to heat | rel=r_associated | relid=0 | w=31
  2676. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:inflammatory arthritis may develop in 30% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=31
  2677. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:initial hearing loss is mild progressing to severe or profound by the seventh decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=31
  2678. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:intermittent pyrexia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intermittent pyrexia | rel=r_associated | relid=0 | w=31
  2679. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:itch, pain, and body malodor often
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=31
  2680. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:joint symptoms begin in third or fourth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=31
  2681. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:juvenile absence epilepsy (jae, 607631)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile absence epilepsy (jae, 607631) | rel=r_associated | relid=0 | w=31
  2682. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:juvenile and adult forms are isolated glycerol kinase deficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile and adult forms are isolated glycerol kinase deficiency | rel=r_associated | relid=0 | w=31
  2683. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:juvenile myoclonic epilepsy (jme, 606904)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile myoclonic epilepsy (jme, 606904) | rel=r_associated | relid=0 | w=31
  2684. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:l-dopa-induced dyskinesias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:l-dopa-induced dyskinesias | rel=r_associated | relid=0 | w=31
  2685. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:late-adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late-adult onset | rel=r_associated | relid=0 | w=31
  2686. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:later onset can also occur (up to age 17 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=31
  2687. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:later onset may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset may occur | rel=r_associated | relid=0 | w=31
  2688. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:later onset may occur (1 to 11 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset may occur (1 to 11 years) | rel=r_associated | relid=0 | w=31
  2689. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:lesions are present at birth or become apparent in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions are present at birth or become apparent in infancy | rel=r_associated | relid=0 | w=31
  2690. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:less than 50% penetrance in some families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:less than 50% penetrance in some families | rel=r_associated | relid=0 | w=31
  2691. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:lethal in utero or in the perinatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lethal in utero or in the perinatal period | rel=r_associated | relid=0 | w=31
  2692. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:lifetime risk of breast cancer in mutation carriers is 60 to 85%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=31
  2693. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=31
  2694. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:limited clinical information provided
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limited clinical information provided | rel=r_associated | relid=0 | w=31
  2695. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:lipodystrophic appearance may be mild or not present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lipodystrophic appearance may be mild or not present | rel=r_associated | relid=0 | w=31
  2696. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:liver enzymes decrease with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver enzymes decrease with age | rel=r_associated | relid=0 | w=31
  2697. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:lower limb involvement precedes upper limb involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lower limb involvement precedes upper limb involvement | rel=r_associated | relid=0 | w=31
  2698. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:majority are sporadic cases, affected sibs have been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority are sporadic cases, affected sibs have been described | rel=r_associated | relid=0 | w=31
  2699. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:majority are stillborn or die in early neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=31
  2700. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:majority of affected individuals are female (85%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of affected individuals are female (85%) | rel=r_associated | relid=0 | w=31
  2701. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:majority of cases are male
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=31
  2702. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:majority of cases are secondary to de novo mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases are secondary to de novo mutation | rel=r_associated | relid=0 | w=31
  2703. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:majority of cases are sporadic, some autosomal dominant families have been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases are sporadic, some autosomal dominant families have been described | rel=r_associated | relid=0 | w=31
  2704. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:majority of cases sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=31
  2705. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:male-to-female ratio of 3:2 in childhood cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male-to-female ratio of 3:2 in childhood cases | rel=r_associated | relid=0 | w=31
  2706. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:males are more commonly affected than females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males are more commonly affected than females | rel=r_associated | relid=0 | w=31
  2707. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:males are most severely affected, but females can also be affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=31
  2708. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | rel=r_associated | relid=0 | w=31
  2709. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:many features are present only in an untreated patient
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many features are present only in an untreated patient | rel=r_associated | relid=0 | w=31
  2710. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:many patients die by 1-3 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients die by 1-3 years of age | rel=r_associated | relid=0 | w=31
  2711. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:marked phenotypic variability, even within an individual
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked phenotypic variability, even within an individual | rel=r_associated | relid=0 | w=31
  2712. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:maternal anticipation bias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=31
  2713. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:may be exacerbated by febrile illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be exacerbated by febrile illness | rel=r_associated | relid=0 | w=31
  2714. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:may be induced by fever or hot bath
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be induced by fever or hot bath | rel=r_associated | relid=0 | w=31
  2715. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:may be lethal in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be lethal in infancy | rel=r_associated | relid=0 | w=31
  2716. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:may fade with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may fade with age | rel=r_associated | relid=0 | w=31
  2717. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:may occur in adults (also in pregnancy)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=31
  2718. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age at onset 32 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=31
  2719. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age at onset 33 years (range 20-60)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=31
  2720. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age at onset 41 years (range 18 to 61)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 41 years (range 18 to 61) | rel=r_associated | relid=0 | w=31
  2721. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age at onset 46.5 years (range 19-64)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=31
  2722. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age at onset of bone fractures, 24 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=31
  2723. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age at resolution of symptoms 10 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at resolution of symptoms 10 years | rel=r_associated | relid=0 | w=31
  2724. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age of diagnosis is 40 years (range 11 to 79 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of diagnosis is 40 years (range 11 to 79 years) | rel=r_associated | relid=0 | w=31
  2725. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age of diagnosis of uterine leiomyomas is 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of diagnosis of uterine leiomyomas is 30 years | rel=r_associated | relid=0 | w=31
  2726. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age of onset 22 years (range 5-54)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=31
  2727. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age of onset 30 years (range 25-42)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=31
  2728. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age of onset 50 to 52 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=31
  2729. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mean age of onset, 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=31
  2730. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:median age at diagnosis, 59 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=31
  2731. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:median age of onset of pigmentation - 8 years (range 1-15 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=31
  2732. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:median onset of neurologic symptoms is 13 years (range 5 to 28)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=31
  2733. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:middle age onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:middle age onset | rel=r_associated | relid=0 | w=31
  2734. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mild disease course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild disease course | rel=r_associated | relid=0 | w=31
  2735. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mild disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild disorder | rel=r_associated | relid=0 | w=31
  2736. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mild involvement of face and arms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild involvement of face and arms | rel=r_associated | relid=0 | w=31
  2737. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | rel=r_associated | relid=0 | w=31
  2738. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:milder form with onset in childhood, absence seizures, and learning difficulties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=31
  2739. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:more commonly observed in women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more commonly observed in women | rel=r_associated | relid=0 | w=31
  2740. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:more prevalent in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more prevalent in females | rel=r_associated | relid=0 | w=31
  2741. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:more than half of patients develop retinal detachments and/or retinoschisis later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | rel=r_associated | relid=0 | w=31
  2742. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mortality approximately 20% in first 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mortality approximately 20% in first 2 years | rel=r_associated | relid=0 | w=31
  2743. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most affected males die of respiratory failure within the first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most affected males die of respiratory failure within the first months of life | rel=r_associated | relid=0 | w=31
  2744. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most cases are responsive to steroids
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases are responsive to steroids | rel=r_associated | relid=0 | w=31
  2745. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most cases occur de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases occur de novo | rel=r_associated | relid=0 | w=31
  2746. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most children become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most children become wheelchair-bound | rel=r_associated | relid=0 | w=31
  2747. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most common mutation is leu276ile (606596.0004)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common mutation is leu276ile (606596.0004) | rel=r_associated | relid=0 | w=31
  2748. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most individuals are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most individuals are asymptomatic | rel=r_associated | relid=0 | w=31
  2749. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are asymptomatic | rel=r_associated | relid=0 | w=31
  2750. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients are clinically asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are clinically asymptomatic | rel=r_associated | relid=0 | w=31
  2751. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients are stillborn or die in immediate neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are stillborn or die in immediate neonatal period | rel=r_associated | relid=0 | w=31
  2752. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients become wheelchair-bound in later childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become wheelchair-bound in later childhood | rel=r_associated | relid=0 | w=31
  2753. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients become wheelchair-bound in the second to fourth decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become wheelchair-bound in the second to fourth decades | rel=r_associated | relid=0 | w=31
  2754. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients die from heart failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die from heart failure | rel=r_associated | relid=0 | w=31
  2755. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients die within the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die within the first year of life | rel=r_associated | relid=0 | w=31
  2756. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients need assistance walking or are wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients need assistance walking or are wheelchair-bound | rel=r_associated | relid=0 | w=31
  2757. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most patients need hip replacement by their mid-thirties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients need hip replacement by their mid-thirties | rel=r_associated | relid=0 | w=31
  2758. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:most types show autosomal dominant inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most types show autosomal dominant inheritance | rel=r_associated | relid=0 | w=31
  2759. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mother who carries the mutation is clinically unaffected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mother who carries the mutation is clinically unaffected | rel=r_associated | relid=0 | w=31
  2760. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:motor symptoms show mild clinical improvement with levodopa treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor symptoms show mild clinical improvement with levodopa treatment | rel=r_associated | relid=0 | w=31
  2761. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mousy odor
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mousy odor | rel=r_associated | relid=0 | w=31
  2762. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:multiorgan failure may result from hs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiorgan failure may result from hs | rel=r_associated | relid=0 | w=31
  2763. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:multiple seizures daily at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiple seizures daily at onset | rel=r_associated | relid=0 | w=31
  2764. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mutation in npr2 results in gain-of-function
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation in npr2 results in gain-of-function | rel=r_associated | relid=0 | w=31
  2765. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:mutations show partial penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutations show partial penetrance | rel=r_associated | relid=0 | w=31
  2766. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:neurologic signs onset during adolescence or young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic signs onset during adolescence or young adulthood | rel=r_associated | relid=0 | w=31
  2767. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:neurologic symptoms are progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic symptoms are progressive | rel=r_associated | relid=0 | w=31
  2768. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:new skin lesions stop appearing before adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:new skin lesions stop appearing before adolescence | rel=r_associated | relid=0 | w=31
  2769. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:no abdominal symptoms or neurologic symptoms in harderoporphyria
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | rel=r_associated | relid=0 | w=31
  2770. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:no consistent dysmorphic facial phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=31
  2771. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:no neurologic sequelae
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no neurologic sequelae | rel=r_associated | relid=0 | w=31
  2772. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:no situs inversus
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no situs inversus | rel=r_associated | relid=0 | w=31
  2773. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | rel=r_associated | relid=0 | w=31
  2774. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> 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:two unrelated families have been reported (last curated february 2016) | 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=31
  2775. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:nonreflex epilepsy may occur later in 16 to 38% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonreflex epilepsy may occur later in 16 to 38% of patients | rel=r_associated | relid=0 | w=31
  2776. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:nonspecific subtle dysmorphic facial features may be present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonspecific subtle dysmorphic facial features may be present | rel=r_associated | relid=0 | w=31
  2777. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2778. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:normal alleles contain up to 44 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal alleles contain up to 44 repeats | rel=r_associated | relid=0 | w=31
  2779. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:nyctalopia is a later feature of the disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nyctalopia is a later feature of the disorder | rel=r_associated | relid=0 | w=31
  2780. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:nystagmus is often the presenting sign
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nystagmus is often the presenting sign | rel=r_associated | relid=0 | w=31
  2781. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:nystagmus may disappear by mid-childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nystagmus may disappear by mid-childhood | rel=r_associated | relid=0 | w=31
  2782. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:occurs most often among black africans
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs most often among black africans | rel=r_associated | relid=0 | w=31
  2783. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2784. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one chinese family with 14 affected individuals has been described (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=31
  2785. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one consanguineous arab family has been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous arab family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=31
  2786. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=31
  2787. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  2788. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one consanguineous pakistani family reported (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family reported (last curated august 2013) | rel=r_associated | relid=0 | w=31
  2789. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one consanguineous pakistani reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani reported (last curated july 2015) | rel=r_associated | relid=0 | w=31
  2790. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one consanguineous turkish family has been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous turkish family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31
  2791. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one family and 2 unrelated patients have been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=31
  2792. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one family has been reported and no additional clinical features were provided (last curated june 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | rel=r_associated | relid=0 | w=31
  2793. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one family of italian-american descent has been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of italian-american descent has been described | rel=r_associated | relid=0 | w=31
  2794. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one family reported (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (last curated january 2014) | rel=r_associated | relid=0 | w=31
  2795. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one family reported (last curated june 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (last curated june 2009) | rel=r_associated | relid=0 | w=31
  2796. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one family with 5 affected members has been reported (last curated september 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 5 affected members has been reported (last curated september 2012) | rel=r_associated | relid=0 | w=31
  2797. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=31
  2798. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one patient with a homozygous mutation has been reported (as of 14 june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | rel=r_associated | relid=0 | w=31
  2799. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one patient with normal psychomotor development has been reported (last curated december 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with normal psychomotor development has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=31
  2800. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one swedish patient has been reported (last curated november 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one swedish patient has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=31
  2801. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:one-third of cases are familial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one-third of cases are familial | rel=r_associated | relid=0 | w=31
  2802. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset 6 months to 2.5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 6 months to 2.5 years | rel=r_associated | relid=0 | w=31
  2803. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset 6 to 12 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 6 to 12 months | rel=r_associated | relid=0 | w=31
  2804. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset 6-13 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 6-13 years | rel=r_associated | relid=0 | w=31
  2805. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset age 14-28 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset age 14-28 years | rel=r_associated | relid=0 | w=31
  2806. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset around age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset around age 2 years | rel=r_associated | relid=0 | w=31
  2807. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset as neonate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset as neonate | rel=r_associated | relid=0 | w=31
  2808. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset between 6 and 9 months after normal early development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 6 and 9 months after normal early development | rel=r_associated | relid=0 | w=31
  2809. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset between age 2 and 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between age 2 and 15 years | rel=r_associated | relid=0 | w=31
  2810. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset between the second and sixth decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between the second and sixth decades | rel=r_associated | relid=0 | w=31
  2811. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset bimodal, ages 16-22 and ages 57-60
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset bimodal, ages 16-22 and ages 57-60 | rel=r_associated | relid=0 | w=31
  2812. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset first to seventh decade with 30 to 40 year mode
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset first to seventh decade with 30 to 40 year mode | rel=r_associated | relid=0 | w=31
  2813. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in childhood (later than in antenatal bartter syndrome 241200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (later than in antenatal bartter syndrome 241200) | rel=r_associated | relid=0 | w=31
  2814. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in childhood or young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or young adulthood | rel=r_associated | relid=0 | w=31
  2815. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in early childhood or adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood or adolescence | rel=r_associated | relid=0 | w=31
  2816. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in early to late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early to late childhood | rel=r_associated | relid=0 | w=31
  2817. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade of life | rel=r_associated | relid=0 | w=31
  2818. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in lower limbs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in lower limbs | rel=r_associated | relid=0 | w=31
  2819. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in mid to late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in mid to late childhood | rel=r_associated | relid=0 | w=31
  2820. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in second and third decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second and third decades | rel=r_associated | relid=0 | w=31
  2821. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in second or third decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second or third decades | rel=r_associated | relid=0 | w=31
  2822. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in teens or early twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in teens or early twenties | rel=r_associated | relid=0 | w=31
  2823. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in the first hours or days of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the first hours or days of life | rel=r_associated | relid=0 | w=31
  2824. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in the first or second decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the first or second decades of life | rel=r_associated | relid=0 | w=31
  2825. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in third to fourth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in third to fourth decade | rel=r_associated | relid=0 | w=31
  2826. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in utero or in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in utero or in infancy | rel=r_associated | relid=0 | w=31
  2827. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in young adulthood | rel=r_associated | relid=0 | w=31
  2828. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset may occur in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset may occur in adulthood | rel=r_associated | relid=0 | w=31
  2829. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of bone fragility in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of bone fragility in childhood | rel=r_associated | relid=0 | w=31
  2830. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of cardiac symptoms in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of cardiac symptoms in adolescence | rel=r_associated | relid=0 | w=31
  2831. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of disease 3-30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease 3-30 years | rel=r_associated | relid=0 | w=31
  2832. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of disease in late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease in late childhood | rel=r_associated | relid=0 | w=31
  2833. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of edema in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of edema in childhood | rel=r_associated | relid=0 | w=31
  2834. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | rel=r_associated | relid=0 | w=31
  2835. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of fracture usually when child begins to walk
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of fracture usually when child begins to walk | rel=r_associated | relid=0 | w=31
  2836. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of hearing loss in second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in second decade | rel=r_associated | relid=0 | w=31
  2837. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of hearing loss prior to or during adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss prior to or during adolescence | rel=r_associated | relid=0 | w=31
  2838. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of muscle weakness in late adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of muscle weakness in late adulthood | rel=r_associated | relid=0 | w=31
  2839. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of night blindness varies among patients from early childhood to mid thirties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=31
  2840. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of proteinuria in the second to fourth decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of proteinuria in the second to fourth decades | rel=r_associated | relid=0 | w=31
  2841. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of symptoms in second or third decade (mean 25 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in second or third decade (mean 25 years) | rel=r_associated | relid=0 | w=31
  2842. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of symptoms in third to sixth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in third to sixth decade of life | rel=r_associated | relid=0 | w=31
  2843. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of thrombocytopenia in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of thrombocytopenia in early childhood | rel=r_associated | relid=0 | w=31
  2844. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset of tremor usually before onset of seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of tremor usually before onset of seizures | rel=r_associated | relid=0 | w=31
  2845. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | rel=r_associated | relid=0 | w=31
  2846. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset usually in the first decade (range 0.8 to 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in the first decade (range 0.8 to 5 years) | rel=r_associated | relid=0 | w=31
  2847. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset usually in the neonatal period although later onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in the neonatal period although later onset has been reported | rel=r_associated | relid=0 | w=31
  2848. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:onset within the first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset within the first decade of life | rel=r_associated | relid=0 | w=31
  2849. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:opportunistic infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:opportunistic infections | rel=r_associated | relid=0 | w=31
  2850. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | rel=r_associated | relid=0 | w=31
  2851. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:pancreatic endocrine abnormalities reported in 1 family only
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pancreatic endocrine abnormalities reported in 1 family only | rel=r_associated | relid=0 | w=31
  2852. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | rel=r_associated | relid=0 | w=31
  2853. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:paternal anticipation bias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:paternal anticipation bias | rel=r_associated | relid=0 | w=31
  2854. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients are often asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are often asymptomatic | rel=r_associated | relid=0 | w=31
  2855. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients develop aortic dissection with little or no aortic enlargement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients develop aortic dissection with little or no aortic enlargement | rel=r_associated | relid=0 | w=31
  2856. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients die in infancy due to infectious complications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients die in infancy due to infectious complications | rel=r_associated | relid=0 | w=31
  2857. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients do not have ectopia lentis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients do not have ectopia lentis | rel=r_associated | relid=0 | w=31
  2858. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients have normal levels of vitamin a, beta-carotene, and zinc
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients have normal levels of vitamin a, beta-carotene, and zinc | rel=r_associated | relid=0 | w=31
  2859. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients have normal pituitary function
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients have normal pituitary function | rel=r_associated | relid=0 | w=31
  2860. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients have severe anemia requiring regular transfusions for normal activity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients have severe anemia requiring regular transfusions for normal activity | rel=r_associated | relid=0 | w=31
  2861. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients need support with walking or are wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients need support with walking or are wheelchair-bound | rel=r_associated | relid=0 | w=31
  2862. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2863. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | rel=r_associated | relid=0 | w=31
  2864. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:peak age of onset in second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:peak age of onset in second decade | rel=r_associated | relid=0 | w=31
  2865. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2866. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with denys-drash syndrome (194080).
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with denys-drash syndrome (194080). | rel=r_associated | relid=0 | w=31
  2867. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:plantar contractures become apparent with onset of ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:plantar contractures become apparent with onset of ambulation | rel=r_associated | relid=0 | w=31
  2868. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:poland syndrome can be associated with moebius syndrome (157900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poland syndrome can be associated with moebius syndrome (157900) | rel=r_associated | relid=0 | w=31
  2869. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:poor outcome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor outcome | rel=r_associated | relid=0 | w=31
  2870. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:positive response to treatment with growth hormone
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:positive response to treatment with growth hormone | rel=r_associated | relid=0 | w=31
  2871. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | rel=r_associated | relid=0 | w=31
  2872. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:precipitated by mechanical compression or pressure on nerve
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitated by mechanical compression or pressure on nerve | rel=r_associated | relid=0 | w=31
  2873. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:precipitation by pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=31
  2874. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:predominantly occurs in young males with a high rate of atopic disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:predominantly occurs in young males with a high rate of atopic disease | rel=r_associated | relid=0 | w=31
  2875. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prenatal history of maternal diabetes in 35% of cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal history of maternal diabetes in 35% of cases | rel=r_associated | relid=0 | w=31
  2876. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prenatal or perinatal death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal or perinatal death | rel=r_associated | relid=0 | w=31
  2877. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:present at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:present at birth | rel=r_associated | relid=0 | w=31
  2878. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:presentation in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation in early childhood | rel=r_associated | relid=0 | w=31
  2879. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:presents at a later age than sporadic wilms tumor
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presents at a later age than sporadic wilms tumor | rel=r_associated | relid=0 | w=31
  2880. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence 1-2% in northern european populations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence 1-2% in northern european populations | rel=r_associated | relid=0 | w=31
  2881. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence in sardinia is 1 in 14,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in sardinia is 1 in 14,000 | rel=r_associated | relid=0 | w=31
  2882. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 150 to 1 in 1,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 150 to 1 in 1,000 | rel=r_associated | relid=0 | w=31
  2883. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 2,833 in zimbabwe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 2,833 in zimbabwe | rel=r_associated | relid=0 | w=31
  2884. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 227 hopi indians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 227 hopi indians | rel=r_associated | relid=0 | w=31
  2885. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 240 zuni indians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 240 zuni indians | rel=r_associated | relid=0 | w=31
  2886. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 300,000 in quebec
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 300,000 in quebec | rel=r_associated | relid=0 | w=31
  2887. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of in 1 in 8,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of in 1 in 8,000 | rel=r_associated | relid=0 | w=31
  2888. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of sleep terrors less than 1% in adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of sleep terrors less than 1% in adults | rel=r_associated | relid=0 | w=31
  2889. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of sleepwalking about 3% in adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of sleepwalking about 3% in adults | rel=r_associated | relid=0 | w=31
  2890. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence of sleepwalking up to 26% in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of sleepwalking up to 26% in childhood | rel=r_associated | relid=0 | w=31
  2891. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalence rates average 10-20% of the general population over age 60
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence rates average 10-20% of the general population over age 60 | rel=r_associated | relid=0 | w=31
  2892. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | rel=r_associated | relid=0 | w=31
  2893. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:primarily diagnosed in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:primarily diagnosed in females | rel=r_associated | relid=0 | w=31
  2894. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2895. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:progressive deafness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive deafness | rel=r_associated | relid=0 | w=31
  2896. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:progressive disease is seen in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disease is seen in some patients | rel=r_associated | relid=0 | w=31
  2897. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:protein c deficiency is found in 3-4% of patients with venous thromboembolism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | rel=r_associated | relid=0 | w=31
  2898. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:psychiatric symptoms may be the presenting sign
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:psychiatric symptoms may be the presenting sign | rel=r_associated | relid=0 | w=31
  2899. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:psychomotor delay may already be apparent at onset of seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:psychomotor delay may already be apparent at onset of seizures | rel=r_associated | relid=0 | w=31
  2900. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:rapidly progressive course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive course | rel=r_associated | relid=0 | w=31
  2901. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:rash, edema, and arthralgia may occur during crisis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rash, edema, and arthralgia may occur during crisis | rel=r_associated | relid=0 | w=31
  2902. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | rel=r_associated | relid=0 | w=31
  2903. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:reduced life expectancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced life expectancy | rel=r_associated | relid=0 | w=31
  2904. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:reduced penetrance (75%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance (75%) | rel=r_associated | relid=0 | w=31
  2905. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:relatively mild phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=31
  2906. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | rel=r_associated | relid=0 | w=31
  2907. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | rel=r_associated | relid=0 | w=31
  2908. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:risk of affected offspring in paternal translocation carrier - 0-7%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of affected offspring in paternal translocation carrier - 0-7% | rel=r_associated | relid=0 | w=31
  2909. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:risk of sudden death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of sudden death | rel=r_associated | relid=0 | w=31
  2910. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | rel=r_associated | relid=0 | w=31
  2911. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> 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:two unrelated families have been reported (last curated february 2016) | 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=31
  2912. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant form (160800), which is less common and less severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant form (160800), which is less common and less severe | rel=r_associated | relid=0 | w=31
  2913. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant form (176860)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant form (176860) | rel=r_associated | relid=0 | w=31
  2914. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | rel=r_associated | relid=0 | w=31
  2915. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also cblc (277400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also cblc (277400) | rel=r_associated | relid=0 | w=31
  2916. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also cmtx1 (302800) and cmt3x (302802)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also cmtx1 (302800) and cmt3x (302802) | rel=r_associated | relid=0 | w=31
  2917. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also erythrocytosis 1 (ecyt1, 133100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also erythrocytosis 1 (ecyt1, 133100) | rel=r_associated | relid=0 | w=31
  2918. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also infantile (600649) and late-onset (255110) cpt ii deficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | rel=r_associated | relid=0 | w=31
  2919. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also pseudohypoparathyroidism type ia (103580)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pseudohypoparathyroidism type ia (103580) | rel=r_associated | relid=0 | w=31
  2920. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also pseudohypoparathyroidism type ib (603233) and ic (612462)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | rel=r_associated | relid=0 | w=31
  2921. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | rel=r_associated | relid=0 | w=31
  2922. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also the non-herlitz type of jeb (226650), a less severe disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also the non-herlitz type of jeb (226650), a less severe disorder | rel=r_associated | relid=0 | w=31
  2923. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see also the x-linked form (300291)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also the x-linked form (300291) | rel=r_associated | relid=0 | w=31
  2924. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | rel=r_associated | relid=0 | w=31
  2925. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | rel=r_associated | relid=0 | w=31
  2926. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures are fever-sensitive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are fever-sensitive | rel=r_associated | relid=0 | w=31
  2927. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures are refractory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are refractory | rel=r_associated | relid=0 | w=31
  2928. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures are usually refractory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are usually refractory | rel=r_associated | relid=0 | w=31
  2929. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures may occur upon awakening or at any time during the day
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may occur upon awakening or at any time during the day | rel=r_associated | relid=0 | w=31
  2930. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures may occur with illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may occur with illness | rel=r_associated | relid=0 | w=31
  2931. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures may remit later in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may remit later in childhood | rel=r_associated | relid=0 | w=31
  2932. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures remit by age 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures remit by age 5 years | rel=r_associated | relid=0 | w=31
  2933. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures remit in later childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures remit in later childhood | rel=r_associated | relid=0 | w=31
  2934. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:seizures tend to become more focal with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures tend to become more focal with age | rel=r_associated | relid=0 | w=31
  2935. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:serum triglycerides decrease with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:serum triglycerides decrease with age | rel=r_associated | relid=0 | w=31
  2936. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2937. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  2938. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2939. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2940. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2941. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2942. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2943. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  2944. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31
  2945. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2946. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:severe disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe disorder | rel=r_associated | relid=0 | w=31
  2947. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:severe infantile form presents before 6 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe infantile form presents before 6 months | rel=r_associated | relid=0 | w=31
  2948. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:severe neurodegenerative course resulting in a comatose state or death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe neurodegenerative course resulting in a comatose state or death | rel=r_associated | relid=0 | w=31
  2949. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe phenotype | rel=r_associated | relid=0 | w=31
  2950. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:severe phenotype onset - neonate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe phenotype onset - neonate | rel=r_associated | relid=0 | w=31
  2951. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:sex ratio - 2 females to 1 male
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sex ratio - 2 females to 1 male | rel=r_associated | relid=0 | w=31
  2952. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2953. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:significant clinical overlap with sotos syndrome (117550)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:significant clinical overlap with sotos syndrome (117550) | rel=r_associated | relid=0 | w=31
  2954. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:significant phenotypic variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:significant phenotypic variability | rel=r_associated | relid=0 | w=31
  2955. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:six genetically confirmed patients have been reported (as of december 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:six genetically confirmed patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=31
  2956. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:six patients reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:six patients reported (last curated march 2015) | rel=r_associated | relid=0 | w=31
  2957. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:skewed x-inactivation in carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skewed x-inactivation in carriers | rel=r_associated | relid=0 | w=31
  2958. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:skin and hair abnormalities apparent at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin and hair abnormalities apparent at birth | rel=r_associated | relid=0 | w=31
  2959. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:skin lesions on back, face, nape of neck, and waist tend to be mild
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions on back, face, nape of neck, and waist tend to be mild | rel=r_associated | relid=0 | w=31
  2960. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:skin lesions resolve between 6 months and 2 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions resolve between 6 months and 2 years of age | rel=r_associated | relid=0 | w=31
  2961. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:slight increased risk for malignancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slight increased risk for malignancy | rel=r_associated | relid=0 | w=31
  2962. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:smaller repeat lengths in younger generations (reverse anticipation)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:smaller repeat lengths in younger generations (reverse anticipation) | rel=r_associated | relid=0 | w=31
  2963. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some affected individuals have normal subsequent development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some affected individuals have normal subsequent development | rel=r_associated | relid=0 | w=31
  2964. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some heterozygotes may have increased urinary excretion of cystine and may develop stones
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | rel=r_associated | relid=0 | w=31
  2965. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients become wheelchair-bound in second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients become wheelchair-bound in second decade | rel=r_associated | relid=0 | w=31
  2966. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients do not reach end-stage renal failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not reach end-stage renal failure | rel=r_associated | relid=0 | w=31
  2967. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients have a crouzon-like appearance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have a crouzon-like appearance | rel=r_associated | relid=0 | w=31
  2968. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients have an attenuated phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have an attenuated phenotype | rel=r_associated | relid=0 | w=31
  2969. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | rel=r_associated | relid=0 | w=31
  2970. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients may become bedridden 10 to 20 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may become bedridden 10 to 20 years after onset | rel=r_associated | relid=0 | w=31
  2971. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients may become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may become wheelchair-bound | rel=r_associated | relid=0 | w=31
  2972. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients may have a milder phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have a milder phenotype | rel=r_associated | relid=0 | w=31
  2973. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients may have normal psychomotor development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have normal psychomotor development | rel=r_associated | relid=0 | w=31
  2974. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients may show a favorable response to oral coenzyme q10 supplementation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may show a favorable response to oral coenzyme q10 supplementation | rel=r_associated | relid=0 | w=31
  2975. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients may show mild decrease in head circumference over time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may show mild decrease in head circumference over time | rel=r_associated | relid=0 | w=31
  2976. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:some patients report seasonal variation in symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients report seasonal variation in symptoms | rel=r_associated | relid=0 | w=31
  2977. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:spasticity is slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spasticity is slowly progressive | rel=r_associated | relid=0 | w=31
  2978. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:spontaneous bleeding is rare
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous bleeding is rare | rel=r_associated | relid=0 | w=31
  2979. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:stage iv, late motor deterioration (when ambulation ceases)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stage iv, late motor deterioration (when ambulation ceases) | rel=r_associated | relid=0 | w=31
  2980. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:subset of patients have cytochrome c oxidase deficiency (see 220110)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | rel=r_associated | relid=0 | w=31
  2981. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:sudden cardiac death frequent in affected families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden cardiac death frequent in affected families | rel=r_associated | relid=0 | w=31
  2982. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:survival greater than one year rare
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival greater than one year rare | rel=r_associated | relid=0 | w=31
  2983. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:survival to 20s-60s in iib
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival to 20s-60s in iib | rel=r_associated | relid=0 | w=31
  2984. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:symptoms are not apparent at rest
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms are not apparent at rest | rel=r_associated | relid=0 | w=31
  2985. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:symptoms precipitated by sudden movements
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by sudden movements | rel=r_associated | relid=0 | w=31
  2986. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:those with intermediate repeat expansions show reduced penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:those with intermediate repeat expansions show reduced penetrance | rel=r_associated | relid=0 | w=31
  2987. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three families have been reported (as of september 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=31
  2988. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three main phenotypes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three main phenotypes | rel=r_associated | relid=0 | w=31
  2989. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three patients (2 related) reported (last curated march 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients (2 related) reported (last curated march 2013) | rel=r_associated | relid=0 | w=31
  2990. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=31
  2991. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three patients have been described (last curated january 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients have been described (last curated january 2013) | rel=r_associated | relid=0 | w=31
  2992. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=31
  2993. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three unrelated caucasian patients have been reported (as of january 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated caucasian patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=31
  2994. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three unrelated families have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=31
  2995. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:three unrelated patients have been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31
  2996. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:thyroid carcinoma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:thyroid carcinoma | rel=r_associated | relid=0 | w=31
  2997. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:treatment with betaine, especially for pyridoxine nonresponders
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with betaine, especially for pyridoxine nonresponders | rel=r_associated | relid=0 | w=31
  2998. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:treatment with levodopa is not effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with levodopa is not effective | rel=r_associated | relid=0 | w=31
  2999. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:tremor is aggravated by low glucose or light
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tremor is aggravated by low glucose or light | rel=r_associated | relid=0 | w=31
  3000. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:tremor may be elicited by movement or postural maintenance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tremor may be elicited by movement or postural maintenance | rel=r_associated | relid=0 | w=31
  3001. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | rel=r_associated | relid=0 | w=31
  3002. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:twinning due to superfetation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:twinning due to superfetation | rel=r_associated | relid=0 | w=31
  3003. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two arab muslim families have been reported (last curated october 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two arab muslim families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=31
  3004. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> 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:two unrelated families have been reported (last curated february 2016) | 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=31
  3005. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | rel=r_associated | relid=0 | w=31
  3006. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two consanguineous families with 2 patients each have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=31
  3007. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two consanguineous families with two affected sibs each have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  3008. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two consanguineous lebanese families have been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two consanguineous lebanese families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=31
  3009. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two consanguineous turkish families have been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two consanguineous turkish families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=31
  3010. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two families have been reported (as of 6/2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (as of 6/2011) | rel=r_associated | relid=0 | w=31
  3011. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two families have been reported (as of june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=31
  3012. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two main phenotypes, severe and mild
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two main phenotypes, severe and mild | rel=r_associated | relid=0 | w=31
  3013. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two of 3 patients became wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two of 3 patients became wheelchair-bound | rel=r_associated | relid=0 | w=31
  3014. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two pakistani families reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two pakistani families reported (last curated july 2014) | rel=r_associated | relid=0 | w=31
  3015. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two patients reported (last curated may 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients reported (last curated may 2013) | rel=r_associated | relid=0 | w=31
  3016. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two peaks of onset, childhood and adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two peaks of onset, childhood and adult | rel=r_associated | relid=0 | w=31
  3017. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two sibs have been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=31
  3018. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two sisters have been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sisters have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=31
  3019. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two subtypes - seminoma and nonseminoma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two subtypes - seminoma and nonseminoma | rel=r_associated | relid=0 | w=31
  3020. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two types - lethal neonatal and less severe, late onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two types - lethal neonatal and less severe, late onset | rel=r_associated | relid=0 | w=31
  3021. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (as of july 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (as of july 2011) | rel=r_associated | relid=0 | w=31
  3022. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=31
  3023. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=31
  3024. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated families of european descent have been reported (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families of european descent have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=31
  3025. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated japanese families have been reported (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated japanese families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=31
  3026. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated japanese patients have been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated japanese patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=31
  3027. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated june 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=31
  3028. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients with different phenotypes have been reported (as of march 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | rel=r_associated | relid=0 | w=31
  3029. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:type 1 - associated with osteogenesis imperfecta (125490)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 1 - associated with osteogenesis imperfecta (125490) | rel=r_associated | relid=0 | w=31
  3030. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:type a characterized by progressive myoclonic epilepsy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type a characterized by progressive myoclonic epilepsy | rel=r_associated | relid=0 | w=31
  3031. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:type b characterized by dementia, motor disturbances, and facial dyskinesia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | rel=r_associated | relid=0 | w=31
  3032. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:types of psoriasis include - plaque, guttate, erythrodermic, pustular
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | rel=r_associated | relid=0 | w=31
  3033. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:typically no physical features of albright hereditary osteodystrophy (aho)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:typically no physical features of albright hereditary osteodystrophy (aho) | rel=r_associated | relid=0 | w=31
  3034. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:u.s. frequency higher in blacks than whites
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:u.s. frequency higher in blacks than whites | rel=r_associated | relid=0 | w=31
  3035. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | rel=r_associated | relid=0 | w=31
  3036. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:urine turns dark on standing and alkalinization
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:urine turns dark on standing and alkalinization | rel=r_associated | relid=0 | w=31
  3037. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:ush3 cases account for 40% of all usher patients in finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ush3 cases account for 40% of all usher patients in finland | rel=r_associated | relid=0 | w=31
  3038. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | rel=r_associated | relid=0 | w=31
  3039. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:usually fatal within the first few weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually fatal within the first few weeks of life | rel=r_associated | relid=0 | w=31
  3040. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:usually follows a static course or is slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually follows a static course or is slowly progressive | rel=r_associated | relid=0 | w=31
  3041. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:usually lethal in the neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually lethal in the neonatal period | rel=r_associated | relid=0 | w=31
  3042. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:usually no increased fragility of hair
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually no increased fragility of hair | rel=r_associated | relid=0 | w=31
  3043. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:usually poor response to steroid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually poor response to steroid treatment | rel=r_associated | relid=0 | w=31
  3044. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=31
  3045. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (childhood to age 50)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (childhood to age 50) | rel=r_associated | relid=0 | w=31
  3046. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range from early childhood to mid-adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range from early childhood to mid-adult) | rel=r_associated | relid=0 | w=31
  3047. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range prenatal to mid-adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range prenatal to mid-adulthood) | rel=r_associated | relid=0 | w=31
  3048. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, range from infancy to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, range from infancy to adulthood | rel=r_associated | relid=0 | w=31
  3049. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, range infancy to adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, range infancy to adult | rel=r_associated | relid=0 | w=31
  3050. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, ranges from third to fifth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, ranges from third to fifth decade of life | rel=r_associated | relid=0 | w=31
  3051. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, ranging from 18 months to 27 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, ranging from 18 months to 27 years | rel=r_associated | relid=0 | w=31
  3052. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable age of onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset | rel=r_associated | relid=0 | w=31
  3053. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable clinical severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable clinical severity | rel=r_associated | relid=0 | w=31
  3054. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable expressivity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expressivity | rel=r_associated | relid=0 | w=31
  3055. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable facial dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable facial dysmorphic features | rel=r_associated | relid=0 | w=31
  3056. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable penetrance | rel=r_associated | relid=0 | w=31
  3057. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable penetrance of these features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable penetrance of these features | rel=r_associated | relid=0 | w=31
  3058. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable phenotype (myotonia may or may not be present)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype (myotonia may or may not be present) | rel=r_associated | relid=0 | w=31
  3059. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable phenotype within families ranging from woolly hair to hypotrichosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype within families ranging from woolly hair to hypotrichosis | rel=r_associated | relid=0 | w=31
  3060. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable presentation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable presentation | rel=r_associated | relid=0 | w=31
  3061. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable severity (mild symptoms to severe handicap)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity (mild symptoms to severe handicap) | rel=r_associated | relid=0 | w=31
  3062. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variable survival (some neonatal lethality)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable survival (some neonatal lethality) | rel=r_associated | relid=0 | w=31
  3063. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:variably expressivity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variably expressivity | rel=r_associated | relid=0 | w=31
  3064. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:very slow progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:very slow progression | rel=r_associated | relid=0 | w=31
  3065. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:vhl type 2b - renal carcinoma and pheochromocytoma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:vhl type 2b - renal carcinoma and pheochromocytoma | rel=r_associated | relid=0 | w=31
  3066. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:waddling gait, often presenting sign in second year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:waddling gait, often presenting sign in second year | rel=r_associated | relid=0 | w=31
  3067. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:wasting of the hands is the first and most prominent manifestation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wasting of the hands is the first and most prominent manifestation | rel=r_associated | relid=0 | w=31
  3068. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:worldwide frequency of 1 in 100,000 infants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:worldwide frequency of 1 in 100,000 infants | rel=r_associated | relid=0 | w=31
  3069. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 31 / 0.721 -> en:younger onset rarely reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:younger onset rarely reported | rel=r_associated | relid=0 | w=31
  3070. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:10% due to paternal deletion
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:10% due to paternal deletion | rel=r_associated | relid=0 | w=30
  3071. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:50% of cases are de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:50% of cases are de novo | rel=r_associated | relid=0 | w=30
  3072. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:50% of females have learning disability or mild mental retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:50% of females have learning disability or mild mental retardation | rel=r_associated | relid=0 | w=30
  3073. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | rel=r_associated | relid=0 | w=30
  3074. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:95% of cases are sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:95% of cases are sporadic | rel=r_associated | relid=0 | w=30
  3075. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:a subset of patients have a 'visual variant'
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subset of patients have a 'visual variant' | rel=r_associated | relid=0 | w=30
  3076. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | rel=r_associated | relid=0 | w=30
  3077. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:a subset of patients may have congenital abnormalities of the ocular anterior segment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | rel=r_associated | relid=0 | w=30
  3078. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:abnormal sensitivity to therapeutic radiation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=30
  3079. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:about 25% of cases due to new mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 25% of cases due to new mutations | rel=r_associated | relid=0 | w=30
  3080. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:about a dozen patients have been reported (as of march 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about a dozen patients have been reported (as of march 2012) | rel=r_associated | relid=0 | w=30
  3081. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:accounts for 70% of all usher syndrome patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accounts for 70% of all usher syndrome patients | rel=r_associated | relid=0 | w=30
  3082. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:adams-stokes syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adams-stokes syndrome | rel=r_associated | relid=0 | w=30
  3083. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:additional features are variably present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:additional features are variably present | rel=r_associated | relid=0 | w=30
  3084. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset | rel=r_associated | relid=0 | w=30
  3085. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:adult onset (mean 30 years, range 5-60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (mean 30 years, range 5-60 years) | rel=r_associated | relid=0 | w=30
  3086. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:adult onset (sixth decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (sixth decade) | rel=r_associated | relid=0 | w=30
  3087. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:adult onset may also occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset may also occur | rel=r_associated | relid=0 | w=30
  3088. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:adult onset of muscle symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset of muscle symptoms | rel=r_associated | relid=0 | w=30
  3089. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:affected females have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected females have been reported | rel=r_associated | relid=0 | w=30
  3090. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:affected females may have increased spontaneous abortions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected females may have increased spontaneous abortions | rel=r_associated | relid=0 | w=30
  3091. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:affected individuals are negative for dermatographism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals are negative for dermatographism | rel=r_associated | relid=0 | w=30
  3092. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:affected infants often die in utero or in the postnatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected infants often die in utero or in the postnatal period | rel=r_associated | relid=0 | w=30
  3093. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:affected males have normal pubertal development and are fertile
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males have normal pubertal development and are fertile | rel=r_associated | relid=0 | w=30
  3094. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:age at diagnosis 28 +/- 18 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at diagnosis 28 +/- 18 years | rel=r_associated | relid=0 | w=30
  3095. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:age at onset ranges from 50 to 70 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset ranges from 50 to 70 years | rel=r_associated | relid=0 | w=30
  3096. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:age at onset ranges from childhood to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=30
  3097. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:age of onset 20-65 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 20-65 years | rel=r_associated | relid=0 | w=30
  3098. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:age of onset, 6-20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset, 6-20 years | rel=r_associated | relid=0 | w=30
  3099. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | rel=r_associated | relid=0 | w=30
  3100. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to corticosterone methyloxidase type i deficiency (203400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | rel=r_associated | relid=0 | w=30
  3101. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | rel=r_associated | relid=0 | w=30
  3102. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to opitz-kaveggia syndrome (305450)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to opitz-kaveggia syndrome (305450) | rel=r_associated | relid=0 | w=30
  3103. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | rel=r_associated | relid=0 | w=30
  3104. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | rel=r_associated | relid=0 | w=30
  3105. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to spastic paraplegia-3 (spg3, 182600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | rel=r_associated | relid=0 | w=30
  3106. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic disorders with clinical overlap include dss and cmt1b (118200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | rel=r_associated | relid=0 | w=30
  3107. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> 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:two unrelated families have been reported (last curated february 2016) | 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=30
  3108. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to anterior segment mesenchymal dysgenesis (107250)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to anterior segment mesenchymal dysgenesis (107250) | rel=r_associated | relid=0 | w=30
  3109. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=30
  3110. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | rel=r_associated | relid=0 | w=30
  3111. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to leopard syndrome (151100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to leopard syndrome (151100) | rel=r_associated | relid=0 | w=30
  3112. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | rel=r_associated | relid=0 | w=30
  3113. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to metaphyseal dysplasia without hypotrichosis (250460)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=30
  3114. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=30
  3115. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | rel=r_associated | relid=0 | w=30
  3116. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to sialuria, finnish type (604369)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to sialuria, finnish type (604369) | rel=r_associated | relid=0 | w=30
  3117. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | rel=r_associated | relid=0 | w=30
  3118. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | rel=r_associated | relid=0 | w=30
  3119. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | rel=r_associated | relid=0 | w=30
  3120. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:ambulation is preserved
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ambulation is preserved | rel=r_associated | relid=0 | w=30
  3121. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:anemia does not respond to alpha-interferon treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia does not respond to alpha-interferon treatment | rel=r_associated | relid=0 | w=30
  3122. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:approximately 40% of patients die within newborn period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 40% of patients die within newborn period | rel=r_associated | relid=0 | w=30
  3123. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3124. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:approximately 60% of brrs patients have pten mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 60% of brrs patients have pten mutations | rel=r_associated | relid=0 | w=30
  3125. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:approximately 70-80% of cases are de novo and sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=30
  3126. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:approximately half of the mutations are de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately half of the mutations are de novo | rel=r_associated | relid=0 | w=30
  3127. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:assisted ambulation or wheelchair-dependent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:assisted ambulation or wheelchair-dependent | rel=r_associated | relid=0 | w=30
  3128. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:asymptomatic if papillary zone is spared
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:asymptomatic if papillary zone is spared | rel=r_associated | relid=0 | w=30
  3129. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:attacks are not responsive to acetazolamide
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks are not responsive to acetazolamide | rel=r_associated | relid=0 | w=30
  3130. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:autonomic dysfunction usually precedes obvious neurologic deterioration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autonomic dysfunction usually precedes obvious neurologic deterioration | rel=r_associated | relid=0 | w=30
  3131. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=30
  3132. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive cases tend to have a more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive cases tend to have a more severe phenotype | rel=r_associated | relid=0 | w=30
  3133. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive cytochrome b-negative cgd (233690)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive cytochrome b-negative cgd (233690) | rel=r_associated | relid=0 | w=30
  3134. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive form (277720) has also been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=30
  3135. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive inheritance has been described in 2 families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has been described in 2 families | rel=r_associated | relid=0 | w=30
  3136. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:average age at death is 37 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at death is 37 years | rel=r_associated | relid=0 | w=30
  3137. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:average onset of seizures 6 months (range 3-12)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=30
  3138. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on 1 report of monozygotic twins (last curated may 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 report of monozygotic twins (last curated may 2014) | rel=r_associated | relid=0 | w=30
  3139. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on 1 reported family (last curated december 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 reported family (last curated december 2013) | rel=r_associated | relid=0 | w=30
  3140. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on 1 reported patient (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 reported patient (last curated november 2013) | rel=r_associated | relid=0 | w=30
  3141. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on 2 men from 2 unrelated consanguineous iranian families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 men from 2 unrelated consanguineous iranian families | rel=r_associated | relid=0 | w=30
  3142. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on 2 unrelated chinese families (last curated july 2014).
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 unrelated chinese families (last curated july 2014). | rel=r_associated | relid=0 | w=30
  3143. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3144. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on one patient (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one patient (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3145. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on one report of 3 consanguineous pakistani families (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3146. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3147. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on report of 2 families (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 families (last curated january 2014) | rel=r_associated | relid=0 | w=30
  3148. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on report of 3 unrelated children (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 3 unrelated children (last curated january 2016) | rel=r_associated | relid=0 | w=30
  3149. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on report of a hispanic mother and son (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of a hispanic mother and son (last curated february 2016) | rel=r_associated | relid=0 | w=30
  3150. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3151. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  3152. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:between 2 and 7% of children will develop afebrile seizure disorders later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | rel=r_associated | relid=0 | w=30
  3153. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:blood glucose monitor with integrated lancing/blood sample
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blood glucose monitor with integrated lancing/blood sample | rel=r_associated | relid=0 | w=30
  3154. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | rel=r_associated | relid=0 | w=30
  3155. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | rel=r_associated | relid=0 | w=30
  3156. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:bullae are located randomly in familial cases and apical in sporadic cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bullae are located randomly in familial cases and apical in sporadic cases | rel=r_associated | relid=0 | w=30
  3157. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:can be categorized into 3 groups
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can be categorized into 3 groups | rel=r_associated | relid=0 | w=30
  3158. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:cardiomyopathy is not a feature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=30
  3159. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | rel=r_associated | relid=0 | w=30
  3160. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:carrier females may show mild mental retardation or learning disabilities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females may show mild mental retardation or learning disabilities | rel=r_associated | relid=0 | w=30
  3161. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | rel=r_associated | relid=0 | w=30
  3162. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | rel=r_associated | relid=0 | w=30
  3163. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:chelation therapy can result in clinical improvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chelation therapy can result in clinical improvement | rel=r_associated | relid=0 | w=30
  3164. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:chromosomal hypersensitivity to ionizing radiation and alkylating agents
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | rel=r_associated | relid=0 | w=30
  3165. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3166. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clinical features may vary
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical features may vary | rel=r_associated | relid=0 | w=30
  3167. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clinical onset within first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical onset within first 2 years of life | rel=r_associated | relid=0 | w=30
  3168. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | rel=r_associated | relid=0 | w=30
  3169. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clinical variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical variability | rel=r_associated | relid=0 | w=30
  3170. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clinical variability, both pure and complicated forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=30
  3171. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clonazepam and diazepam may be effective in preventing or lessening severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clonazepam and diazepam may be effective in preventing or lessening severity | rel=r_associated | relid=0 | w=30
  3172. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:clonidine can alleviate hyperhidrosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clonidine can alleviate hyperhidrosis | rel=r_associated | relid=0 | w=30
  3173. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:colchicine treatment is not effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:colchicine treatment is not effective | rel=r_associated | relid=0 | w=30
  3174. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3175. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:communication board, non-electronic augmentative or alternative communication device
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:communication board, non-electronic augmentative or alternative communication device | rel=r_associated | relid=0 | w=30
  3176. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:cone-shaped epiphyses usually not present before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cone-shaped epiphyses usually not present before age 2 years | rel=r_associated | relid=0 | w=30
  3177. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:congenital - over 2,000 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital - over 2,000 repeats | rel=r_associated | relid=0 | w=30
  3178. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:congenital abnormality
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital abnormality | rel=r_associated | relid=0 | w=30
  3179. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:considered a myeloproliferative disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered a myeloproliferative disorder | rel=r_associated | relid=0 | w=30
  3180. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | rel=r_associated | relid=0 | w=30
  3181. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:contiguous gene syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:contiguous gene syndrome | rel=r_associated | relid=0 | w=30
  3182. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:date of analysis:tmstp:pt:xxx:qn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:date of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=30
  3183. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3184. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:de novo mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutation | rel=r_associated | relid=0 | w=30
  3185. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death at 20 to 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death at 20 to 40 years | rel=r_associated | relid=0 | w=30
  3186. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death by age 6-7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death by age 6-7 years | rel=r_associated | relid=0 | w=30
  3187. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death due to rapidly progressive pulmonary fibrosis in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=30
  3188. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death from pneumonia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=30
  3189. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in childhood occurs without bone marrow transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood occurs without bone marrow transplantation | rel=r_associated | relid=0 | w=30
  3190. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in early childhood has been reported in some presumed homozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in early childhood has been reported in some presumed homozygotes | rel=r_associated | relid=0 | w=30
  3191. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in first months of life | rel=r_associated | relid=0 | w=30
  3192. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in first-second decade of life secondary to cardio-respiratory compromise
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in first-second decade of life secondary to cardio-respiratory compromise | rel=r_associated | relid=0 | w=30
  3193. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in infancy common for patients with the classic neonatal form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy common for patients with the classic neonatal form | rel=r_associated | relid=0 | w=30
  3194. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in infancy secondary to kernicterus
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy secondary to kernicterus | rel=r_associated | relid=0 | w=30
  3195. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in neonatal period | rel=r_associated | relid=0 | w=30
  3196. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in teens secondary to cardiac failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in teens secondary to cardiac failure | rel=r_associated | relid=0 | w=30
  3197. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in the fifth or sixth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in the fifth or sixth decade | rel=r_associated | relid=0 | w=30
  3198. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death in utero or as neonate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in utero or as neonate | rel=r_associated | relid=0 | w=30
  3199. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death usually occurs before 5th decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs before 5th decade | rel=r_associated | relid=0 | w=30
  3200. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death within 12 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within 12 months | rel=r_associated | relid=0 | w=30
  3201. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:death within first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within first decade | rel=r_associated | relid=0 | w=30
  3202. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:defect in tetrahydrobiopterin (bh4) synthesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:defect in tetrahydrobiopterin (bh4) synthesis | rel=r_associated | relid=0 | w=30
  3203. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | rel=r_associated | relid=0 | w=30
  3204. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:diabetes mellitus diagnosed between third and fifth decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diabetes mellitus diagnosed between third and fifth decades of life | rel=r_associated | relid=0 | w=30
  3205. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:diabetes status:prid:pt:^patient:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diabetes status:prid:pt:^patient:nom | rel=r_associated | relid=0 | w=30
  3206. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  3207. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:dip is a pathologic diagnosis that may represent other disease entities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dip is a pathologic diagnosis that may represent other disease entities | rel=r_associated | relid=0 | w=30
  3208. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:disability by end of first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disability by end of first decade | rel=r_associated | relid=0 | w=30
  3209. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:distinct disorder from galactosemia (230400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from galactosemia (230400) | rel=r_associated | relid=0 | w=30
  3210. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:does not lead to hepatic failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:does not lead to hepatic failure | rel=r_associated | relid=0 | w=30
  3211. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:does not result in renal failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:does not result in renal failure | rel=r_associated | relid=0 | w=30
  3212. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:dwarfism not detectable at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=30
  3213. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early age of onset, usually less than 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early age of onset, usually less than 3 years | rel=r_associated | relid=0 | w=30
  3214. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early childhood onset (before age 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early childhood onset (before age 5 years) | rel=r_associated | relid=0 | w=30
  3215. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early death due to sepsis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=30
  3216. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early death occurs in affected infants (days to months after disease onset)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=30
  3217. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early death without bone marrow transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death without bone marrow transplantation | rel=r_associated | relid=0 | w=30
  3218. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early death, usually before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death, usually before age 2 years | rel=r_associated | relid=0 | w=30
  3219. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | rel=r_associated | relid=0 | w=30
  3220. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:early onset of symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset of symptoms | rel=r_associated | relid=0 | w=30
  3221. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:episodes last from several hours to days
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=30
  3222. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:episodes not triggered by alcohol, caffeine, or stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes not triggered by alcohol, caffeine, or stress | rel=r_associated | relid=0 | w=30
  3223. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:episodes of fatigue or weakness (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes of fatigue or weakness (in some patients) | rel=r_associated | relid=0 | w=30
  3224. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:estimated gene carrier frequency of 1 in 5,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated gene carrier frequency of 1 in 5,000 | rel=r_associated | relid=0 | w=30
  3225. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:evidence of prenatal fractures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:evidence of prenatal fractures | rel=r_associated | relid=0 | w=30
  3226. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:exacerbation following stress, decreased food intake, or alcohol use
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exacerbation following stress, decreased food intake, or alcohol use | rel=r_associated | relid=0 | w=30
  3227. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | rel=r_associated | relid=0 | w=30
  3228. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:family history of sudden death, as early as fourth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:family history of sudden death, as early as fourth decade of life | rel=r_associated | relid=0 | w=30
  3229. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:fatal if renal transplant is not performed
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal if renal transplant is not performed | rel=r_associated | relid=0 | w=30
  3230. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:favorable response to hydroxychloroquine treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to hydroxychloroquine treatment | rel=r_associated | relid=0 | w=30
  3231. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:features may be bilateral (15/24) or left side (9/24)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features may be bilateral (15/24) or left side (9/24) | rel=r_associated | relid=0 | w=30
  3232. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:febrile seizures remit by age 5 or 6
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:febrile seizures remit by age 5 or 6 | rel=r_associated | relid=0 | w=30
  3233. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:febrile seizures show onset between 6 months and 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:febrile seizures show onset between 6 months and 3 years | rel=r_associated | relid=0 | w=30
  3234. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:feeding difficulties in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:feeding difficulties in infancy | rel=r_associated | relid=0 | w=30
  3235. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:feet are unaffected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:feet are unaffected | rel=r_associated | relid=0 | w=30
  3236. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:female carriers may develop mild hearing loss as adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may develop mild hearing loss as adults | rel=r_associated | relid=0 | w=30
  3237. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:female carriers may have asymptomatic proteinuria or hypercalciuria
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have asymptomatic proteinuria or hypercalciuria | rel=r_associated | relid=0 | w=30
  3238. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:fifty percent of cases secondary to new mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fifty percent of cases secondary to new mutations | rel=r_associated | relid=0 | w=30
  3239. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:first described in acadian population of louisiana
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:first described in acadian population of louisiana | rel=r_associated | relid=0 | w=30
  3240. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:five patients from 3 unrelated families have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five patients from 3 unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=30
  3241. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:five patients reported (as of march 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five patients reported (as of march 2009) | rel=r_associated | relid=0 | w=30
  3242. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:five unrelated patients have been reported (nov. 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five unrelated patients have been reported (nov. 2009) | rel=r_associated | relid=0 | w=30
  3243. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:foot dragging may appear in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:foot dragging may appear in childhood | rel=r_associated | relid=0 | w=30
  3244. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30
  3245. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four families have been reported (last curated october 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=30
  3246. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four patients from 2 unrelated families have been reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 2 unrelated families have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=30
  3247. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four patients from 3 families have been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=30
  3248. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four patients from 3 families have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3249. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four patients from 3 unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  3250. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four unrelated patients have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=30
  3251. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3252. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:fractures can occur in utero, during labor and delivery, or in newborn period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=30
  3253. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:frequency of episodes ranges from several per week to several per year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency of episodes ranges from several per week to several per year | rel=r_associated | relid=0 | w=30
  3254. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:frequent falls
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequent falls | rel=r_associated | relid=0 | w=30
  3255. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3256. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:gait difficulties and beginning of cognitive decline in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gait difficulties and beginning of cognitive decline in first decade | rel=r_associated | relid=0 | w=30
  3257. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:generalized fatigue
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:generalized fatigue | rel=r_associated | relid=0 | w=30
  3258. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:generally mild phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:generally mild phenotype | rel=r_associated | relid=0 | w=30
  3259. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic anticipation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic anticipation | rel=r_associated | relid=0 | w=30
  3260. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=30
  3261. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 161800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=30
  3262. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 192600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 192600) | rel=r_associated | relid=0 | w=30
  3263. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 209850)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 209850) | rel=r_associated | relid=0 | w=30
  3264. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 605407)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=30
  3265. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see bafme2, 607876)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see bafme2, 607876) | rel=r_associated | relid=0 | w=30
  3266. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cms1a1, 605809)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cms1a1, 605809) | rel=r_associated | relid=0 | w=30
  3267. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cmt4a 214400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmt4a 214400) | rel=r_associated | relid=0 | w=30
  3268. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cmt4b2, 604563)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmt4b2, 604563) | rel=r_associated | relid=0 | w=30
  3269. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see ebn2 121201, ebn3 608217)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | rel=r_associated | relid=0 | w=30
  3270. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see feb1 121210)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see feb1 121210) | rel=r_associated | relid=0 | w=30
  3271. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | rel=r_associated | relid=0 | w=30
  3272. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see gefs+, 604233)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see gefs+, 604233) | rel=r_associated | relid=0 | w=30
  3273. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | rel=r_associated | relid=0 | w=30
  3274. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see rieg2, 601499)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see rieg2, 601499) | rel=r_associated | relid=0 | w=30
  3275. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity, see spg5a (270800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see spg5a (270800) | rel=r_associated | relid=0 | w=30
  3276. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:gestational age:time:pt:^fetus:qn:amniocentesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gestational age:time:pt:^fetus:qn:amniocentesis | rel=r_associated | relid=0 | w=30
  3277. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | rel=r_associated | relid=0 | w=30
  3278. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:good response to fibrinolytic inhibitors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to fibrinolytic inhibitors | rel=r_associated | relid=0 | w=30
  3279. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:group b, found in france and united kingdom, severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:group b, found in france and united kingdom, severe phenotype | rel=r_associated | relid=0 | w=30
  3280. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:hair tends to straighten by 2nd-3rd decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hair tends to straighten by 2nd-3rd decade | rel=r_associated | relid=0 | w=30
  3281. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:haploinsufficiency of rps14 (130620)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:haploinsufficiency of rps14 (130620) | rel=r_associated | relid=0 | w=30
  3282. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:hematuria may become apparent after respiratory infections (synpharyngitic)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hematuria may become apparent after respiratory infections (synpharyngitic) | rel=r_associated | relid=0 | w=30
  3283. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:hemolysis may be exercise-induced
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hemolysis may be exercise-induced | rel=r_associated | relid=0 | w=30
  3284. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygotes are not affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=30
  3285. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygotes are usually asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes are usually asymptomatic | rel=r_associated | relid=0 | w=30
  3286. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygotes exhibit blue sclerae and soft velvety skin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes exhibit blue sclerae and soft velvety skin | rel=r_associated | relid=0 | w=30
  3287. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3288. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygous females may exhibit variable degrees of enzyme deficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=30
  3289. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygous females may have situs inversus or other midline defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=30
  3290. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=30
  3291. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | rel=r_associated | relid=0 | w=30
  3292. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:high frequency in japan (2 in 20,000, 0.1%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in japan (2 in 20,000, 0.1%) | rel=r_associated | relid=0 | w=30
  3293. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:high frequency of absence seizures (several per day)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=30
  3294. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:high frequency of levodopa-induced dyskinesias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=30
  3295. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3296. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:highly variable frequency and duration of episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=30
  3297. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype and age of onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype and age of onset | rel=r_associated | relid=0 | w=30
  3298. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=30
  3299. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=30
  3300. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:hip joint replacement often necessary
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=30
  3301. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:homozygotes have earlier onset and a more severe disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homozygotes have earlier onset and a more severe disorder | rel=r_associated | relid=0 | w=30
  3302. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:homozygotes have more severe disease with earlier onset of thrombosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=30
  3303. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:hypogonadism reported in a large swedish kindred
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypogonadism reported in a large swedish kindred | rel=r_associated | relid=0 | w=30
  3304. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:inborn error of the pyrimidine degradation pathway
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:inborn error of the pyrimidine degradation pathway | rel=r_associated | relid=0 | w=30
  3305. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incidence 1 in 15,000-28,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=30
  3306. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 100,000 to 125,000 at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=30
  3307. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 150,000 live births in the general population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 150,000 live births in the general population | rel=r_associated | relid=0 | w=30
  3308. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  3309. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 320,000 births among non-jewish persons
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 320,000 births among non-jewish persons | rel=r_associated | relid=0 | w=30
  3310. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incidence ranges from 1 in 40,000 to 1 in 350,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=30
  3311. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=30
  3312. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incomplete penetance of some features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetance of some features | rel=r_associated | relid=0 | w=30
  3313. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance (about 80%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance (about 80%) | rel=r_associated | relid=0 | w=30
  3314. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance of optic atrophy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=30
  3315. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance, some individuals have only emg changes without other clinical signs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | rel=r_associated | relid=0 | w=30
  3316. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | rel=r_associated | relid=0 | w=30
  3317. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:increased frequency in the finnish population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in the finnish population | rel=r_associated | relid=0 | w=30
  3318. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | rel=r_associated | relid=0 | w=30
  3319. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:increased male-to-female ratio (3-4 to 1)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased male-to-female ratio (3-4 to 1) | rel=r_associated | relid=0 | w=30
  3320. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:increased prevalence in northern finland (7.3/100,000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence in northern finland (7.3/100,000) | rel=r_associated | relid=0 | w=30
  3321. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:increased rate of miscarriage in affected individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased rate of miscarriage in affected individuals | rel=r_associated | relid=0 | w=30
  3322. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:increased risk of bilateral breast cancer
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of bilateral breast cancer | rel=r_associated | relid=0 | w=30
  3323. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:independent ambulation is maintained
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=30
  3324. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:individuals with the pcs trait are phenotypically normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:individuals with the pcs trait are phenotypically normal | rel=r_associated | relid=0 | w=30
  3325. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:infants may have acute life-threatening crises
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=30
  3326. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | rel=r_associated | relid=0 | w=30
  3327. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:insidious onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:insidious onset | rel=r_associated | relid=0 | w=30
  3328. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3329. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:interfamilial and intrafamilial clinical heterogeneity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=30
  3330. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:internal organ rupture may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=30
  3331. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:intrafamilial variability in nail changes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variability in nail changes | rel=r_associated | relid=0 | w=30
  3332. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:intrafamilial variability in number of missing teeth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=30
  3333. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:involuntary and nonvolitional phenomenon
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:involuntary and nonvolitional phenomenon | rel=r_associated | relid=0 | w=30
  3334. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:isolated cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:isolated cases | rel=r_associated | relid=0 | w=30
  3335. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:isolated finding
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:isolated finding | rel=r_associated | relid=0 | w=30
  3336. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | rel=r_associated | relid=0 | w=30
  3337. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:laboratory findings are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:laboratory findings are variable | rel=r_associated | relid=0 | w=30
  3338. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:late adult onset (after age 55 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=30
  3339. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:later onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=30
  3340. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:later onset is associated with slower progression and lesser severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset is associated with slower progression and lesser severity | rel=r_associated | relid=0 | w=30
  3341. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:later onset of hearing loss in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset of hearing loss in some patients | rel=r_associated | relid=0 | w=30
  3342. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:leakage of fluid ('gusher') if the stapes is disturbed
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:leakage of fluid ('gusher') if the stapes is disturbed | rel=r_associated | relid=0 | w=30
  3343. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:levodopa-induced dyskinesias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=30
  3344. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:levodopa-responsive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:levodopa-responsive | rel=r_associated | relid=0 | w=30
  3345. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:lower limb weakness is presenting feature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=30
  3346. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:major cause of death is heart failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=30
  3347. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:majority of cases have bilateral involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases have bilateral involvement | rel=r_associated | relid=0 | w=30
  3348. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:majority of cases in japan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases in japan | rel=r_associated | relid=0 | w=30
  3349. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:majority of patients have normal intelligence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=30
  3350. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:male patients have more severe disease than female patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male patients have more severe disease than female patients | rel=r_associated | relid=0 | w=30
  3351. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:male-to-female ratio, 1.8 to 1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=30
  3352. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:males died in neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males died in neonatal period | rel=r_associated | relid=0 | w=30
  3353. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:many adults with typical form remain ambulatory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=30
  3354. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> 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:two unrelated families have been reported (last curated february 2016) | 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=30
  3355. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:marked intrafamilial and interfamilial variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=30
  3356. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:may coexist with autoimmune vitiligo or thyroiditis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may coexist with autoimmune vitiligo or thyroiditis | rel=r_associated | relid=0 | w=30
  3357. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:may progress to upper limbs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may progress to upper limbs | rel=r_associated | relid=0 | w=30
  3358. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 10.6 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=30
  3359. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 22 years (range 7 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=30
  3360. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 27 years (range 9 to 42)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 27 years (range 9 to 42) | rel=r_associated | relid=0 | w=30
  3361. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 30.7 years (range 6 to 60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 30.7 years (range 6 to 60 years) | rel=r_associated | relid=0 | w=30
  3362. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age at onset is 10.4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset is 10.4 years | rel=r_associated | relid=0 | w=30
  3363. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age at onset of bone disease is 40 years (range 23-65)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset of bone disease is 40 years (range 23-65) | rel=r_associated | relid=0 | w=30
  3364. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age at onset of cerebellar ataxia is 52.8 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=30
  3365. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age of diagnosis 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=30
  3366. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age of onset 16 to 19 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=30
  3367. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mean age of onset 56 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 56 years | rel=r_associated | relid=0 | w=30
  3368. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:medial onset of end stage renal disease 13 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=30
  3369. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:median age of diagnosis - 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age of diagnosis - 15 years | rel=r_associated | relid=0 | w=30
  3370. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:median survival 5.7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=30
  3371. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:median survival is > 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=30
  3372. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:medullary thyroid cancer is aggressive and can occur in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=30
  3373. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:midline defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:midline defects | rel=r_associated | relid=0 | w=30
  3374. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mildly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mildly progressive | rel=r_associated | relid=0 | w=30
  3375. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:more severe in males than in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more severe in males than in females | rel=r_associated | relid=0 | w=30
  3376. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:most cases result from a de novo mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases result from a de novo mutation | rel=r_associated | relid=0 | w=30
  3377. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:most common terminal deletion syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common terminal deletion syndrome | rel=r_associated | relid=0 | w=30
  3378. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:most patients become wheelchair-bound after 20 to 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become wheelchair-bound after 20 to 30 years | rel=r_associated | relid=0 | w=30
  3379. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | rel=r_associated | relid=0 | w=30
  3380. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:most patients lose ambulation 2 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients lose ambulation 2 years after onset | rel=r_associated | relid=0 | w=30
  3381. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:most patients require liver transplantation within the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients require liver transplantation within the first year of life | rel=r_associated | relid=0 | w=30
  3382. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:most patients require renal transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients require renal transplantation | rel=r_associated | relid=0 | w=30
  3383. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | rel=r_associated | relid=0 | w=30
  3384. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | rel=r_associated | relid=0 | w=30
  3385. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3386. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:mutations have been identified in spanish families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutations have been identified in spanish families | rel=r_associated | relid=0 | w=30
  3387. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | rel=r_associated | relid=0 | w=30
  3388. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:myoclonic seizures occur on awakening or within 2 hours of awakening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:myoclonic seizures occur on awakening or within 2 hours of awakening | rel=r_associated | relid=0 | w=30
  3389. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | rel=r_associated | relid=0 | w=30
  3390. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:nail changes may be intermittent in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nail changes may be intermittent in some patients | rel=r_associated | relid=0 | w=30
  3391. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:nails may be intermittently involved
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nails may be intermittently involved | rel=r_associated | relid=0 | w=30
  3392. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:nearly 100% penetrance by 60 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nearly 100% penetrance by 60 years of age | rel=r_associated | relid=0 | w=30
  3393. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:neurologic features are variable and not progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic features are variable and not progressive | rel=r_associated | relid=0 | w=30
  3394. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:neurologic signs may not be present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic signs may not be present | rel=r_associated | relid=0 | w=30
  3395. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:no increased fragility of hair
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no increased fragility of hair | rel=r_associated | relid=0 | w=30
  3396. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:no opportunistic infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no opportunistic infections | rel=r_associated | relid=0 | w=30
  3397. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:no predisposition to skin tumor development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no predisposition to skin tumor development | rel=r_associated | relid=0 | w=30
  3398. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:no recurrence of nephrotic syndrome after transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no recurrence of nephrotic syndrome after transplantation | rel=r_associated | relid=0 | w=30
  3399. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:no skeletal abnormalities in odontohypophosphatasia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no skeletal abnormalities in odontohypophosphatasia | rel=r_associated | relid=0 | w=30
  3400. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:non-progressive or very slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:non-progressive or very slowly progressive | rel=r_associated | relid=0 | w=30
  3401. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:normal alleles have 4 to 18 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal alleles have 4 to 18 repeats | rel=r_associated | relid=0 | w=30
  3402. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | rel=r_associated | relid=0 | w=30
  3403. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:normal female secondary sexual characteristics
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal female secondary sexual characteristics | rel=r_associated | relid=0 | w=30
  3404. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:normal intelligence in majority
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal intelligence in majority | rel=r_associated | relid=0 | w=30
  3405. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:not all patients have all features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not all patients have all features | rel=r_associated | relid=0 | w=30
  3406. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:not all patients have skeletal muscle symptoms or mental retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not all patients have skeletal muscle symptoms or mental retardation | rel=r_associated | relid=0 | w=30
  3407. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:not responsive to biotin treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not responsive to biotin treatment | rel=r_associated | relid=0 | w=30
  3408. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:noted in early childhood in most patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:noted in early childhood in most patients | rel=r_associated | relid=0 | w=30
  3409. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:occurs in women and is triggered by pregnancy or estrogen therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in women and is triggered by pregnancy or estrogen therapy | rel=r_associated | relid=0 | w=30
  3410. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:often associated with syringomyelia (186700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often associated with syringomyelia (186700) | rel=r_associated | relid=0 | w=30
  3411. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:often confused with tuberous sclerosis (191000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often confused with tuberous sclerosis (191000) | rel=r_associated | relid=0 | w=30
  3412. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:often presents with cranial or cervical involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often presents with cranial or cervical involvement | rel=r_associated | relid=0 | w=30
  3413. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one 3-generation danish family reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 3-generation danish family reported (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3414. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | rel=r_associated | relid=0 | w=30
  3415. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one brazilian family with 12 affected individuals reported (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | rel=r_associated | relid=0 | w=30
  3416. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one compound heterozygous patient reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one compound heterozygous patient reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3417. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one consanguineous algerian family has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous algerian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3418. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one consanguineous costa rican family has been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous costa rican family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3419. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one consanguineous pakistani family has been reported (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3420. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one consanguineous turkish family has been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous turkish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=30
  3421. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family and 1 unrelated patient have been reported (last curated july 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family and 1 unrelated patient have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=30
  3422. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family and an unrelated patient have been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family and an unrelated patient have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=30
  3423. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (as of september 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=30
  3424. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated january 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=30
  3425. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=30
  3426. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family of irish traveller descent described (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of irish traveller descent described (last curated september 2013) | rel=r_associated | relid=0 | w=30
  3427. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family reported (last curated november 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (last curated november 2011) | rel=r_associated | relid=0 | w=30
  3428. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3429. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3430. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one italian family has been described (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3431. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one large 4-generation uruguayan family reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large 4-generation uruguayan family reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3432. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one large consanguineous arab muslim family has been reported (as of september 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large consanguineous arab muslim family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=30
  3433. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=30
  3434. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one large italian kindred has been reported (last curated november 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large italian kindred has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=30
  3435. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | rel=r_associated | relid=0 | w=30
  3436. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> 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:two unrelated families have been reported (last curated february 2016) | 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=30
  3437. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (as of april 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of april 2011) | rel=r_associated | relid=0 | w=30
  3438. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (as of may 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of may 2011) | rel=r_associated | relid=0 | w=30
  3439. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=30
  3440. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one patient studied at molecular level (as of july 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient studied at molecular level (as of july 2011) | rel=r_associated | relid=0 | w=30
  3441. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=30
  3442. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one report of mother and son (last curated august 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one report of mother and son (last curated august 2012) | rel=r_associated | relid=0 | w=30
  3443. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one spanish family has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one spanish family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3444. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:one third of patients represent new mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one third of patients represent new mutations | rel=r_associated | relid=0 | w=30
  3445. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:only 13% develop hypertension at 18 years of age or less
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only 13% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=30
  3446. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset <30 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset <30 months | rel=r_associated | relid=0 | w=30
  3447. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset 1-12 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 1-12 years | rel=r_associated | relid=0 | w=30
  3448. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset 30-40 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 30-40 years of age | rel=r_associated | relid=0 | w=30
  3449. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset after third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset after third decade | rel=r_associated | relid=0 | w=30
  3450. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset at age 10 to 14 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at age 10 to 14 years | rel=r_associated | relid=0 | w=30
  3451. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset at age 36 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at age 36 years | rel=r_associated | relid=0 | w=30
  3452. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset at age 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at age 5 years | rel=r_associated | relid=0 | w=30
  3453. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before age 2 years | rel=r_associated | relid=0 | w=30
  3454. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset between 2 and 4 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 2 and 4 years of age | rel=r_associated | relid=0 | w=30
  3455. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset between age 30-50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between age 30-50 years | rel=r_associated | relid=0 | w=30
  3456. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset between ages 5 and 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between ages 5 and 15 years | rel=r_associated | relid=0 | w=30
  3457. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset between second to sixth decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between second to sixth decades of life | rel=r_associated | relid=0 | w=30
  3458. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in adolescence or adulthood has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in adolescence or adulthood has been reported | rel=r_associated | relid=0 | w=30
  3459. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in adulthood (third to fourth decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in adulthood (third to fourth decade) | rel=r_associated | relid=0 | w=30
  3460. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in childhood (mean age 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (mean age 10 years) | rel=r_associated | relid=0 | w=30
  3461. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in childhood (range 2 to 16 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range 2 to 16 years) | rel=r_associated | relid=0 | w=30
  3462. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | rel=r_associated | relid=0 | w=30
  3463. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in childhood with exacerbation during puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood with exacerbation during puberty | rel=r_associated | relid=0 | w=30
  3464. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in childhood, but most noticeable in mid-teens and early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood, but most noticeable in mid-teens and early adulthood | rel=r_associated | relid=0 | w=30
  3465. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in early childhood (2-4 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood (2-4 years) | rel=r_associated | relid=0 | w=30
  3466. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in early childhood (age 3)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood (age 3) | rel=r_associated | relid=0 | w=30
  3467. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in first hours to days of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first hours to days of life | rel=r_associated | relid=0 | w=30
  3468. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in first or second decade (range infancy to teenage years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first or second decade (range infancy to teenage years) | rel=r_associated | relid=0 | w=30
  3469. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in fourth to fifth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in fourth to fifth decade | rel=r_associated | relid=0 | w=30
  3470. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in infancy (average 4 months, but may be earlier)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy (average 4 months, but may be earlier) | rel=r_associated | relid=0 | w=30
  3471. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or childhood | rel=r_associated | relid=0 | w=30
  3472. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in infancy or first years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or first years of life | rel=r_associated | relid=0 | w=30
  3473. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in infancy or late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or late childhood | rel=r_associated | relid=0 | w=30
  3474. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in males in first to third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in males in first to third decade | rel=r_associated | relid=0 | w=30
  3475. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in second and third decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second and third decades of life | rel=r_associated | relid=0 | w=30
  3476. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in second decade or as young adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second decade or as young adult | rel=r_associated | relid=0 | w=30
  3477. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in third or fourth decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in third or fourth decades | rel=r_associated | relid=0 | w=30
  3478. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset in third to fifth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in third to fifth decade of life | rel=r_associated | relid=0 | w=30
  3479. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of acne in adolescence, persists into adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of acne in adolescence, persists into adulthood | rel=r_associated | relid=0 | w=30
  3480. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of ataxia in early childhood (range 15 months to 3 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of ataxia in early childhood (range 15 months to 3 years) | rel=r_associated | relid=0 | w=30
  3481. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of bleeding in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of bleeding in infancy or early childhood | rel=r_associated | relid=0 | w=30
  3482. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of cataracts in late adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of cataracts in late adolescence | rel=r_associated | relid=0 | w=30
  3483. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of choroideremia in second to third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of choroideremia in second to third decade | rel=r_associated | relid=0 | w=30
  3484. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of contractures in utero
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of contractures in utero | rel=r_associated | relid=0 | w=30
  3485. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of essential tremor between 16 and 44 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of essential tremor between 16 and 44 years | rel=r_associated | relid=0 | w=30
  3486. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of gait abnormalities at 8 to 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of gait abnormalities at 8 to 40 years | rel=r_associated | relid=0 | w=30
  3487. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of gaze palsy at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of gaze palsy at birth | rel=r_associated | relid=0 | w=30
  3488. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of hearing loss in first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in first decade of life | rel=r_associated | relid=0 | w=30
  3489. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of joint pain in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of joint pain in childhood | rel=r_associated | relid=0 | w=30
  3490. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of lesions may occur in early childhood or as late as the seventh decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of lesions may occur in early childhood or as late as the seventh decade | rel=r_associated | relid=0 | w=30
  3491. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of liver involvement in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of liver involvement in infancy | rel=r_associated | relid=0 | w=30
  3492. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of neurologic features is variable, even within the same family (range early childhood to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | rel=r_associated | relid=0 | w=30
  3493. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of neurologic symptoms often by 30 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of neurologic symptoms often by 30 months | rel=r_associated | relid=0 | w=30
  3494. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of optic atrophy in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of optic atrophy in first decade | rel=r_associated | relid=0 | w=30
  3495. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of optic neuropathy is usually in early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of optic neuropathy is usually in early adulthood | rel=r_associated | relid=0 | w=30
  3496. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of renal dysfunction in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of renal dysfunction in early childhood | rel=r_associated | relid=0 | w=30
  3497. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of seizures in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures in infancy | rel=r_associated | relid=0 | w=30
  3498. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms in second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in second decade of life | rel=r_associated | relid=0 | w=30
  3499. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms in second to fifth decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in second to fifth decades of life | rel=r_associated | relid=0 | w=30
  3500. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms less than one year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms less than one year | rel=r_associated | relid=0 | w=30
  3501. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset of visual loss in the first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of visual loss in the first decade | rel=r_associated | relid=0 | w=30
  3502. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset ranges from early childhood to adulthood (usually before age 15)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from early childhood to adulthood (usually before age 15) | rel=r_associated | relid=0 | w=30
  3503. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset usually associated with febrile illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually associated with febrile illness | rel=r_associated | relid=0 | w=30
  3504. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset usually between 30 and 50 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually between 30 and 50 years of age | rel=r_associated | relid=0 | w=30
  3505. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset usually in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in early childhood | rel=r_associated | relid=0 | w=30
  3506. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset usually in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in infancy or early childhood | rel=r_associated | relid=0 | w=30
  3507. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:onset usually in late infancy or childhood (1 to 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in late infancy or childhood (1 to 6 years) | rel=r_associated | relid=0 | w=30
  3508. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:overall prevalence is between 0.5 and 14 per 100,000 people per year
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | rel=r_associated | relid=0 | w=30
  3509. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:pain most commonly affects the trunk, extremities, pelvic region, buttocks
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | rel=r_associated | relid=0 | w=30
  3510. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:pathogenic alleles contain greater than 41 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pathogenic alleles contain greater than 41 repeats | rel=r_associated | relid=0 | w=30
  3511. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients are severely disabled as adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are severely disabled as adults | rel=r_associated | relid=0 | w=30
  3512. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients are susceptible to sepsis and dehydration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are susceptible to sepsis and dehydration | rel=r_associated | relid=0 | w=30
  3513. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3514. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients may be asymptomatic, but are at risk for metabolic decompensation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may be asymptomatic, but are at risk for metabolic decompensation | rel=r_associated | relid=0 | w=30
  3515. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients often require cardiac transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients often require cardiac transplantation | rel=r_associated | relid=0 | w=30
  3516. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients who acquire ability to walk may lose it
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients who acquire ability to walk may lose it | rel=r_associated | relid=0 | w=30
  3517. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | rel=r_associated | relid=0 | w=30
  3518. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | rel=r_associated | relid=0 | w=30
  3519. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with homozygous mutations have a more severe disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with homozygous mutations have a more severe disorder | rel=r_associated | relid=0 | w=30
  3520. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=30
  3521. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with meb may acquire ability to walk and a few words
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with meb may acquire ability to walk and a few words | rel=r_associated | relid=0 | w=30
  3522. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with medication-resistant hypertension require bilateral adrenalectomy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with medication-resistant hypertension require bilateral adrenalectomy | rel=r_associated | relid=0 | w=30
  3523. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with null mutations have neonatal onset within 72 hours of birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with null mutations have neonatal onset within 72 hours of birth | rel=r_associated | relid=0 | w=30
  3524. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> 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:two unrelated families have been reported (last curated february 2016) | 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=30
  3525. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with recessive mutations have a more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with recessive mutations have a more severe phenotype | rel=r_associated | relid=0 | w=30
  3526. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:patients with residual enzyme activity have childhood or adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with residual enzyme activity have childhood or adult onset | rel=r_associated | relid=0 | w=30
  3527. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:pavm more frequent in hht1 than hht2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pavm more frequent in hht1 than hht2 | rel=r_associated | relid=0 | w=30
  3528. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | rel=r_associated | relid=0 | w=30
  3529. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> 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:two unrelated families have been reported (last curated february 2016) | 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=30
  3530. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:phenotype is worsened by cold temperature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype is worsened by cold temperature | rel=r_associated | relid=0 | w=30
  3531. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:phenotypic similarities to angelman syndrome (105830)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic similarities to angelman syndrome (105830) | rel=r_associated | relid=0 | w=30
  3532. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:phenotypic variability within families and among patients carrying the same mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic variability within families and among patients carrying the same mutation | rel=r_associated | relid=0 | w=30
  3533. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:phenotypically indistinguishable from hemophilia a (306700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypically indistinguishable from hemophilia a (306700) | rel=r_associated | relid=0 | w=30
  3534. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:physical features are apparent at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:physical features are apparent at birth | rel=r_associated | relid=0 | w=30
  3535. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | rel=r_associated | relid=0 | w=30
  3536. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | rel=r_associated | relid=0 | w=30
  3537. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:possible genetic heterogeneity (linkage to xp22 in some families)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible genetic heterogeneity (linkage to xp22 in some families) | rel=r_associated | relid=0 | w=30
  3538. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:premature aging syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:premature aging syndrome | rel=r_associated | relid=0 | w=30
  3539. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:premature death may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:premature death may occur | rel=r_associated | relid=0 | w=30
  3540. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prenatal or neonatal onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal or neonatal onset | rel=r_associated | relid=0 | w=30
  3541. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  3542. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prevalence approximately 1 in 4,000 males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence approximately 1 in 4,000 males | rel=r_associated | relid=0 | w=30
  3543. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prevalence estimated at 1 in 50,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence estimated at 1 in 50,000 | rel=r_associated | relid=0 | w=30
  3544. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prevalence in poland is 1 in 129,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in poland is 1 in 129,000 | rel=r_associated | relid=0 | w=30
  3545. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prevalence is estimated to be 1 in 150,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence is estimated to be 1 in 150,000 | rel=r_associated | relid=0 | w=30
  3546. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prevalence of 0.6 to 10 per 100,000 individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 0.6 to 10 per 100,000 individuals | rel=r_associated | relid=0 | w=30
  3547. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prevalent in north africa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in north africa | rel=r_associated | relid=0 | w=30
  3548. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:prevalent in sweden
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in sweden | rel=r_associated | relid=0 | w=30
  3549. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:progresses through puberty, then stabilizes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progresses through puberty, then stabilizes | rel=r_associated | relid=0 | w=30
  3550. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:protracted disease course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:protracted disease course | rel=r_associated | relid=0 | w=30
  3551. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:pseudomembrane formation triggered by injury, infection, irritation, surgery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | rel=r_associated | relid=0 | w=30
  3552. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:pyogenic arthritis, pyoderma gangrenosum and acne
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pyogenic arthritis, pyoderma gangrenosum and acne | rel=r_associated | relid=0 | w=30
  3553. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:rapid progression to disability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapid progression to disability | rel=r_associated | relid=0 | w=30
  3554. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:rarely produces clinical jaundice
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rarely produces clinical jaundice | rel=r_associated | relid=0 | w=30
  3555. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:recurrence is possible
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrence is possible | rel=r_associated | relid=0 | w=30
  3556. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:reduced exercise tolerance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced exercise tolerance | rel=r_associated | relid=0 | w=30
  3557. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:reduced fertility
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced fertility | rel=r_associated | relid=0 | w=30
  3558. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:reduced fetal movement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced fetal movement | rel=r_associated | relid=0 | w=30
  3559. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:reduced penetrance (89%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance (89%) | rel=r_associated | relid=0 | w=30
  3560. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:reduced penetrance has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance has been reported | rel=r_associated | relid=0 | w=30
  3561. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:renal anomalies are not always present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:renal anomalies are not always present | rel=r_associated | relid=0 | w=30
  3562. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:reported cases all sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported cases all sporadic | rel=r_associated | relid=0 | w=30
  3563. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:response to zinc supplementation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:response to zinc supplementation | rel=r_associated | relid=0 | w=30
  3564. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:rickets and premature primary tooth loss occur in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rickets and premature primary tooth loss occur in childhood | rel=r_associated | relid=0 | w=30
  3565. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:right side affected greater than left side
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:right side affected greater than left side | rel=r_associated | relid=0 | w=30
  3566. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:sando (607459) is a phenotypic variant of autosomal recessive peo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sando (607459) is a phenotypic variant of autosomal recessive peo | rel=r_associated | relid=0 | w=30
  3567. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3568. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:secondary hemorrhage
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:secondary hemorrhage | rel=r_associated | relid=0 | w=30
  3569. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:see (277600) for a phenotypically similar autosomal recessive form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see (277600) for a phenotypically similar autosomal recessive form | rel=r_associated | relid=0 | w=30
  3570. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:see also autosomal recessive form (612304)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal recessive form (612304) | rel=r_associated | relid=0 | w=30
  3571. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:see also autosomal recessive sick sinus syndrome (sss1, 608567)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | rel=r_associated | relid=0 | w=30
  3572. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:see also pgl1 (168000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pgl1 (168000) | rel=r_associated | relid=0 | w=30
  3573. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | rel=r_associated | relid=0 | w=30
  3574. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:see also x-linked dominant form (300652)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also x-linked dominant form (300652) | rel=r_associated | relid=0 | w=30
  3575. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:seen more frequently in infants of diabetic mothers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seen more frequently in infants of diabetic mothers | rel=r_associated | relid=0 | w=30
  3576. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:seizure onset after 3 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizure onset after 3 months | rel=r_associated | relid=0 | w=30
  3577. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:seizure onset in first months or years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizure onset in first months or years of life | rel=r_associated | relid=0 | w=30
  3578. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:seizures become nearly continuous
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures become nearly continuous | rel=r_associated | relid=0 | w=30
  3579. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:seizures, recurrent, refractory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures, recurrent, refractory | rel=r_associated | relid=0 | w=30
  3580. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3581. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3582. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30
  3583. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:severe ambulatory restriction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe ambulatory restriction | rel=r_associated | relid=0 | w=30
  3584. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:severe epilepsy may lead to early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe epilepsy may lead to early death | rel=r_associated | relid=0 | w=30
  3585. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:severe infections in untreated patients with neutropenia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe infections in untreated patients with neutropenia | rel=r_associated | relid=0 | w=30
  3586. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:severe volume depletion
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe volume depletion | rel=r_associated | relid=0 | w=30
  3587. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:severity of phenotype may vary with x-inactivation patterns and/or mutation type
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | rel=r_associated | relid=0 | w=30
  3588. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:sexual infantilism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sexual infantilism | rel=r_associated | relid=0 | w=30
  3589. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:similar to infantile neuroaxonal dystrophy (inad, 256600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | rel=r_associated | relid=0 | w=30
  3590. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:skeletal and endocrine features have not been fully characterized in all of the patients reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | rel=r_associated | relid=0 | w=30
  3591. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:skin lesions exacerbated by heat, exercise (sweating), and sunlight
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | rel=r_associated | relid=0 | w=30
  3592. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:skin manifestation less frequently observed in cold climates
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin manifestation less frequently observed in cold climates | rel=r_associated | relid=0 | w=30
  3593. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:slow course of functional deterioration compared to severity of mri findings
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slow course of functional deterioration compared to severity of mri findings | rel=r_associated | relid=0 | w=30
  3594. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some carrier females have episodes of significant hyperammonemia in infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | rel=r_associated | relid=0 | w=30
  3595. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some female patients can conceive after administration of gonadotropins
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some female patients can conceive after administration of gonadotropins | rel=r_associated | relid=0 | w=30
  3596. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some laboratory abnormalities may fluctuate or improve with time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some laboratory abnormalities may fluctuate or improve with time | rel=r_associated | relid=0 | w=30
  3597. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients are asymptomatic and diagnosed incidentally
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients are asymptomatic and diagnosed incidentally | rel=r_associated | relid=0 | w=30
  3598. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients become wheelchair-bound | rel=r_associated | relid=0 | w=30
  3599. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | rel=r_associated | relid=0 | w=30
  3600. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients do not show neurologic abnormalities or dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not show neurologic abnormalities or dysmorphic features | rel=r_associated | relid=0 | w=30
  3601. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients have no neurologic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have no neurologic abnormalities | rel=r_associated | relid=0 | w=30
  3602. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may die from cardiomyopathy in the first or second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may die from cardiomyopathy in the first or second decade of life | rel=r_associated | relid=0 | w=30
  3603. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may have isolated myokymia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have isolated myokymia | rel=r_associated | relid=0 | w=30
  3604. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may have normal brain imaging
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have normal brain imaging | rel=r_associated | relid=0 | w=30
  3605. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may live to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may live to adulthood | rel=r_associated | relid=0 | w=30
  3606. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may not present until adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may not present until adulthood | rel=r_associated | relid=0 | w=30
  3607. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may present with adult-onset small fiber neuropathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may present with adult-onset small fiber neuropathy | rel=r_associated | relid=0 | w=30
  3608. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | rel=r_associated | relid=0 | w=30
  3609. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may show neurologic improvement late in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may show neurologic improvement late in life | rel=r_associated | relid=0 | w=30
  3610. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:some patients may show normal early development before seizure onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=30
  3611. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:spectrum of laterality defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spectrum of laterality defects | rel=r_associated | relid=0 | w=30
  3612. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:static, nonprogressive disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:static, nonprogressive disorder | rel=r_associated | relid=0 | w=30
  3613. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:stillborn or death shortly after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stillborn or death shortly after birth | rel=r_associated | relid=0 | w=30
  3614. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:sudden death in affected males occurs in teens
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death in affected males occurs in teens | rel=r_associated | relid=0 | w=30
  3615. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:survival to 10 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival to 10 years | rel=r_associated | relid=0 | w=30
  3616. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:susceptibility to infections starts in the first week of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:susceptibility to infections starts in the first week of life | rel=r_associated | relid=0 | w=30
  3617. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:symptoms appear in early childhood and are progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms appear in early childhood and are progressive | rel=r_associated | relid=0 | w=30
  3618. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:symptoms improve with age, resulting in woolly hair with almost normal hair density
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | rel=r_associated | relid=0 | w=30
  3619. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:symptoms precipitated by exercise and excitement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by exercise and excitement | rel=r_associated | relid=0 | w=30
  3620. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:symptoms relieved by ovarian suppression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms relieved by ovarian suppression | rel=r_associated | relid=0 | w=30
  3621. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:symptoms show insidious onset in the late first through third decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms show insidious onset in the late first through third decades | rel=r_associated | relid=0 | w=30
  3622. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:symptoms tend to improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms tend to improve with age | rel=r_associated | relid=0 | w=30
  3623. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:symptoms vary according to location of tumor
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms vary according to location of tumor | rel=r_associated | relid=0 | w=30
  3624. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:systemic iron overload due to ineffective erythropoiesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:systemic iron overload due to ineffective erythropoiesis | rel=r_associated | relid=0 | w=30
  3625. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:the lower the s-ado:saicar ratio, the more severe the phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the lower the s-ado:saicar ratio, the more severe the phenotype | rel=r_associated | relid=0 | w=30
  3626. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three amish patients have been reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three amish patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=30
  3627. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three males in 1 family have been reported (last curated august 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three males in 1 family have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=30
  3628. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three patients from 2 families have been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients from 2 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=30
  3629. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three patients from 2 unrelated families have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients from 2 unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=30
  3630. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three times more common in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three times more common in males | rel=r_associated | relid=0 | w=30
  3631. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three types of cystinosis are recognized
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three types of cystinosis are recognized | rel=r_associated | relid=0 | w=30
  3632. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three unrelated patients have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=30
  3633. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three unrelated patients have been reported (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=30
  3634. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:three unrelated probands have been reported (last curated january 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated probands have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=30
  3635. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | rel=r_associated | relid=0 | w=30
  3636. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:tumor suppressor genes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tumor suppressor genes | rel=r_associated | relid=0 | w=30
  3637. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:tumors are microsatellite stable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tumors are microsatellite stable | rel=r_associated | relid=0 | w=30
  3638. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:twelve or more lesions per eye in individuals over 60 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:twelve or more lesions per eye in individuals over 60 years of age | rel=r_associated | relid=0 | w=30
  3639. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two consanguineous pakistan families have been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two consanguineous pakistan families have been described | rel=r_associated | relid=0 | w=30
  3640. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two families each with two affected children have been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families each with two affected children have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=30
  3641. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two japanese patients have been reported (last curated march 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two japanese patients have been reported (last curated march 2013) | rel=r_associated | relid=0 | w=30
  3642. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two patients with point mutations in rad21 have been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=30
  3643. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two related patients have been reported (as of november 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two related patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=30
  3644. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two sibs have been reported (last curated may 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=30
  3645. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=30
  3646. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  3647. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated chinese families have been reported (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated chinese families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=30
  3648. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated consanguineous families have been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated consanguineous families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=30
  3649. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=30
  3650. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3651. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated japanese patients have been reported (last curated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated japanese patients have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=30
  3652. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated men have been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated men have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=30
  3653. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients had multiple congenital anomalies and died in early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients had multiple congenital anomalies and died in early infancy | rel=r_associated | relid=0 | w=30
  3654. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (as of january 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=30
  3655. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=30
  3656. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated december 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=30
  3657. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3658. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | rel=r_associated | relid=0 | w=30
  3659. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=30
  3660. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:type i has most severe manifestations by age 4-5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type i has most severe manifestations by age 4-5 years | rel=r_associated | relid=0 | w=30
  3661. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:type i is infantile-onset, severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type i is infantile-onset, severe | rel=r_associated | relid=0 | w=30
  3662. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=30
  3663. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:upper urinary tract usually normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:upper urinary tract usually normal | rel=r_associated | relid=0 | w=30
  3664. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:usually affects children
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually affects children | rel=r_associated | relid=0 | w=30
  3665. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range childhood to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range childhood to adult) | rel=r_associated | relid=0 | w=30
  3666. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range infancy to adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range infancy to adulthood) | rel=r_associated | relid=0 | w=30
  3667. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable age at onset from childhood to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset from childhood to adulthood | rel=r_associated | relid=0 | w=30
  3668. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable duration (minutes to hours)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable duration (minutes to hours) | rel=r_associated | relid=0 | w=30
  3669. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable dysmorphic features | rel=r_associated | relid=0 | w=30
  3670. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable onset, from infancy to young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable onset, from infancy to young adulthood | rel=r_associated | relid=0 | w=30
  3671. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable presentation of clinical features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable presentation of clinical features | rel=r_associated | relid=0 | w=30
  3672. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable severity between patients and between eyes (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity between patients and between eyes (in some patients) | rel=r_associated | relid=0 | w=30
  3673. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:variable severity, even within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity, even within families | rel=r_associated | relid=0 | w=30
  3674. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:vhl type 2a - hemangioblastoma and pheochromocytoma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:vhl type 2a - hemangioblastoma and pheochromocytoma | rel=r_associated | relid=0 | w=30
  3675. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:visual acuity better than anticipated from ophthalmoscopic appearance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visual acuity better than anticipated from ophthalmoscopic appearance | rel=r_associated | relid=0 | w=30
  3676. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | rel=r_associated | relid=0 | w=30
  3677. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:wheelchair-bound average 12 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wheelchair-bound average 12 years after onset | rel=r_associated | relid=0 | w=30
  3678. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:wide phenotypic variation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide phenotypic variation | rel=r_associated | relid=0 | w=30
  3679. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:worldwide frequency of 1 in 2,000,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:worldwide frequency of 1 in 2,000,000 | rel=r_associated | relid=0 | w=30
  3680. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:worsening of hand weakness with cold (in some)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:worsening of hand weakness with cold (in some) | rel=r_associated | relid=0 | w=30
  3681. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:worsening of symptoms during sleep
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:worsening of symptoms during sleep | rel=r_associated | relid=0 | w=30
  3682. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 30 / 0.698 -> en:young-adult onset (18-30 years) of sensory ataxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:young-adult onset (18-30 years) of sensory ataxia | rel=r_associated | relid=0 | w=30
  3683. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:'second wind' phenomenon
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:'second wind' phenomenon | rel=r_associated | relid=0 | w=29
  3684. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:(1) infantile nephropathic (219800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(1) infantile nephropathic (219800) | rel=r_associated | relid=0 | w=29
  3685. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:(3) intermediate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(3) intermediate | rel=r_associated | relid=0 | w=29
  3686. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:13% of cases secondary to familial translocation (often maternally derived)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:13% of cases secondary to familial translocation (often maternally derived) | rel=r_associated | relid=0 | w=29
  3687. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:21% of hereditary wilms tumor are bilateral
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:21% of hereditary wilms tumor are bilateral | rel=r_associated | relid=0 | w=29
  3688. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:23 patients from 2 kindreds reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:23 patients from 2 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=29
  3689. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:75% of affected individuals are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:75% of affected individuals are female | rel=r_associated | relid=0 | w=29
  3690. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:78% due to chromosome 14 maternal uniparental disomy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:78% due to chromosome 14 maternal uniparental disomy | rel=r_associated | relid=0 | w=29
  3691. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:a nonspecific marker of somatic mosaicism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a nonspecific marker of somatic mosaicism | rel=r_associated | relid=0 | w=29
  3692. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:a second family had mild intellectual disability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a second family had mild intellectual disability | rel=r_associated | relid=0 | w=29
  3693. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:a subset of patients improve with thiamine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subset of patients improve with thiamine | rel=r_associated | relid=0 | w=29
  3694. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:accounts for 5-15% of childhood epilepsies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accounts for 5-15% of childhood epilepsies | rel=r_associated | relid=0 | w=29
  3695. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:acral form of skin peeling limited to hands and feet (609796)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acral form of skin peeling limited to hands and feet (609796) | rel=r_associated | relid=0 | w=29
  3696. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:adult onset (20 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=29
  3697. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:adult onset (25-45 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (25-45 years) | rel=r_associated | relid=0 | w=29
  3698. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 14 to 70 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 14 to 70 years) | rel=r_associated | relid=0 | w=29
  3699. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 15 to 53 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 15 to 53 years) | rel=r_associated | relid=0 | w=29
  3700. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 28 to 55 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 28 to 55 years) | rel=r_associated | relid=0 | w=29
  3701. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 34 to 66 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 34 to 66 years) | rel=r_associated | relid=0 | w=29
  3702. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | rel=r_associated | relid=0 | w=29
  3703. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:affected individuals remain ambulatory in old age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals remain ambulatory in old age | rel=r_associated | relid=0 | w=29
  3704. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:affected infants die in neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected infants die in neonatal period | rel=r_associated | relid=0 | w=29
  3705. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:affected males are somatic mosaic for mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males are somatic mosaic for mutations | rel=r_associated | relid=0 | w=29
  3706. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:affected males have serotonin-related disorders such as migraine headaches and diabetes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | rel=r_associated | relid=0 | w=29
  3707. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:affects 1 in 250,000 to 1 million people worldwide
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affects 1 in 250,000 to 1 million people worldwide | rel=r_associated | relid=0 | w=29
  3708. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:affects up to 10% of women in their reproductive years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affects up to 10% of women in their reproductive years | rel=r_associated | relid=0 | w=29
  3709. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age at diagnosis 2-4 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at diagnosis 2-4 months | rel=r_associated | relid=0 | w=29
  3710. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age at diagnosis 9 +/- 6 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at diagnosis 9 +/- 6 years | rel=r_associated | relid=0 | w=29
  3711. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age at onset in females ranges from childhood to the fourth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset in females ranges from childhood to the fourth decade | rel=r_associated | relid=0 | w=29
  3712. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age at onset most often in childhood (first decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset most often in childhood (first decade) | rel=r_associated | relid=0 | w=29
  3713. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3714. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age of onset between 5 and 10 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=29
  3715. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age of onset between 6 and 45 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset between 6 and 45 years of age | rel=r_associated | relid=0 | w=29
  3716. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age of onset varies (7 to 28 years of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset varies (7 to 28 years of age) | rel=r_associated | relid=0 | w=29
  3717. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age:time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=29
  3718. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:age:time:pt:^patient:qn:calculated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age:time:pt:^patient:qn:calculated | rel=r_associated | relid=0 | w=29
  3719. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:aggressive malignancies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:aggressive malignancies | rel=r_associated | relid=0 | w=29
  3720. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:all affected individuals have been stillborn or died in the neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all affected individuals have been stillborn or died in the neonatal period | rel=r_associated | relid=0 | w=29
  3721. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:all cases are de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases are de novo | rel=r_associated | relid=0 | w=29
  3722. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:all cases occur in a jewish religious isolate originally from cochin, india
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases occur in a jewish religious isolate originally from cochin, india | rel=r_associated | relid=0 | w=29
  3723. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:all de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all de novo mutations | rel=r_associated | relid=0 | w=29
  3724. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> 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:two unrelated families have been reported (last curated february 2016) | 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=29
  3725. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder is long qt syndrome-3 (lqt3, 603830)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | rel=r_associated | relid=0 | w=29
  3726. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to cln8 (600143)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to cln8 (600143) | rel=r_associated | relid=0 | w=29
  3727. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3728. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | rel=r_associated | relid=0 | w=29
  3729. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | rel=r_associated | relid=0 | w=29
  3730. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | rel=r_associated | relid=0 | w=29
  3731. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | rel=r_associated | relid=0 | w=29
  3732. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | rel=r_associated | relid=0 | w=29
  3733. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to nf1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to nf1 | rel=r_associated | relid=0 | w=29
  3734. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to northern epilepsy (610003)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to northern epilepsy (610003) | rel=r_associated | relid=0 | w=29
  3735. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to primary erythermalgia (133020)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to primary erythermalgia (133020) | rel=r_associated | relid=0 | w=29
  3736. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to schindler disease (609241)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to schindler disease (609241) | rel=r_associated | relid=0 | w=29
  3737. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to stickler syndrome 3 (184840)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to stickler syndrome 3 (184840) | rel=r_associated | relid=0 | w=29
  3738. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3739. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to aicardi-goutieres syndrome (225750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to aicardi-goutieres syndrome (225750) | rel=r_associated | relid=0 | w=29
  3740. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to cowden disease (158350), which has a later age at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to cowden disease (158350), which has a later age at onset | rel=r_associated | relid=0 | w=29
  3741. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to dentin dysplasia, type 2 (125420)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to dentin dysplasia, type 2 (125420) | rel=r_associated | relid=0 | w=29
  3742. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3743. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to ellis-van creveld syndrome (225500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to ellis-van creveld syndrome (225500) | rel=r_associated | relid=0 | w=29
  3744. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  3745. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3746. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3747. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3748. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to rett syndrome (312750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to rett syndrome (312750) | rel=r_associated | relid=0 | w=29
  3749. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to robinow syndrome, autosomal recessive (268310)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to robinow syndrome, autosomal recessive (268310) | rel=r_associated | relid=0 | w=29
  3750. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | rel=r_associated | relid=0 | w=29
  3751. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | rel=r_associated | relid=0 | w=29
  3752. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:allelic to trp1 (190350)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to trp1 (190350) | rel=r_associated | relid=0 | w=29
  3753. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:almost all patients require total parenteral nutrition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:almost all patients require total parenteral nutrition | rel=r_associated | relid=0 | w=29
  3754. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=29
  3755. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:approximately 80% of cs patients have pten mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 80% of cs patients have pten mutations | rel=r_associated | relid=0 | w=29
  3756. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:arteriovenous malformations can occur throughout the body
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:arteriovenous malformations can occur throughout the body | rel=r_associated | relid=0 | w=29
  3757. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:associated with hemodialysis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=29
  3758. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:associated with the tau (157140) h1 haplotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with the tau (157140) h1 haplotype | rel=r_associated | relid=0 | w=29
  3759. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> 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:two unrelated families have been reported (last curated february 2016) | 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=29
  3760. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:asymptomatic skin lesions begin on neck in third decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:asymptomatic skin lesions begin on neck in third decade of life | rel=r_associated | relid=0 | w=29
  3761. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:ataxia becomes evident at the end of the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ataxia becomes evident at the end of the first year of life | rel=r_associated | relid=0 | w=29
  3762. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:attacks tend to decrease with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks tend to decrease with age | rel=r_associated | relid=0 | w=29
  3763. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:autosomal dominant inheritance has been reported in a single family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant inheritance has been reported in a single family | rel=r_associated | relid=0 | w=29
  3764. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance has been reported in 1 family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has been reported in 1 family | rel=r_associated | relid=0 | w=29
  3765. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:autosomal recessive omodysplasia has also been described (258315)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive omodysplasia has also been described (258315) | rel=r_associated | relid=0 | w=29
  3766. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:average age at onset 18.6 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset 18.6 years | rel=r_associated | relid=0 | w=29
  3767. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:average age at onset 66 years although earlier onset may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset 66 years although earlier onset may occur | rel=r_associated | relid=0 | w=29
  3768. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:average age of onset 13 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age of onset 13 years | rel=r_associated | relid=0 | w=29
  3769. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:average disease duration of 7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=29
  3770. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:average onset 6 months (range 3-9)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average onset 6 months (range 3-9) | rel=r_associated | relid=0 | w=29
  3771. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:basal cell neoplasms develop after second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:basal cell neoplasms develop after second decade | rel=r_associated | relid=0 | w=29
  3772. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=29
  3773. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:based on 1 4-generation chinese family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 4-generation chinese family | rel=r_associated | relid=0 | w=29
  3774. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:based on one consanguineous palestinian family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one consanguineous palestinian family (last curated august 2015) | rel=r_associated | relid=0 | w=29
  3775. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:based on report of 1 saudi arabian family (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 saudi arabian family (last curated february 2015) | rel=r_associated | relid=0 | w=29
  3776. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:based on report of 2 affected sisters (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 affected sisters (last curated march 2016) | rel=r_associated | relid=0 | w=29
  3777. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | rel=r_associated | relid=0 | w=29
  3778. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:based on report of 2 unrelated patients (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 unrelated patients (last curated february 2016) | rel=r_associated | relid=0 | w=29
  3779. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:based on report of one 5-generation family (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of one 5-generation family (last curated december 2015) | rel=r_associated | relid=0 | w=29
  3780. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:because fetal chrng (100730) exhibits phenotypic rescue
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:because fetal chrng (100730) exhibits phenotypic rescue | rel=r_associated | relid=0 | w=29
  3781. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:bilateral involvement in 10% of cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bilateral involvement in 10% of cases | rel=r_associated | relid=0 | w=29
  3782. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:bone changes tend to develop after first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bone changes tend to develop after first decade | rel=r_associated | relid=0 | w=29
  3783. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:bone fragility is not apparent at birth, but becomes evident within several months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bone fragility is not apparent at birth, but becomes evident within several months of life | rel=r_associated | relid=0 | w=29
  3784. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:both homozygous and heterozygous edn3 mutations have been found
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both homozygous and heterozygous edn3 mutations have been found | rel=r_associated | relid=0 | w=29
  3785. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:can be effectively treated with n-carbamylglutamate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can be effectively treated with n-carbamylglutamate | rel=r_associated | relid=0 | w=29
  3786. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> 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:two unrelated families have been reported (last curated february 2016) | 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=29
  3787. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:carrier females are unaffected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females are unaffected | rel=r_associated | relid=0 | w=29
  3788. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:carrier females may have mild features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females may have mild features | rel=r_associated | relid=0 | w=29
  3789. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:carrier males are unaffected except for psychiatric/behavioral abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | rel=r_associated | relid=0 | w=29
  3790. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | rel=r_associated | relid=0 | w=29
  3791. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:central apneic episodes may be fatal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:central apneic episodes may be fatal | rel=r_associated | relid=0 | w=29
  3792. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | rel=r_associated | relid=0 | w=29
  3793. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:children rarely develop the disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:children rarely develop the disorder | rel=r_associated | relid=0 | w=29
  3794. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:cholinesterase inhibitors may be beneficial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cholinesterase inhibitors may be beneficial | rel=r_associated | relid=0 | w=29
  3795. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | rel=r_associated | relid=0 | w=29
  3796. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:classical form (type i), less severe with survival into adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:classical form (type i), less severe with survival into adulthood | rel=r_associated | relid=0 | w=29
  3797. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> 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:two unrelated families have been reported (last curated february 2016) | 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=29
  3798. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:clinically classified into classic, atypical, and intermediate phenotypes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinically classified into classic, atypical, and intermediate phenotypes | rel=r_associated | relid=0 | w=29
  3799. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3800. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:coloboma is associated with larger microdeletion (490kb) of 11q13
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=29
  3801. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | rel=r_associated | relid=0 | w=29
  3802. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:complementation group c (variant mliii, 252605)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complementation group c (variant mliii, 252605) | rel=r_associated | relid=0 | w=29
  3803. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:complete penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complete penetrance | rel=r_associated | relid=0 | w=29
  3804. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:complete penetrance with variable expressivity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complete penetrance with variable expressivity | rel=r_associated | relid=0 | w=29
  3805. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:condition is experienced by patients as harmless and is often discovered incidentally
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:condition is experienced by patients as harmless and is often discovered incidentally | rel=r_associated | relid=0 | w=29
  3806. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:congenital disorders
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital disorders | rel=r_associated | relid=0 | w=29
  3807. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:congenital onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital onset | rel=r_associated | relid=0 | w=29
  3808. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:congenital reduction in visual acuity is nonprogressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital reduction in visual acuity is nonprogressive | rel=r_associated | relid=0 | w=29
  3809. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:considered to be a variant of gaucher disease type iii (231000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered to be a variant of gaucher disease type iii (231000) | rel=r_associated | relid=0 | w=29
  3810. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | rel=r_associated | relid=0 | w=29
  3811. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3812. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | rel=r_associated | relid=0 | w=29
  3813. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | rel=r_associated | relid=0 | w=29
  3814. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:date of autopsy:date:pt:^patient:qn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:date of autopsy:date:pt:^patient:qn | rel=r_associated | relid=0 | w=29
  3815. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:de novo mutations occur almost exclusively on the paternally derived x chromosome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | rel=r_associated | relid=0 | w=29
  3816. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death can occur in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death can occur in infancy | rel=r_associated | relid=0 | w=29
  3817. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death due to respiratory failure or infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death due to respiratory failure or infection | rel=r_associated | relid=0 | w=29
  3818. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death in early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in early infancy | rel=r_associated | relid=0 | w=29
  3819. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death in fourth to fifth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=29
  3820. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death in untreated children
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in untreated children | rel=r_associated | relid=0 | w=29
  3821. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death in utero or in early infancy is common
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in utero or in early infancy is common | rel=r_associated | relid=0 | w=29
  3822. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death in utero or in the perinatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in utero or in the perinatal period | rel=r_associated | relid=0 | w=29
  3823. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death occurs early in neonatal period due to respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death occurs early in neonatal period due to respiratory failure | rel=r_associated | relid=0 | w=29
  3824. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death often occurs in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=29
  3825. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death usually by 1 year of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually by 1 year of age | rel=r_associated | relid=0 | w=29
  3826. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death usually due to renal failure by average age 3
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually due to renal failure by average age 3 | rel=r_associated | relid=0 | w=29
  3827. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death usually in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in infancy | rel=r_associated | relid=0 | w=29
  3828. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death usually in newborn period or infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=29
  3829. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death usually in sixth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in sixth decade | rel=r_associated | relid=0 | w=29
  3830. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death usually occurs in first decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs in first decade of life | rel=r_associated | relid=0 | w=29
  3831. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death usually within first weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually within first weeks of life | rel=r_associated | relid=0 | w=29
  3832. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:death within first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within first year of life | rel=r_associated | relid=0 | w=29
  3833. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:decreased bilirubin concentration with phenobarbital administration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:decreased bilirubin concentration with phenobarbital administration | rel=r_associated | relid=0 | w=29
  3834. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | rel=r_associated | relid=0 | w=29
  3835. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:deletions occur de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deletions occur de novo | rel=r_associated | relid=0 | w=29
  3836. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:dermatitis resolves in offspring after zinc supplementation and/or weaning
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | rel=r_associated | relid=0 | w=29
  3837. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:described predominantly in families from the philippines
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described predominantly in families from the philippines | rel=r_associated | relid=0 | w=29
  3838. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:diagnosed in second or third decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=29
  3839. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | rel=r_associated | relid=0 | w=29
  3840. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:discordant phenotype among monozygotic twins has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=29
  3841. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:disease exacerbation during summer due to heat
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease exacerbation during summer due to heat | rel=r_associated | relid=0 | w=29
  3842. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | rel=r_associated | relid=0 | w=29
  3843. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:distinct disorder from familial limb-girdle myasthenia (254200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from familial limb-girdle myasthenia (254200) | rel=r_associated | relid=0 | w=29
  3844. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | rel=r_associated | relid=0 | w=29
  3845. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:dyskinesia may be precipitated by alcohol, stress, or fatigue
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | rel=r_associated | relid=0 | w=29
  3846. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:dysmorphic facial features are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic facial features are variable | rel=r_associated | relid=0 | w=29
  3847. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:dystonia occurs later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dystonia occurs later | rel=r_associated | relid=0 | w=29
  3848. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:earlier onset associated with increased severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earlier onset associated with increased severity | rel=r_associated | relid=0 | w=29
  3849. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:earliest age of onset 12 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earliest age of onset 12 years of age | rel=r_associated | relid=0 | w=29
  3850. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:earliest symptom onset in sixth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earliest symptom onset in sixth decade of life | rel=r_associated | relid=0 | w=29
  3851. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:early adult onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=29
  3852. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death | rel=r_associated | relid=0 | w=29
  3853. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:early death in some patients due to cardiorespiratory involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death in some patients due to cardiorespiratory involvement | rel=r_associated | relid=0 | w=29
  3854. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:early lethality
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early lethality | rel=r_associated | relid=0 | w=29
  3855. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | rel=r_associated | relid=0 | w=29
  3856. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:early-onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early-onset | rel=r_associated | relid=0 | w=29
  3857. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:early-onset associated with more severe course and early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early-onset associated with more severe course and early death | rel=r_associated | relid=0 | w=29
  3858. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:endocrine and neurologic defects may become apparent later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:endocrine and neurologic defects may become apparent later in life | rel=r_associated | relid=0 | w=29
  3859. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | rel=r_associated | relid=0 | w=29
  3860. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:estimated frequence 1/3000 to 1/5000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=29
  3861. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:estimated frequency 1.6 cases/10,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated frequency 1.6 cases/10,000 live births | rel=r_associated | relid=0 | w=29
  3862. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:exacerbation at puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exacerbation at puberty | rel=r_associated | relid=0 | w=29
  3863. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:expression more severe in females than males, except for mosaic males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:expression more severe in females than males, except for mosaic males | rel=r_associated | relid=0 | w=29
  3864. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:facial dysmorphism is age-related and alters substantially over time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:facial dysmorphism is age-related and alters substantially over time | rel=r_associated | relid=0 | w=29
  3865. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:family a had a severe multisystem disorder resulting in death before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=29
  3866. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:fatal before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=29
  3867. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:fatal without lung transplant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal without lung transplant | rel=r_associated | relid=0 | w=29
  3868. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | rel=r_associated | relid=0 | w=29
  3869. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:favorable response to bh4
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to bh4 | rel=r_associated | relid=0 | w=29
  3870. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:favorable response to oral creatine treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to oral creatine treatment | rel=r_associated | relid=0 | w=29
  3871. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:favorable response to treatment with riboflavin
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to treatment with riboflavin | rel=r_associated | relid=0 | w=29
  3872. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | rel=r_associated | relid=0 | w=29
  3873. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:feet are unaffected in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:feet are unaffected in some patients | rel=r_associated | relid=0 | w=29
  3874. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:female carriers exhibit short stature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers exhibit short stature | rel=r_associated | relid=0 | w=29
  3875. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:female carriers may show some manifestations, such as hearing impairment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may show some manifestations, such as hearing impairment | rel=r_associated | relid=0 | w=29
  3876. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:females have milder manifestations than males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females have milder manifestations than males | rel=r_associated | relid=0 | w=29
  3877. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:fetal death usually occurs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fetal death usually occurs | rel=r_associated | relid=0 | w=29
  3878. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:figure associated with report or note:-:point in time:^patient:-
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:figure associated with report or note:-:point in time:^patient:- | rel=r_associated | relid=0 | w=29
  3879. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:five unrelated patients have been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=29
  3880. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3881. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:food intolerance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:food intolerance | rel=r_associated | relid=0 | w=29
  3882. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:for similar autosomal dominant form, see 162350
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:for similar autosomal dominant form, see 162350 | rel=r_associated | relid=0 | w=29
  3883. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:found predominantly in the amish population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:found predominantly in the amish population | rel=r_associated | relid=0 | w=29
  3884. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:four clinical forms of krabbe disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four clinical forms of krabbe disease | rel=r_associated | relid=0 | w=29
  3885. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | rel=r_associated | relid=0 | w=29
  3886. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:four individual patients and 1 saudi family have been reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four individual patients and 1 saudi family have been reported (as of february 2012) | rel=r_associated | relid=0 | w=29
  3887. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:four major groups: early infantile, late infantile, juvenile, adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four major groups: early infantile, late infantile, juvenile, adult | rel=r_associated | relid=0 | w=29
  3888. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:four unrelated patients have been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=29
  3889. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:frequency increases with advancing age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency increases with advancing age | rel=r_associated | relid=0 | w=29
  3890. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (bor2, 610896)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (bor2, 610896) | rel=r_associated | relid=0 | w=29
  3891. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see bfic2, 605751)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see bfic2, 605751) | rel=r_associated | relid=0 | w=29
  3892. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cftd1, 255310)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cftd1, 255310) | rel=r_associated | relid=0 | w=29
  3893. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | rel=r_associated | relid=0 | w=29
  3894. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cmtdia 606483)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cmtdia 606483) | rel=r_associated | relid=0 | w=29
  3895. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=29
  3896. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see hht1, 187300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see hht1, 187300) | rel=r_associated | relid=0 | w=29
  3897. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see npc2, 607625)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see npc2, 607625) | rel=r_associated | relid=0 | w=29
  3898. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | rel=r_associated | relid=0 | w=29
  3899. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:gonadal mosaicism reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gonadal mosaicism reported | rel=r_associated | relid=0 | w=29
  3900. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:hair may normalize at puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hair may normalize at puberty | rel=r_associated | relid=0 | w=29
  3901. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:hair, nails, and teeth are normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hair, nails, and teeth are normal | rel=r_associated | relid=0 | w=29
  3902. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:headaches last hours to days
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:headaches last hours to days | rel=r_associated | relid=0 | w=29
  3903. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:hearing loss is congenital and nonprogressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss is congenital and nonprogressive | rel=r_associated | relid=0 | w=29
  3904. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:hearing loss is nonprogressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss is nonprogressive | rel=r_associated | relid=0 | w=29
  3905. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3906. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | rel=r_associated | relid=0 | w=29
  3907. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | rel=r_associated | relid=0 | w=29
  3908. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | rel=r_associated | relid=0 | w=29
  3909. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:heterozygous females more mildly affected than hemizygous males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=29
  3910. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:high frequency among french-canadians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency among french-canadians | rel=r_associated | relid=0 | w=29
  3911. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:high frequency in equatorial africa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in equatorial africa | rel=r_associated | relid=0 | w=29
  3912. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:high frequency in northeastern brazil
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in northeastern brazil | rel=r_associated | relid=0 | w=29
  3913. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:high incidence among old order amish
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high incidence among old order amish | rel=r_associated | relid=0 | w=29
  3914. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:highly variable clinical and immunologic phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable clinical and immunologic phenotype | rel=r_associated | relid=0 | w=29
  3915. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:highly variable phenotype and severity, even within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype and severity, even within families | rel=r_associated | relid=0 | w=29
  3916. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:highly variable severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable severity | rel=r_associated | relid=0 | w=29
  3917. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | rel=r_associated | relid=0 | w=29
  3918. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | rel=r_associated | relid=0 | w=29
  3919. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:hyponatremia usually associated with gastroenteritis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyponatremia usually associated with gastroenteritis | rel=r_associated | relid=0 | w=29
  3920. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:improvement with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:improvement with age | rel=r_associated | relid=0 | w=29
  3921. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence 7-15% in pacific island populations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 7-15% in pacific island populations | rel=r_associated | relid=0 | w=29
  3922. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence 8/1,000 newborns
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=29
  3923. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence in united states of 1 in 55,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence in united states of 1 in 55,000 | rel=r_associated | relid=0 | w=29
  3924. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 100 in some local nordic areas
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 100 in some local nordic areas | rel=r_associated | relid=0 | w=29
  3925. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 300,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 300,000 | rel=r_associated | relid=0 | w=29
  3926. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 50,000 to 1 in 100,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=29
  3927. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 per 10,000 births in japan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 per 10,000 births in japan | rel=r_associated | relid=0 | w=29
  3928. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incidence of 1/50,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1/50,000 births | rel=r_associated | relid=0 | w=29
  3929. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:incomplete age-dependent penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete age-dependent penetrance | rel=r_associated | relid=0 | w=29
  3930. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:increased morbidity/mortality in affected males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased morbidity/mortality in affected males | rel=r_associated | relid=0 | w=29
  3931. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:increased penetrance of phenotype when there is maternal transmission of the mutant allele
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | rel=r_associated | relid=0 | w=29
  3932. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:increased risk of post-splenectomy thrombotic complications (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of post-splenectomy thrombotic complications (in some patients) | rel=r_associated | relid=0 | w=29
  3933. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:increased sensitivity to valproic acid toxicity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=29
  3934. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:infants show normal size and appearance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=29
  3935. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:juvenile rigid early-onset form more often paternally inherited
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=29
  3936. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:keratitis-ichthyosis-deafness syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:keratitis-ichthyosis-deafness syndrome | rel=r_associated | relid=0 | w=29
  3937. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:late infantile onset 6-24 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=29
  3938. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:late onset combined immunodeficiency with allelic variant 102700.0020
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late onset combined immunodeficiency with allelic variant 102700.0020 | rel=r_associated | relid=0 | w=29
  3939. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:late-adult onset (age 50 or later)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late-adult onset (age 50 or later) | rel=r_associated | relid=0 | w=29
  3940. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:late-adult onset (range 50 to 80 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late-adult onset (range 50 to 80 years) | rel=r_associated | relid=0 | w=29
  3941. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:lesions increase in size and number with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions increase in size and number with age | rel=r_associated | relid=0 | w=29
  3942. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:lesions may become more prominent with sun exposure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions may become more prominent with sun exposure | rel=r_associated | relid=0 | w=29
  3943. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:lesions provoked by friction, sun exposure, heat, and injury
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=29
  3944. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:less than 20% have onset at 18 years of age or less (dominant and recessive)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=29
  3945. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=29
  3946. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:likely allelic to sc phocomelia syndrome (269000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:likely allelic to sc phocomelia syndrome (269000) | rel=r_associated | relid=0 | w=29
  3947. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=29
  3948. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:limited clinical information provided on patients with bbs7 mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limited clinical information provided on patients with bbs7 mutations | rel=r_associated | relid=0 | w=29
  3949. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:liver functions return to normal after 3 to 4 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver functions return to normal after 3 to 4 months | rel=r_associated | relid=0 | w=29
  3950. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:loss of tumor suppressor gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=29
  3951. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:major fetal plasma protein produced by yolk sac and liver
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:major fetal plasma protein produced by yolk sac and liver | rel=r_associated | relid=0 | w=29
  3952. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:majority of patients die in neonatal period secondary to respiratory insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=29
  3953. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:majority of por deficiency patients have an abs-like phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of por deficiency patients have an abs-like phenotype | rel=r_associated | relid=0 | w=29
  3954. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | rel=r_associated | relid=0 | w=29
  3955. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | rel=r_associated | relid=0 | w=29
  3956. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:maternal imprinting
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=29
  3957. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3958. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:may be fatal in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be fatal in infancy | rel=r_associated | relid=0 | w=29
  3959. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3960. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:may have seasonal variance in severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=29
  3961. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:may result in sudden death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may result in sudden death | rel=r_associated | relid=0 | w=29
  3962. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age at diagnosis is 38 years(range 11-63 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at diagnosis is 38 years(range 11-63 years) | rel=r_associated | relid=0 | w=29
  3963. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | rel=r_associated | relid=0 | w=29
  3964. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age at onset of dementia is 57 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=29
  3965. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  3966. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age at onset of migraines is 42 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=29
  3967. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age of onset 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 30 years | rel=r_associated | relid=0 | w=29
  3968. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age of onset 34 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 34 months | rel=r_associated | relid=0 | w=29
  3969. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mean age of onset 50.2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 50.2 years | rel=r_associated | relid=0 | w=29
  3970. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> 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:two unrelated families have been reported (last curated february 2016) | 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=29
  3971. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:median age at onset 23 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=29
  3972. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:metabolic decompensation, episodic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:metabolic decompensation, episodic | rel=r_associated | relid=0 | w=29
  3973. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mild phenotype onset - 11-18 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild phenotype onset - 11-18 months | rel=r_associated | relid=0 | w=29
  3974. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | rel=r_associated | relid=0 | w=29
  3975. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:more common in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in females | rel=r_associated | relid=0 | w=29
  3976. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mortality, premature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mortality, premature | rel=r_associated | relid=0 | w=29
  3977. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most cases do not have mutations in the mapt gene, but map to chromosome 17q
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | rel=r_associated | relid=0 | w=29
  3978. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most common inherited giant platelet disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common inherited giant platelet disorder | rel=r_associated | relid=0 | w=29
  3979. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most have resolution of symptoms between 6 and 12 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most have resolution of symptoms between 6 and 12 months | rel=r_associated | relid=0 | w=29
  3980. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most patients die in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die in early childhood | rel=r_associated | relid=0 | w=29
  3981. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most patients die in the neonatal period due to respiratory insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die in the neonatal period due to respiratory insufficiency | rel=r_associated | relid=0 | w=29
  3982. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most patients have adult onset of symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients have adult onset of symptoms | rel=r_associated | relid=0 | w=29
  3983. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most retain independent ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most retain independent ambulation | rel=r_associated | relid=0 | w=29
  3984. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:most severe type of von willebrand disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most severe type of von willebrand disease | rel=r_associated | relid=0 | w=29
  3985. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mother had rubella infection during pregnancy with daughter
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mother had rubella infection during pregnancy with daughter | rel=r_associated | relid=0 | w=29
  3986. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:muscle symptoms precede cardiac symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:muscle symptoms precede cardiac symptoms | rel=r_associated | relid=0 | w=29
  3987. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:mutation carriers may show toxicity to 5-fluorouracil (5fu)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=29
  3988. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:myoclonus is presenting symptom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:myoclonus is presenting symptom | rel=r_associated | relid=0 | w=29
  3989. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:narcolepsy and deafness are the first symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:narcolepsy and deafness are the first symptoms | rel=r_associated | relid=0 | w=29
  3990. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:near-normoglycemic remission for period of months to years without insulin treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:near-normoglycemic remission for period of months to years without insulin treatment | rel=r_associated | relid=0 | w=29
  3991. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:neurologic signs are present in the neonatal period only
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic signs are present in the neonatal period only | rel=r_associated | relid=0 | w=29
  3992. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:nine patients have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
  3993. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:no abnormalities of hair, teeth, or bones
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no abnormalities of hair, teeth, or bones | rel=r_associated | relid=0 | w=29
  3994. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:no laterality defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no laterality defects | rel=r_associated | relid=0 | w=29
  3995. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:no preceding skin inflammatory stage
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no preceding skin inflammatory stage | rel=r_associated | relid=0 | w=29
  3996. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:nonprogressive or very slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonprogressive or very slowly progressive | rel=r_associated | relid=0 | w=29
  3997. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:nonsyndromic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonsyndromic | rel=r_associated | relid=0 | w=29
  3998. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:nonsyndromic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nonsyndromic disorder | rel=r_associated | relid=0 | w=29
  3999. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:normal ability to tolerate heat
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal ability to tolerate heat | rel=r_associated | relid=0 | w=29
  4000. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:normal cag repeat length is 7 to 32 triplets
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal cag repeat length is 7 to 32 triplets | rel=r_associated | relid=0 | w=29
  4001. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:obligatory heterozygotes are clinically unaffected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:obligatory heterozygotes are clinically unaffected | rel=r_associated | relid=0 | w=29
  4002. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:observed in individuals of bulgarian roma bowlmaker ethnic group
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:observed in individuals of bulgarian roma bowlmaker ethnic group | rel=r_associated | relid=0 | w=29
  4003. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:occurs in 2-5 per 10,000 individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in 2-5 per 10,000 individuals | rel=r_associated | relid=0 | w=29
  4004. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:occurs in full-term newborns
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in full-term newborns | rel=r_associated | relid=0 | w=29
  4005. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:often reared as females until puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often reared as females until puberty | rel=r_associated | relid=0 | w=29
  4006. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one 3-generation italian family has been described (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 3-generation italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=29
  4007. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | rel=r_associated | relid=0 | w=29
  4008. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one 5-generation chinese family reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one 5-generation chinese family reported (last curated november 2014) | rel=r_associated | relid=0 | w=29
  4009. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one canadian mennonite family has been reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one canadian mennonite family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  4010. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one chinese family with a confirmed mutation has been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=29
  4011. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4012. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one consanguineous family has been reported (last curated november 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=29
  4013. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one consanguineous pakistani family has been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=29
  4014. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one consanguineous saudi family has been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous saudi family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=29
  4015. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=29
  4016. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=29
  4017. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated october 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated october 2013) | rel=r_associated | relid=0 | w=29
  4018. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29
  4019. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family of algerian descent has been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of algerian descent has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
  4020. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family of french-canadian origin has been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of french-canadian origin has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
  4021. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family of mali origin has been reported (last curated january 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of mali origin has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=29
  4022. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family reported (last curated may 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (last curated may 2013) | rel=r_associated | relid=0 | w=29
  4023. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family with 2 sisters have been reported (as of march 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 2 sisters have been reported (as of march 2010) | rel=r_associated | relid=0 | w=29
  4024. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=29
  4025. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one han chinese family and one german family have been described (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one han chinese family and one german family have been described (last curated april 2015) | rel=r_associated | relid=0 | w=29
  4026. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one large family has been reported (as of 2008)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large family has been reported (as of 2008) | rel=r_associated | relid=0 | w=29
  4027. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one patient died at age 7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient died at age 7 years | rel=r_associated | relid=0 | w=29
  4028. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one patient has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported | rel=r_associated | relid=0 | w=29
  4029. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one patient has been reported (last curated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=29
  4030. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:one spanish family has been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one spanish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=29
  4031. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | rel=r_associated | relid=0 | w=29
  4032. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset 10-20 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 10-20 years of age | rel=r_associated | relid=0 | w=29
  4033. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset 2-4 years of age in iia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 2-4 years of age in iia | rel=r_associated | relid=0 | w=29
  4034. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset 6 to 18 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 6 to 18 months | rel=r_associated | relid=0 | w=29
  4035. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset age 15-25 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset age 15-25 years | rel=r_associated | relid=0 | w=29
  4036. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset age 32 to 45 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset age 32 to 45 years | rel=r_associated | relid=0 | w=29
  4037. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset at 4 to 7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 4 to 7 years | rel=r_associated | relid=0 | w=29
  4038. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset at birth or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at birth or early childhood | rel=r_associated | relid=0 | w=29
  4039. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset between 15 and 27 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 15 and 27 years | rel=r_associated | relid=0 | w=29
  4040. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset between 18 and 65 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 18 and 65 years | rel=r_associated | relid=0 | w=29
  4041. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset between 28 and 42 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 28 and 42 years | rel=r_associated | relid=0 | w=29
  4042. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset between 3 and 8 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 3 and 8 months of age | rel=r_associated | relid=0 | w=29
  4043. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset between 35-43 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 35-43 years of age | rel=r_associated | relid=0 | w=29
  4044. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset between ages 12 and 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between ages 12 and 20 years | rel=r_associated | relid=0 | w=29
  4045. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> 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:two unrelated families have been reported (last curated february 2016) | 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=29
  4046. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset from birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset from birth | rel=r_associated | relid=0 | w=29
  4047. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in adolescence to early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in adolescence to early adulthood | rel=r_associated | relid=0 | w=29
  4048. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in childhood (range 1 to 12 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range 1 to 12 years) | rel=r_associated | relid=0 | w=29
  4049. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in childhood (range birth to 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range birth to 10 years) | rel=r_associated | relid=0 | w=29
  4050. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in childhood (range infancy to 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range infancy to 10 years) | rel=r_associated | relid=0 | w=29
  4051. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in childhood or as young adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or as young adult | rel=r_associated | relid=0 | w=29
  4052. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in early childhood (infancy to 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood (infancy to 5 years) | rel=r_associated | relid=0 | w=29
  4053. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in early infancy (2 to 3 months of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early infancy (2 to 3 months of age) | rel=r_associated | relid=0 | w=29
  4054. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in fifties or sixties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in fifties or sixties | rel=r_associated | relid=0 | w=29
  4055. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in first decade (birth to age 5 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade (birth to age 5 years) | rel=r_associated | relid=0 | w=29
  4056. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in infancy (3 to 7 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy (3 to 7 months) | rel=r_associated | relid=0 | w=29
  4057. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in infancy (first hours to weeks of life)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy (first hours to weeks of life) | rel=r_associated | relid=0 | w=29
  4058. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in infancy after weaning
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy after weaning | rel=r_associated | relid=0 | w=29
  4059. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in infancy or at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or at birth | rel=r_associated | relid=0 | w=29
  4060. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in late teens to early forties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late teens to early forties | rel=r_associated | relid=0 | w=29
  4061. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in late twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late twenties | rel=r_associated | relid=0 | w=29
  4062. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in neonatal period or early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in neonatal period or early infancy | rel=r_associated | relid=0 | w=29
  4063. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in neonatal period or infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in neonatal period or infancy | rel=r_associated | relid=0 | w=29
  4064. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in the perinatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the perinatal period | rel=r_associated | relid=0 | w=29
  4065. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset in utero or early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in utero or early infancy | rel=r_associated | relid=0 | w=29
  4066. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of acute encephalopathic attacks in childhood (3 to 7 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | rel=r_associated | relid=0 | w=29
  4067. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of ataxia between 1 and 3 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of ataxia between 1 and 3 years of age | rel=r_associated | relid=0 | w=29
  4068. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of autoinflammation in infancy or first few years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of autoinflammation in infancy or first few years of life | rel=r_associated | relid=0 | w=29
  4069. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of bone disease in second decade (range 18-44 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of bone disease in second decade (range 18-44 years) | rel=r_associated | relid=0 | w=29
  4070. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of disease around 10 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease around 10 years of age | rel=r_associated | relid=0 | w=29
  4071. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of disease within the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease within the first year of life | rel=r_associated | relid=0 | w=29
  4072. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of episodic liver failure in first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of episodic liver failure in first 2 years of life | rel=r_associated | relid=0 | w=29
  4073. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of hearing loss in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in childhood | rel=r_associated | relid=0 | w=29
  4074. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of hearing loss in late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in late childhood | rel=r_associated | relid=0 | w=29
  4075. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of malignancy can occur throughout life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of malignancy can occur throughout life | rel=r_associated | relid=0 | w=29
  4076. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of myoclonus later in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of myoclonus later in childhood | rel=r_associated | relid=0 | w=29
  4077. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of neurologic events can occur between 4 and 35 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of neurologic events can occur between 4 and 35 years of age | rel=r_associated | relid=0 | w=29
  4078. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of parkinsonism in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of parkinsonism in first decade | rel=r_associated | relid=0 | w=29
  4079. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of progressive spastic paraplegia in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of progressive spastic paraplegia in childhood | rel=r_associated | relid=0 | w=29
  4080. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of proteinuria in the third to fourth decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of proteinuria in the third to fourth decades | rel=r_associated | relid=0 | w=29
  4081. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of seizures before age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures before age 2 years | rel=r_associated | relid=0 | w=29
  4082. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of seizures in later childhood (5 to 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures in later childhood (5 to 10 years) | rel=r_associated | relid=0 | w=29
  4083. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of skin manifestations from birth to puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of skin manifestations from birth to puberty | rel=r_associated | relid=0 | w=29
  4084. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of symptoms after age 5
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms after age 5 | rel=r_associated | relid=0 | w=29
  4085. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset of symptoms in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in childhood | rel=r_associated | relid=0 | w=29
  4086. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset ranges from childhood to young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=29
  4087. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset usually at 2 to 6 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually at 2 to 6 months of age | rel=r_associated | relid=0 | w=29
  4088. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset usually before age 10 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually before age 10 years | rel=r_associated | relid=0 | w=29
  4089. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset usually in childhood (infancy to teens)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood (infancy to teens) | rel=r_associated | relid=0 | w=29
  4090. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset usually in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in first decade | rel=r_associated | relid=0 | w=29
  4091. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset usually in second decade (may occur earlier)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in second decade (may occur earlier) | rel=r_associated | relid=0 | w=29
  4092. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset usually in the first 4 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in the first 4 years of life | rel=r_associated | relid=0 | w=29
  4093. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset usually in third or fourth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in third or fourth decade | rel=r_associated | relid=0 | w=29
  4094. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset within first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset within first 2 years of life | rel=r_associated | relid=0 | w=29
  4095. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:onset within first 6 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset within first 6 months of life | rel=r_associated | relid=0 | w=29
  4096. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> 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:two unrelated families have been reported (last curated february 2016) | 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=29
  4097. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | rel=r_associated | relid=0 | w=29
  4098. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:overall course less severe compared to patients with cfh (134370) mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overall course less severe compared to patients with cfh (134370) mutations | rel=r_associated | relid=0 | w=29
  4099. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients can be divided into 2 groups based on whether typical hand anomalies are present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | rel=r_associated | relid=0 | w=29
  4100. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients develop acute symptoms under physiologic stress due to illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients develop acute symptoms under physiologic stress due to illness | rel=r_associated | relid=0 | w=29
  4101. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients from 4 unrelated families have been reported (as of october 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients from 4 unrelated families have been reported (as of october 2011) | rel=r_associated | relid=0 | w=29
  4102. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients may present with autoimmune features or primary immunodeficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may present with autoimmune features or primary immunodeficiency | rel=r_associated | relid=0 | w=29
  4103. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | rel=r_associated | relid=0 | w=29
  4104. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients often become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients often become wheelchair-bound | rel=r_associated | relid=0 | w=29
  4105. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients often require implantation of a pacemaker
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients often require implantation of a pacemaker | rel=r_associated | relid=0 | w=29
  4106. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients show sorbitol and glycerol intolerance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients show sorbitol and glycerol intolerance | rel=r_associated | relid=0 | w=29
  4107. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4108. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | rel=r_associated | relid=0 | w=29
  4109. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | rel=r_associated | relid=0 | w=29
  4110. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:pedigrees compatible with autosomal dominant inheritance have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pedigrees compatible with autosomal dominant inheritance have been reported | rel=r_associated | relid=0 | w=29
  4111. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:penetrance is usually complete by age 65 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:penetrance is usually complete by age 65 years | rel=r_associated | relid=0 | w=29
  4112. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | rel=r_associated | relid=0 | w=29
  4113. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:phenotype may or may not be consistent within a family.
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype may or may not be consistent within a family. | rel=r_associated | relid=0 | w=29
  4114. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | rel=r_associated | relid=0 | w=29
  4115. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4116. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | rel=r_associated | relid=0 | w=29
  4117. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:phenotypic variation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic variation | rel=r_associated | relid=0 | w=29
  4118. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:phenotypically mild form of joubert syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypically mild form of joubert syndrome | rel=r_associated | relid=0 | w=29
  4119. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:pigmented spots appear in infancy through childhood and fade in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pigmented spots appear in infancy through childhood and fade in adulthood | rel=r_associated | relid=0 | w=29
  4120. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:poor response to acetylcholinesterase inhibitors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=29
  4121. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:possible gonadal mosaicism in one report
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible gonadal mosaicism in one report | rel=r_associated | relid=0 | w=29
  4122. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:possible increase of aneuploidy in offspring
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible increase of aneuploidy in offspring | rel=r_associated | relid=0 | w=29
  4123. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:possible x-linked inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible x-linked inheritance | rel=r_associated | relid=0 | w=29
  4124. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:prenatal diagnosis available
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal diagnosis available | rel=r_associated | relid=0 | w=29
  4125. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:prenatal onset or onset at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal onset or onset at birth | rel=r_associated | relid=0 | w=29
  4126. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:prenatal or perinatal lethality in hemizygous males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal or perinatal lethality in hemizygous males | rel=r_associated | relid=0 | w=29
  4127. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | rel=r_associated | relid=0 | w=29
  4128. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:present in jewish yemenite population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:present in jewish yemenite population | rel=r_associated | relid=0 | w=29
  4129. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4130. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:prevalence 1 in 8000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence 1 in 8000 | rel=r_associated | relid=0 | w=29
  4131. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:prevalence in norway is 1 in 80,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in norway is 1 in 80,000 | rel=r_associated | relid=0 | w=29
  4132. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 1,429 in tanzania
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 1,429 in tanzania | rel=r_associated | relid=0 | w=29
  4133. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:prognosis good
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prognosis good | rel=r_associated | relid=0 | w=29
  4134. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:progression of the disorder is precipitated by viral symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progression of the disorder is precipitated by viral symptoms | rel=r_associated | relid=0 | w=29
  4135. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:progressive disease with onset in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disease with onset in infancy | rel=r_associated | relid=0 | w=29
  4136. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:rapidly progressive (6-24 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive (6-24 months) | rel=r_associated | relid=0 | w=29
  4137. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | rel=r_associated | relid=0 | w=29
  4138. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:rare adult cases reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rare adult cases reported | rel=r_associated | relid=0 | w=29
  4139. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:rare adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rare adult onset | rel=r_associated | relid=0 | w=29
  4140. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:rare disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rare disorder | rel=r_associated | relid=0 | w=29
  4141. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:recurrent acute episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent acute episodes | rel=r_associated | relid=0 | w=29
  4142. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:reference lab test method:type:time reported elsewhere:reference lab test:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=29
  4143. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:regression in infancy (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:regression in infancy (in some patients) | rel=r_associated | relid=0 | w=29
  4144. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:relatively benign course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relatively benign course | rel=r_associated | relid=0 | w=29
  4145. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:relatively mild course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relatively mild course | rel=r_associated | relid=0 | w=29
  4146. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:relief is achieved by cooling or by elevating the extremities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relief is achieved by cooling or by elevating the extremities | rel=r_associated | relid=0 | w=29
  4147. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:renal failure in second or third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:renal failure in second or third decade | rel=r_associated | relid=0 | w=29
  4148. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:residual neurologic deficits are slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:residual neurologic deficits are slowly progressive | rel=r_associated | relid=0 | w=29
  4149. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:responsive to high-dose biotin or biotin/thiamine treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:responsive to high-dose biotin or biotin/thiamine treatment | rel=r_associated | relid=0 | w=29
  4150. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4151. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:risk of sudden death due to cardiac defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of sudden death due to cardiac defects | rel=r_associated | relid=0 | w=29
  4152. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see (608328) for a phenotypically similar autosomal dominant form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see (608328) for a phenotypically similar autosomal dominant form | rel=r_associated | relid=0 | w=29
  4153. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see 177850 for description of heterozygous phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see 177850 for description of heterozygous phenotype | rel=r_associated | relid=0 | w=29
  4154. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see 607731 for an autosomal recessive form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see 607731 for an autosomal recessive form | rel=r_associated | relid=0 | w=29
  4155. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | rel=r_associated | relid=0 | w=29
  4156. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also chromosome 2q32-q33 deletion syndrome (612313)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also chromosome 2q32-q33 deletion syndrome (612313) | rel=r_associated | relid=0 | w=29
  4157. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also dyssegmental dysplasia, silverman-handmaker type (224410)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | rel=r_associated | relid=0 | w=29
  4158. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also gaucher disease type iii (231000), which is much less severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also gaucher disease type iii (231000), which is much less severe | rel=r_associated | relid=0 | w=29
  4159. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4160. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also pachyonychia congenita, type 3 (pc1, 167200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pachyonychia congenita, type 3 (pc1, 167200) | rel=r_associated | relid=0 | w=29
  4161. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also pfm3 on chromosome 4q21-q23 (609566)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pfm3 on chromosome 4q21-q23 (609566) | rel=r_associated | relid=0 | w=29
  4162. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also pseudohypoparathyroidism type ia (php1a, 103580)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | rel=r_associated | relid=0 | w=29
  4163. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also recessive deb (226600), an allelic disorder with a more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=29
  4164. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also two x-linked forms 300633 and 300758
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also two x-linked forms 300633 and 300758 | rel=r_associated | relid=0 | w=29
  4165. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | rel=r_associated | relid=0 | w=29
  4166. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4167. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see cmt4a (214400) for autosomal recessive demyelinating forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see cmt4a (214400) for autosomal recessive demyelinating forms | rel=r_associated | relid=0 | w=29
  4168. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:see the more common methemoglobinemia types i and ii (250800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see the more common methemoglobinemia types i and ii (250800) | rel=r_associated | relid=0 | w=29
  4169. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:seizure onset at a mean of 14 months (range 6 to 36 months)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizure onset at a mean of 14 months (range 6 to 36 months) | rel=r_associated | relid=0 | w=29
  4170. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:seizures are easily controlled by medications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are easily controlled by medications | rel=r_associated | relid=0 | w=29
  4171. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:seizures are often refractory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are often refractory | rel=r_associated | relid=0 | w=29
  4172. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:seizures may remit with age (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may remit with age (in some patients) | rel=r_associated | relid=0 | w=29
  4173. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:seizures resolve by 4 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures resolve by 4 months of age | rel=r_associated | relid=0 | w=29
  4174. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4175. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4176. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4177. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4178. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4179. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4180. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29
  4181. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4182. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4183. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4184. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:seven patients from 4 families in israel have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seven patients from 4 families in israel have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
  4185. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:similar clinical phenotype to edsiii (130020)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:similar clinical phenotype to edsiii (130020) | rel=r_associated | relid=0 | w=29
  4186. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:skin lesions are primarily trauma-induced but occasionally appear spontaneously
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | rel=r_associated | relid=0 | w=29
  4187. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:skin lesions improve in the summer
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions improve in the summer | rel=r_associated | relid=0 | w=29
  4188. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:skin lesions tend to occur on distal extremities or at elbows and knees
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions tend to occur on distal extremities or at elbows and knees | rel=r_associated | relid=0 | w=29
  4189. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:sleep terrors usually remit during adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sleep terrors usually remit during adolescence | rel=r_associated | relid=0 | w=29
  4190. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:solitary disease is more common in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:solitary disease is more common in males | rel=r_associated | relid=0 | w=29
  4191. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some carrier females have mild features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some carrier females have mild features | rel=r_associated | relid=0 | w=29
  4192. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some features are variably expressed
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features are variably expressed | rel=r_associated | relid=0 | w=29
  4193. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some features not found in all patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features not found in all patients | rel=r_associated | relid=0 | w=29
  4194. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some heterozygous cpt2 mutation carriers may be symptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some heterozygous cpt2 mutation carriers may be symptomatic | rel=r_associated | relid=0 | w=29
  4195. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some mutation carriers have mild features of frontonasal dysplasia (613451)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | rel=r_associated | relid=0 | w=29
  4196. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some patients do not achieve independent ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not achieve independent ambulation | rel=r_associated | relid=0 | w=29
  4197. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some patients experience later reversal of hypogonadotropic hypogonadism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients experience later reversal of hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=29
  4198. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some patients have a milder nonprogressive phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have a milder nonprogressive phenotype | rel=r_associated | relid=0 | w=29
  4199. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some patients have onset in second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=29
  4200. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some patients may not have recurrent infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may not have recurrent infections | rel=r_associated | relid=0 | w=29
  4201. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some patients never achieve walking or running
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients never achieve walking or running | rel=r_associated | relid=0 | w=29
  4202. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:some patients show improvement during summer or with fever
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show improvement during summer or with fever | rel=r_associated | relid=0 | w=29
  4203. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:sparing of some nails in some individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sparing of some nails in some individuals | rel=r_associated | relid=0 | w=29
  4204. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:spontaneous resolution usually after 12 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous resolution usually after 12 months of age | rel=r_associated | relid=0 | w=29
  4205. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:spontaneous reversal of gnrh deficiency may occur in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous reversal of gnrh deficiency may occur in some patients | rel=r_associated | relid=0 | w=29
  4206. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4207. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:striking intrafamilial variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:striking intrafamilial variability | rel=r_associated | relid=0 | w=29
  4208. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:subset of patients have french-canadian leigh syndrome (220111)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subset of patients have french-canadian leigh syndrome (220111) | rel=r_associated | relid=0 | w=29
  4209. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:subtle personality and behavioral changes are presenting signs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subtle personality and behavioral changes are presenting signs | rel=r_associated | relid=0 | w=29
  4210. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | rel=r_associated | relid=0 | w=29
  4211. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:subtype of migraine with aura
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subtype of migraine with aura | rel=r_associated | relid=0 | w=29
  4212. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:sudden death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death | rel=r_associated | relid=0 | w=29
  4213. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:sudden death due to cardiomyopathy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death due to cardiomyopathy | rel=r_associated | relid=0 | w=29
  4214. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:sudden death may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death may occur | rel=r_associated | relid=0 | w=29
  4215. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:surgical intervention is not always curative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:surgical intervention is not always curative | rel=r_associated | relid=0 | w=29
  4216. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:survival to advanced age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival to advanced age | rel=r_associated | relid=0 | w=29
  4217. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:survivors develop dysautonomia-like symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survivors develop dysautonomia-like symptoms | rel=r_associated | relid=0 | w=29
  4218. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | rel=r_associated | relid=0 | w=29
  4219. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:symptoms are responsive to cobalamin treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms are responsive to cobalamin treatment | rel=r_associated | relid=0 | w=29
  4220. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:symptoms begin focally, later segmental or generalized
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms begin focally, later segmental or generalized | rel=r_associated | relid=0 | w=29
  4221. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:symptoms may be precipitated by infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms may be precipitated by infection | rel=r_associated | relid=0 | w=29
  4222. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:symptoms noted at 2-3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms noted at 2-3 years | rel=r_associated | relid=0 | w=29
  4223. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:symptoms often improve gradually with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms often improve gradually with age | rel=r_associated | relid=0 | w=29
  4224. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:symptoms vary from asymptomatic patients to patients with metabolic acidosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | rel=r_associated | relid=0 | w=29
  4225. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:t-cell lymphopenia is more severe early in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:t-cell lymphopenia is more severe early in life | rel=r_associated | relid=0 | w=29
  4226. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:teeth may undergo post-eruptive changes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:teeth may undergo post-eruptive changes | rel=r_associated | relid=0 | w=29
  4227. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:the characteristic changes in the spine resolve by adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the characteristic changes in the spine resolve by adolescence | rel=r_associated | relid=0 | w=29
  4228. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:the most studied group is efe pygmies from ituri forest in northeast zaire
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the most studied group is efe pygmies from ituri forest in northeast zaire | rel=r_associated | relid=0 | w=29
  4229. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 | rel=r_associated | relid=0 | w=29
  4230. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:three families have been reported (last curated august 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=29
  4231. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:three families have been reported (last curated november 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families have been reported (last curated november 2010) | rel=r_associated | relid=0 | w=29
  4232. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:three fetuses from 1 family have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=29
  4233. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:three patients have been reported (as of october 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients have been reported (as of october 2009) | rel=r_associated | relid=0 | w=29
  4234. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:three patients reported, one with a wdpcp mutation (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | rel=r_associated | relid=0 | w=29
  4235. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:three unrelated patients have been reported (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=29
  4236. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:tooth agenesis ranges from 1 missing tooth to marked oligodontia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | rel=r_associated | relid=0 | w=29
  4237. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:torso and upper body remain normal in shape and contour
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:torso and upper body remain normal in shape and contour | rel=r_associated | relid=0 | w=29
  4238. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=29
  4239. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:trauma, anxiety, and/or stress can precipitate or aggravate edema
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | rel=r_associated | relid=0 | w=29
  4240. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:treatment with coq10 may result in some clinical improvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with coq10 may result in some clinical improvement | rel=r_associated | relid=0 | w=29
  4241. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:tremor is aggravated by emotional stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tremor is aggravated by emotional stress | rel=r_associated | relid=0 | w=29
  4242. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:triggered by exercise, fasting, or other metabolic stresses
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:triggered by exercise, fasting, or other metabolic stresses | rel=r_associated | relid=0 | w=29
  4243. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two consanguineous turkish families have been reported (as of august 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two consanguineous turkish families have been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  4244. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two families of canadian origin have been reported (last curated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families of canadian origin have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=29
  4245. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two families reported (last curated september 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families reported (last curated september 2012) | rel=r_associated | relid=0 | w=29
  4246. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two families with confirmed adra2b mutations have been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=29
  4247. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two jordanian sibs have been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two jordanian sibs have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=29
  4248. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two patients from spain have been reported (as of january 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients from spain have been reported (as of january 2012) | rel=r_associated | relid=0 | w=29
  4249. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two patients have been reported (as of august 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  4250. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two probands have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two probands have been reported | rel=r_associated | relid=0 | w=29
  4251. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two siblings of consanguineous turkish parents have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two siblings of consanguineous turkish parents have been reported | rel=r_associated | relid=0 | w=29
  4252. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two sibs died before 2 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs died before 2 years of age | rel=r_associated | relid=0 | w=29
  4253. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=29
  4254. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=29
  4255. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=29
  4256. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=29
  4257. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=29
  4258. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29
  4259. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated december 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=29
  4260. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | rel=r_associated | relid=0 | w=29
  4261. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | rel=r_associated | relid=0 | w=29
  4262. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:type 2b is characterized by increased affinity for platelet glycoprotein 1b
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | rel=r_associated | relid=0 | w=29
  4263. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:type iia tends to have more severe phenotype with earlier onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type iia tends to have more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=29
  4264. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:u-shaped pattern of temperature-dependent potassium flux (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=29
  4265. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:unusual cabbage-like odor
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:unusual cabbage-like odor | rel=r_associated | relid=0 | w=29
  4266. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:unusual skill with jigsaw puzzle
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:unusual skill with jigsaw puzzle | rel=r_associated | relid=0 | w=29
  4267. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:usual onset under age 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usual onset under age 30 years | rel=r_associated | relid=0 | w=29
  4268. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:usually adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually adult onset | rel=r_associated | relid=0 | w=29
  4269. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable abnormalities | rel=r_associated | relid=0 | w=29
  4270. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at diagnosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at diagnosis | rel=r_associated | relid=0 | w=29
  4271. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (infant to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (infant to adult) | rel=r_associated | relid=0 | w=29
  4272. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range 15 to 60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 15 to 60 years) | rel=r_associated | relid=0 | w=29
  4273. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range childhood to mid-sixties)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range childhood to mid-sixties) | rel=r_associated | relid=0 | w=29
  4274. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range first to third decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range first to third decade) | rel=r_associated | relid=0 | w=29
  4275. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range infancy to 30 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range infancy to 30 years) | rel=r_associated | relid=0 | w=29
  4276. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset of seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset of seizures | rel=r_associated | relid=0 | w=29
  4277. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset of symptoms, ranging from the second to seventh decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | rel=r_associated | relid=0 | w=29
  4278. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset, from birth to ninth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, from birth to ninth decade | rel=r_associated | relid=0 | w=29
  4279. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age at onset, usually in first decade, but can occur later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, usually in first decade, but can occur later | rel=r_associated | relid=0 | w=29
  4280. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age of onset (range 1-40 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (range 1-40 years) | rel=r_associated | relid=0 | w=29
  4281. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age of onset (range 13 to 67 years, median 48 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (range 13 to 67 years, median 48 years) | rel=r_associated | relid=0 | w=29
  4282. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable age of onset, ranging from 11 to 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset, ranging from 11 to 50 years | rel=r_associated | relid=0 | w=29
  4283. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable distribution, may be focal, segmental, multifocal, or generalized
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable distribution, may be focal, segmental, multifocal, or generalized | rel=r_associated | relid=0 | w=29
  4284. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable expressivity of each feature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expressivity of each feature | rel=r_associated | relid=0 | w=29
  4285. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable expressivity within a family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expressivity within a family | rel=r_associated | relid=0 | w=29
  4286. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable expressivity, some patients may be clinically asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expressivity, some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=29
  4287. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable frequency (weekly to yearly)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable frequency (weekly to yearly) | rel=r_associated | relid=0 | w=29
  4288. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable infectious phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable infectious phenotype | rel=r_associated | relid=0 | w=29
  4289. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable involvement of hematologic parameters
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable involvement of hematologic parameters | rel=r_associated | relid=0 | w=29
  4290. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable manifestation of features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable manifestation of features | rel=r_associated | relid=0 | w=29
  4291. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable manifestations | rel=r_associated | relid=0 | w=29
  4292. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable severity of brain malformations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity of brain malformations | rel=r_associated | relid=0 | w=29
  4293. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable severity of scaling and palmoplantar keratoderma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity of scaling and palmoplantar keratoderma | rel=r_associated | relid=0 | w=29
  4294. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variable severity, intrafamilial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity, intrafamilial | rel=r_associated | relid=0 | w=29
  4295. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variably severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variably severity | rel=r_associated | relid=0 | w=29
  4296. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:variant at may present with dystonia only
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variant at may present with dystonia only | rel=r_associated | relid=0 | w=29
  4297. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:wheelchair-bound after 2 decades of disease onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wheelchair-bound after 2 decades of disease onset | rel=r_associated | relid=0 | w=29
  4298. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:wide variability in severity of limb defects
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide variability in severity of limb defects | rel=r_associated | relid=0 | w=29
  4299. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:women are more often affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:women are more often affected | rel=r_associated | relid=0 | w=29
  4300. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:worldwide prevalence of 1/100,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:worldwide prevalence of 1/100,000 | rel=r_associated | relid=0 | w=29
  4301. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 29 / 0.674 -> en:z allele most common, only in caucasians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:z allele most common, only in caucasians | rel=r_associated | relid=0 | w=29
  4302. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:15% cases are familial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:15% cases are familial | rel=r_associated | relid=0 | w=28
  4303. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:2:1 female preponderance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:2:1 female preponderance | rel=r_associated | relid=0 | w=28
  4304. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:21 patients from 17 kindreds reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:21 patients from 17 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=28
  4305. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:50% of cases represent new mutations associated with advanced paternal age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=28
  4306. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | rel=r_associated | relid=0 | w=28
  4307. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:a minority of patients have onset after age 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a minority of patients have onset after age 30 years | rel=r_associated | relid=0 | w=28
  4308. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:a subgroup of patients with sponastrime dysplasia have severe mental retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | rel=r_associated | relid=0 | w=28
  4309. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:a subset of patients have heterozygous mutations, which may predispose to disease development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a subset of patients have heterozygous mutations, which may predispose to disease development | rel=r_associated | relid=0 | w=28
  4310. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:abnormal morphogenesis of first and second branchial arches
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:abnormal morphogenesis of first and second branchial arches | rel=r_associated | relid=0 | w=28
  4311. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | rel=r_associated | relid=0 | w=28
  4312. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:about 20% of female mutation carriers may show mild muscle weakness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=28
  4313. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:about 50% of patients become wheelchair-bound at an average age of 37 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 50% of patients become wheelchair-bound at an average age of 37 years | rel=r_associated | relid=0 | w=28
  4314. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | rel=r_associated | relid=0 | w=28
  4315. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4316. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:acute encephalopathic episodes may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acute encephalopathic episodes may occur | rel=r_associated | relid=0 | w=28
  4317. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:acute neurologic deterioration after viral illness has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acute neurologic deterioration after viral illness has been reported | rel=r_associated | relid=0 | w=28
  4318. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:adolescent or adult onset associated with neuropsychiatric symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adolescent or adult onset associated with neuropsychiatric symptoms | rel=r_associated | relid=0 | w=28
  4319. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:adult onset - 100-1,000 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset - 100-1,000 repeats | rel=r_associated | relid=0 | w=28
  4320. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:adult onset (mean of 30 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (mean of 30 years) | rel=r_associated | relid=0 | w=28
  4321. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:adult onset (thirties to forties)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (thirties to forties) | rel=r_associated | relid=0 | w=28
  4322. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | rel=r_associated | relid=0 | w=28
  4323. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:affected individuals have amnesia for events
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals have amnesia for events | rel=r_associated | relid=0 | w=28
  4324. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:affected males show onset of hematuria in first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males show onset of hematuria in first year of life | rel=r_associated | relid=0 | w=28
  4325. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:age at diagnosis 24 +/- 18 years for dominant disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=28
  4326. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:age at onset in males ranges from 3 to 7 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset in males ranges from 3 to 7 years | rel=r_associated | relid=0 | w=28
  4327. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:age of onset 5 to 22 years (mean 6.9)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 5 to 22 years (mean 6.9) | rel=r_associated | relid=0 | w=28
  4328. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:age of onset 6-12 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 6-12 years | rel=r_associated | relid=0 | w=28
  4329. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:age of onset between 20 to 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset between 20 to 30 years | rel=r_associated | relid=0 | w=28
  4330. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:age of onset usually 1 week to 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=28
  4331. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:all cases due to de novo mutation (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases due to de novo mutation (last curated february 2014) | rel=r_associated | relid=0 | w=28
  4332. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:all cases occur in old order amish, lancaster county, pennsylvania
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases occur in old order amish, lancaster county, pennsylvania | rel=r_associated | relid=0 | w=28
  4333. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal dominant form (129490)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal dominant form (129490) | rel=r_associated | relid=0 | w=28
  4334. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4335. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to ifap syndrome (308205)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to ifap syndrome (308205) | rel=r_associated | relid=0 | w=28
  4336. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to infantile neuroaxonal dystrophy (256600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | rel=r_associated | relid=0 | w=28
  4337. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | rel=r_associated | relid=0 | w=28
  4338. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | rel=r_associated | relid=0 | w=28
  4339. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  4340. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to autosomal recessive pxe (264800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to autosomal recessive pxe (264800) | rel=r_associated | relid=0 | w=28
  4341. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to dentinogenesis imperfecta 1 (125490)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to dentinogenesis imperfecta 1 (125490) | rel=r_associated | relid=0 | w=28
  4342. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | rel=r_associated | relid=0 | w=28
  4343. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to mevalonic aciduria (610377)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to mevalonic aciduria (610377) | rel=r_associated | relid=0 | w=28
  4344. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to mucolipidosis ii (252500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to mucolipidosis ii (252500) | rel=r_associated | relid=0 | w=28
  4345. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to mucopolysaccharidosis ivb
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to mucopolysaccharidosis ivb | rel=r_associated | relid=0 | w=28
  4346. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to myosin storage myopathy (608358)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to myosin storage myopathy (608358) | rel=r_associated | relid=0 | w=28
  4347. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to nephronophthisis 4 (606966)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to nephronophthisis 4 (606966) | rel=r_associated | relid=0 | w=28
  4348. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to noonan syndrome (163950)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to noonan syndrome (163950) | rel=r_associated | relid=0 | w=28
  4349. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | rel=r_associated | relid=0 | w=28
  4350. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | rel=r_associated | relid=0 | w=28
  4351. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | rel=r_associated | relid=0 | w=28
  4352. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:alopecia usually occurs around puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:alopecia usually occurs around puberty | rel=r_associated | relid=0 | w=28
  4353. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:anemia may show favorable response to alpha-interferon treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia may show favorable response to alpha-interferon treatment | rel=r_associated | relid=0 | w=28
  4354. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:anemia, diabetes, and deafness often show onset at different ages
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia, diabetes, and deafness often show onset at different ages | rel=r_associated | relid=0 | w=28
  4355. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:appear normal at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:appear normal at birth | rel=r_associated | relid=0 | w=28
  4356. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:approximately 50db loss in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 50db loss in adulthood | rel=r_associated | relid=0 | w=28
  4357. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | rel=r_associated | relid=0 | w=28
  4358. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | rel=r_associated | relid=0 | w=28
  4359. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:arrhythmias detected prenatally (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:arrhythmias detected prenatally (in some patients) | rel=r_associated | relid=0 | w=28
  4360. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:associated specifically with the gba d409h mutation (606463.0006)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated specifically with the gba d409h mutation (606463.0006) | rel=r_associated | relid=0 | w=28
  4361. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:associated with smoking
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with smoking | rel=r_associated | relid=0 | w=28
  4362. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:association with autoimmune diseases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:association with autoimmune diseases | rel=r_associated | relid=0 | w=28
  4363. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:asymmetric muscle involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:asymmetric muscle involvement | rel=r_associated | relid=0 | w=28
  4364. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:aura may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:aura may occur | rel=r_associated | relid=0 | w=28
  4365. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:autosomal dominant and autosomal recessive forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant and autosomal recessive forms | rel=r_associated | relid=0 | w=28
  4366. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:autosomal dominant with incomplete penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=28
  4367. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive form (240220)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive form (240220) | rel=r_associated | relid=0 | w=28
  4368. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance (245600) has also been suggested
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance (245600) has also been suggested | rel=r_associated | relid=0 | w=28
  4369. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance has also been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has also been reported | rel=r_associated | relid=0 | w=28
  4370. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance has been reported (see 601253.0010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has been reported (see 601253.0010) | rel=r_associated | relid=0 | w=28
  4371. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance has been reported in 1 case
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has been reported in 1 case | rel=r_associated | relid=0 | w=28
  4372. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:average age at onset 19 years (range 5 to 38)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset 19 years (range 5 to 38) | rel=r_associated | relid=0 | w=28
  4373. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:average age of onset 57 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age of onset 57 years | rel=r_associated | relid=0 | w=28
  4374. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on 1 5-generation family (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 5-generation family (last curated january 2015) | rel=r_associated | relid=0 | w=28
  4375. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on 13 patients in one family (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 13 patients in one family (last curated november 2012) | rel=r_associated | relid=0 | w=28
  4376. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on 2 siblings in a consanguineous family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 siblings in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=28
  4377. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | rel=r_associated | relid=0 | w=28
  4378. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on one jordanian family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=28
  4379. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4380. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on one report of brother and sister
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one report of brother and sister | rel=r_associated | relid=0 | w=28
  4381. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on report of 1 consanguineous pakistani family (last curated may 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | rel=r_associated | relid=0 | w=28
  4382. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on report of 2 affected brothers in 1 family (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | rel=r_associated | relid=0 | w=28
  4383. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on report of 2 individuals (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=28
  4384. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on report of one indian family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of one indian family (last curated august 2015) | rel=r_associated | relid=0 | w=28
  4385. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:based on reports of one family and one patient (last curated december 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on reports of one family and one patient (last curated december 2015) | rel=r_associated | relid=0 | w=28
  4386. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:behavioral problems including stubbornness and rage
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:behavioral problems including stubbornness and rage | rel=r_associated | relid=0 | w=28
  4387. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | rel=r_associated | relid=0 | w=28
  4388. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | rel=r_associated | relid=0 | w=28
  4389. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:blindness episodes are not associated with fhm episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:blindness episodes are not associated with fhm episodes | rel=r_associated | relid=0 | w=28
  4390. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:both demyelinating and axonal features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both demyelinating and axonal features | rel=r_associated | relid=0 | w=28
  4391. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:breech presentation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:breech presentation | rel=r_associated | relid=0 | w=28
  4392. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4393. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:capillary malformation are apparent at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:capillary malformation are apparent at birth | rel=r_associated | relid=0 | w=28
  4394. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4395. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:cataracts are progressive but may vary between eyes of an individual
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cataracts are progressive but may vary between eyes of an individual | rel=r_associated | relid=0 | w=28
  4396. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=28
  4397. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:childhood onset (range birth to 12 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood onset (range birth to 12 years) | rel=r_associated | relid=0 | w=28
  4398. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:childhood or young adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood or young adult onset | rel=r_associated | relid=0 | w=28
  4399. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:citation:bib:pt:reference lab test:nar
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:citation:bib:pt:reference lab test:nar | rel=r_associated | relid=0 | w=28
  4400. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:clinical presentation varies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical presentation varies | rel=r_associated | relid=0 | w=28
  4401. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> 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:two unrelated families have been reported (last curated february 2016) | 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=28
  4402. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:clinical variability seen in waardenburg syndrome type 1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical variability seen in waardenburg syndrome type 1 | rel=r_associated | relid=0 | w=28
  4403. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=28
  4404. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4405. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | rel=r_associated | relid=0 | w=28
  4406. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:congenital onset or onset before 2 years (prelingual)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:congenital onset or onset before 2 years (prelingual) | rel=r_associated | relid=0 | w=28
  4407. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:continuing ovulation and implantation after initiation of another pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:continuing ovulation and implantation after initiation of another pregnancy | rel=r_associated | relid=0 | w=28
  4408. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:de novo mutation in heterozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutation in heterozygotes | rel=r_associated | relid=0 | w=28
  4409. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | rel=r_associated | relid=0 | w=28
  4410. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death at birth or within first 2 years of life (severe form)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death at birth or within first 2 years of life (severe form) | rel=r_associated | relid=0 | w=28
  4411. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death before age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death before age 3 years | rel=r_associated | relid=0 | w=28
  4412. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death in first days of life (family b)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in first days of life (family b) | rel=r_associated | relid=0 | w=28
  4413. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death may occur in early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death may occur in early infancy | rel=r_associated | relid=0 | w=28
  4414. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death often by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often by age 2 years | rel=r_associated | relid=0 | w=28
  4415. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death often in first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often in first months of life | rel=r_associated | relid=0 | w=28
  4416. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death often in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often in infancy | rel=r_associated | relid=0 | w=28
  4417. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death often in the teenage years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often in the teenage years | rel=r_associated | relid=0 | w=28
  4418. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death usually by age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually by age 3 years | rel=r_associated | relid=0 | w=28
  4419. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death usually in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually in early childhood | rel=r_associated | relid=0 | w=28
  4420. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death usually within first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually within first 2 years of life | rel=r_associated | relid=0 | w=28
  4421. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:death within 3 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death within 3 months of life | rel=r_associated | relid=0 | w=28
  4422. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:deletions in naip gene (600355) found in 18% of smaii patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deletions in naip gene (600355) found in 18% of smaii patients | rel=r_associated | relid=0 | w=28
  4423. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:delta-f508 present in 70% of alleles
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:delta-f508 present in 70% of alleles | rel=r_associated | relid=0 | w=28
  4424. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:diagnosis typically between age 10-20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis typically between age 10-20 years | rel=r_associated | relid=0 | w=28
  4425. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> 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:two unrelated families have been reported (last curated february 2016) | 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=28
  4426. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:distinct disorder from familial erythrocytosis (ecyt1, 133100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | rel=r_associated | relid=0 | w=28
  4427. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:dramatic late catch-up growth occurs in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dramatic late catch-up growth occurs in adolescence | rel=r_associated | relid=0 | w=28
  4428. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | rel=r_associated | relid=0 | w=28
  4429. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:dysmorphic facial features are subtle
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic facial features are subtle | rel=r_associated | relid=0 | w=28
  4430. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:dysmorphic facial features may not be present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic facial features may not be present | rel=r_associated | relid=0 | w=28
  4431. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:dysmorphic facial features reported in 1 family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dysmorphic facial features reported in 1 family | rel=r_associated | relid=0 | w=28
  4432. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:dystonia is usually focal or segmental
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dystonia is usually focal or segmental | rel=r_associated | relid=0 | w=28
  4433. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:earlier onset is associated with a more severe disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=28
  4434. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:earlier onset is associated with more aggressive disease course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earlier onset is associated with more aggressive disease course | rel=r_associated | relid=0 | w=28
  4435. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:earlier onset is associated with more rapid progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=28
  4436. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:early age of onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early age of onset | rel=r_associated | relid=0 | w=28
  4437. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:early childhood lethality may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early childhood lethality may occur | rel=r_associated | relid=0 | w=28
  4438. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:early death in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death in males | rel=r_associated | relid=0 | w=28
  4439. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:early diagnosis and treatment prevent many complications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early diagnosis and treatment prevent many complications | rel=r_associated | relid=0 | w=28
  4440. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:early onset (1 month to 4 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset (1 month to 4 years) | rel=r_associated | relid=0 | w=28
  4441. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:early onset in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early onset in some patients | rel=r_associated | relid=0 | w=28
  4442. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:early treatment can reduce neurologic symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early treatment can reduce neurologic symptoms | rel=r_associated | relid=0 | w=28
  4443. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:elevated body temperatures to 42 degrees celsius
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=28
  4444. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:end-stage renal failure in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:end-stage renal failure in first decade | rel=r_associated | relid=0 | w=28
  4445. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:environmental triggers - cold and wet exposure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:environmental triggers - cold and wet exposure | rel=r_associated | relid=0 | w=28
  4446. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:estimated incidence 1/20,000 - 1/40,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated incidence 1/20,000 - 1/40,000 | rel=r_associated | relid=0 | w=28
  4447. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:exacerbation during febrile episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exacerbation during febrile episodes | rel=r_associated | relid=0 | w=28
  4448. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:facial appearance becomes more apparent with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:facial appearance becomes more apparent with age | rel=r_associated | relid=0 | w=28
  4449. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:families a and b had a more severe phenotype resulting in death in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:families a and b had a more severe phenotype resulting in death in early childhood | rel=r_associated | relid=0 | w=28
  4450. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:fatal without hematopoietic stem cell transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatal without hematopoietic stem cell transplantation | rel=r_associated | relid=0 | w=28
  4451. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:favorable response of episodic attacks to acetazolamide
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response of episodic attacks to acetazolamide | rel=r_associated | relid=0 | w=28
  4452. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:favorable response to acetylcholinesterase inhibitors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=28
  4453. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:favorable response to flunarizine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to flunarizine | rel=r_associated | relid=0 | w=28
  4454. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:favorable response to immunotherapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to immunotherapy | rel=r_associated | relid=0 | w=28
  4455. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:favorable response to oral bile acid therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to oral bile acid therapy | rel=r_associated | relid=0 | w=28
  4456. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:favorable response to treatment with coenzyme q10
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to treatment with coenzyme q10 | rel=r_associated | relid=0 | w=28
  4457. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | rel=r_associated | relid=0 | w=28
  4458. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:female carriers may have mild mental retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have mild mental retardation | rel=r_associated | relid=0 | w=28
  4459. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:female carriers may have subtle manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have subtle manifestations | rel=r_associated | relid=0 | w=28
  4460. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:female mutation carriers have earlier age at onset compared to male mutation carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female mutation carriers have earlier age at onset compared to male mutation carriers | rel=r_associated | relid=0 | w=28
  4461. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4462. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:female preponderance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female preponderance | rel=r_associated | relid=0 | w=28
  4463. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:fetal death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fetal death | rel=r_associated | relid=0 | w=28
  4464. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:first fracture in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=28
  4465. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | rel=r_associated | relid=0 | w=28
  4466. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:five clinical variants of msud unassociated with genotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five clinical variants of msud unassociated with genotype | rel=r_associated | relid=0 | w=28
  4467. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:five reported patients, all boys (as of july 2009)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five reported patients, all boys (as of july 2009) | rel=r_associated | relid=0 | w=28
  4468. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:foot deformities are present in infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=28
  4469. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:founder effect in turkish families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:founder effect in turkish families | rel=r_associated | relid=0 | w=28
  4470. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:four clinically indistinguishable biochemically distinct forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms | rel=r_associated | relid=0 | w=28
  4471. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:frequency of infections decreases after 3 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=28
  4472. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:gei (gene-environment interaction) - association of cardiac events with drug administration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gei (gene-environment interaction) - association of cardiac events with drug administration | rel=r_associated | relid=0 | w=28
  4473. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic anticipation has been observed
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic anticipation has been observed | rel=r_associated | relid=0 | w=28
  4474. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic anticipation occurs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic anticipation occurs | rel=r_associated | relid=0 | w=28
  4475. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 604559)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 604559) | rel=r_associated | relid=0 | w=28
  4476. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 606215)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 606215) | rel=r_associated | relid=0 | w=28
  4477. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=28
  4478. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see ofc1, 119530)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see ofc1, 119530) | rel=r_associated | relid=0 | w=28
  4479. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see rmd1, 600332)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see rmd1, 600332) | rel=r_associated | relid=0 | w=28
  4480. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see, e.g., 600795, 105550)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., 600795, 105550) | rel=r_associated | relid=0 | w=28
  4481. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  4482. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | rel=r_associated | relid=0 | w=28
  4483. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see aprm2 (610422)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see aprm2 (610422) | rel=r_associated | relid=0 | w=28
  4484. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | rel=r_associated | relid=0 | w=28
  4485. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see bos2 (120502) and bos3 (608389)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | rel=r_associated | relid=0 | w=28
  4486. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see cild1 (244400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see cild1 (244400) | rel=r_associated | relid=0 | w=28
  4487. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see lgmd2a (253600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see lgmd2a (253600) | rel=r_associated | relid=0 | w=28
  4488. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4489. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:gms is goniodysgenesis, mental deficiency, and short stature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gms is goniodysgenesis, mental deficiency, and short stature | rel=r_associated | relid=0 | w=28
  4490. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:gonadal and somatic mosaicism reported in parent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=28
  4491. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:good response to vitamin d treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to vitamin d treatment | rel=r_associated | relid=0 | w=28
  4492. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:gradual progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gradual progression | rel=r_associated | relid=0 | w=28
  4493. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:group c is relatively benign
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:group c is relatively benign | rel=r_associated | relid=0 | w=28
  4494. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hair phenotype present at birth and involves entire scalp region
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hair phenotype present at birth and involves entire scalp region | rel=r_associated | relid=0 | w=28
  4495. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:headache duration 4-72 hours
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:headache duration 4-72 hours | rel=r_associated | relid=0 | w=28
  4496. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:health insurance plan benefits comment:finding:point in time:^patient:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | rel=r_associated | relid=0 | w=28
  4497. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hearing loss is variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss is variable | rel=r_associated | relid=0 | w=28
  4498. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hearing loss may be stable or progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss may be stable or progressive | rel=r_associated | relid=0 | w=28
  4499. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | rel=r_associated | relid=0 | w=28
  4500. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | rel=r_associated | relid=0 | w=28
  4501. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:heterozygous carriers have an increased risk of metabolic dysfunction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous carriers have an increased risk of metabolic dysfunction | rel=r_associated | relid=0 | w=28
  4502. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:heterozygous females may have gout and/or sensorineural deafness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous females may have gout and/or sensorineural deafness | rel=r_associated | relid=0 | w=28
  4503. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:heterozygous mutation carriers may have late-onset cardiac arrhythmias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | rel=r_associated | relid=0 | w=28
  4504. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:heterozygous mutation carriers may have late-onset of mild symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=28
  4505. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:high frequency in southern india (7% of all epilepsies)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in southern india (7% of all epilepsies) | rel=r_associated | relid=0 | w=28
  4506. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:high frequency seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency seizures | rel=r_associated | relid=0 | w=28
  4507. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:highly variable age at onset (range 9 to 69 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable age at onset (range 9 to 69 years) | rel=r_associated | relid=0 | w=28
  4508. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:highly variable age at onset (range childhood to late adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=28
  4509. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:highly variable intrafamilial severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable intrafamilial severity | rel=r_associated | relid=0 | w=28
  4510. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:highly variable pathologic phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable pathologic phenotype | rel=r_associated | relid=0 | w=28
  4511. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype, some adults may be asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=28
  4512. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | rel=r_associated | relid=0 | w=28
  4513. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hyperkeratosis often present at birth but may appear later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=28
  4514. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hyperlipidemia may be partially responsive to fat-restricted diet
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperlipidemia may be partially responsive to fat-restricted diet | rel=r_associated | relid=0 | w=28
  4515. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:hyperpigmented patches increased in size and number with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperpigmented patches increased in size and number with age | rel=r_associated | relid=0 | w=28
  4516. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4517. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:incidence - 1/16,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=28
  4518. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 10,000 to 1 in 20,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=28
  4519. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | rel=r_associated | relid=0 | w=28
  4520. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 6,000 males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 6,000 males | rel=r_associated | relid=0 | w=28
  4521. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:incidence ranges from 1 in 238,095 to 1 in 300,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | rel=r_associated | relid=0 | w=28
  4522. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:increased frequency in individuals of asian descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in individuals of asian descent | rel=r_associated | relid=0 | w=28
  4523. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:increased frequency in persian jews (1:1,300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in persian jews (1:1,300) | rel=r_associated | relid=0 | w=28
  4524. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | rel=r_associated | relid=0 | w=28
  4525. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:increased prevalence in the french-canadian population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased prevalence in the french-canadian population | rel=r_associated | relid=0 | w=28
  4526. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | rel=r_associated | relid=0 | w=28
  4527. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:increased susceptibility to multiple carcinomas
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=28
  4528. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:increased tendency to chromosomal nondisjunction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased tendency to chromosomal nondisjunction | rel=r_associated | relid=0 | w=28
  4529. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:infantile onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile onset | rel=r_associated | relid=0 | w=28
  4530. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:infantile onset (in 1 patient)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile onset (in 1 patient) | rel=r_associated | relid=0 | w=28
  4531. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:infantile, late-infantile, juvenile, and adult onset have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=28
  4532. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:infants are stillborn or die before age 1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infants are stillborn or die before age 1 | rel=r_associated | relid=0 | w=28
  4533. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:initial development may appear normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=28
  4534. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | rel=r_associated | relid=0 | w=28
  4535. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:jbts shows autosomal dominant inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:jbts shows autosomal dominant inheritance | rel=r_associated | relid=0 | w=28
  4536. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:lack of treatment results in early death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=28
  4537. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:late infantile form has onset between 19 months and 4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late infantile form has onset between 19 months and 4 years | rel=r_associated | relid=0 | w=28
  4538. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:later onset associated with milder severity has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset associated with milder severity has been reported | rel=r_associated | relid=0 | w=28
  4539. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=28
  4540. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:left side involvement associated with serious cardiac defect
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:left side involvement associated with serious cardiac defect | rel=r_associated | relid=0 | w=28
  4541. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4542. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:lesions appear in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions appear in infancy or early childhood | rel=r_associated | relid=0 | w=28
  4543. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:life-threatening in infancy due to sepsis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:life-threatening in infancy due to sepsis | rel=r_associated | relid=0 | w=28
  4544. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:limb malformations are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=28
  4545. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:linked to 10q24 trisomy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:linked to 10q24 trisomy | rel=r_associated | relid=0 | w=28
  4546. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:liver involvement can range from mild to severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liver involvement can range from mild to severe | rel=r_associated | relid=0 | w=28
  4547. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | rel=r_associated | relid=0 | w=28
  4548. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:loss of ambulation within 10 years of onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss of ambulation within 10 years of onset | rel=r_associated | relid=0 | w=28
  4549. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:lymphedema occurs in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lymphedema occurs in childhood | rel=r_associated | relid=0 | w=28
  4550. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:major fluid shifts may occur in severe cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=28
  4551. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:majority die in neonatal period secondary to respiratory insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=28
  4552. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:majority of cases in the afrikaner population of south africa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases in the afrikaner population of south africa | rel=r_associated | relid=0 | w=28
  4553. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:majority of eec cases appear to be secondary to tp63 (603273) mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | rel=r_associated | relid=0 | w=28
  4554. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:males mores severely affected than females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:males mores severely affected than females | rel=r_associated | relid=0 | w=28
  4555. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:manifestations present in second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:manifestations present in second decade of life | rel=r_associated | relid=0 | w=28
  4556. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:many patients are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients are asymptomatic | rel=r_associated | relid=0 | w=28
  4557. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:many patients become wheelchair-bound later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients become wheelchair-bound later in life | rel=r_associated | relid=0 | w=28
  4558. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | rel=r_associated | relid=0 | w=28
  4559. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:may be seen with other forms of cancer in a family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be seen with other forms of cancer in a family | rel=r_associated | relid=0 | w=28
  4560. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:may regress in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may regress in adulthood | rel=r_associated | relid=0 | w=28
  4561. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:mean age at onset 28 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=28
  4562. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:mean age of diagnosis of renal cell carcinoma is 46 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of diagnosis of renal cell carcinoma is 46 years | rel=r_associated | relid=0 | w=28
  4563. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:mean age of onset 18 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 18 years | rel=r_associated | relid=0 | w=28
  4564. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:mean survival 5 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=28
  4565. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:mecp2 mutations are those found in females with rett syndrome (312750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mecp2 mutations are those found in females with rett syndrome (312750) | rel=r_associated | relid=0 | w=28
  4566. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:median age at onset is 21 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age at onset is 21 years | rel=r_associated | relid=0 | w=28
  4567. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:meiotic origin >95% maternal, mostly meiosis i
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:meiotic origin >95% maternal, mostly meiosis i | rel=r_associated | relid=0 | w=28
  4568. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:metabolic rate^resting:engrat:pt:^patient:qn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:metabolic rate^resting:engrat:pt:^patient:qn | rel=r_associated | relid=0 | w=28
  4569. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | rel=r_associated | relid=0 | w=28
  4570. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:minimum duplication includes bhlha9 (615416)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:minimum duplication includes bhlha9 (615416) | rel=r_associated | relid=0 | w=28
  4571. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:more common in men (9:1 male:female ratio)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in men (9:1 male:female ratio) | rel=r_associated | relid=0 | w=28
  4572. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most carrier females have mild mental retardation and subtle facial changes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most carrier females have mild mental retardation and subtle facial changes | rel=r_associated | relid=0 | w=28
  4573. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most cases due to de novo mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases due to de novo mutation | rel=r_associated | relid=0 | w=28
  4574. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most frequently affected joints - hands (98%) and feet (88%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most frequently affected joints - hands (98%) and feet (88%) | rel=r_associated | relid=0 | w=28
  4575. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most have onset in first or second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most have onset in first or second decade | rel=r_associated | relid=0 | w=28
  4576. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most individuals are wheelchair-bound or bedridden by adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most individuals are wheelchair-bound or bedridden by adolescence | rel=r_associated | relid=0 | w=28
  4577. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most patients die in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die in infancy | rel=r_associated | relid=0 | w=28
  4578. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  4579. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most patients have contiguous gene deletion syndrome involving xp22
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients have contiguous gene deletion syndrome involving xp22 | rel=r_associated | relid=0 | w=28
  4580. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most patients require liver transplant in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients require liver transplant in childhood | rel=r_associated | relid=0 | w=28
  4581. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most remit by 2 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most remit by 2 months | rel=r_associated | relid=0 | w=28
  4582. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:most reported cases come from the island of mauritius or nearby islands
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most reported cases come from the island of mauritius or nearby islands | rel=r_associated | relid=0 | w=28
  4583. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:movements worsened by anxiety
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:movements worsened by anxiety | rel=r_associated | relid=0 | w=28
  4584. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:mucocutaneous immunodeficiency syndrome may be prominent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mucocutaneous immunodeficiency syndrome may be prominent | rel=r_associated | relid=0 | w=28
  4585. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4586. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:neonatal onset of nephrotic syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal onset of nephrotic syndrome | rel=r_associated | relid=0 | w=28
  4587. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | rel=r_associated | relid=0 | w=28
  4588. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | rel=r_associated | relid=0 | w=28
  4589. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:nine patients have been reported in detail (as of 14 june 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nine patients have been reported in detail (as of 14 june 2011) | rel=r_associated | relid=0 | w=28
  4590. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:no abnormalities of skin, hair, teeth, or bones
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no abnormalities of skin, hair, teeth, or bones | rel=r_associated | relid=0 | w=28
  4591. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:no chronic or permanent liver damage
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no chronic or permanent liver damage | rel=r_associated | relid=0 | w=28
  4592. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:no skin abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no skin abnormalities | rel=r_associated | relid=0 | w=28
  4593. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:normal development until onset of seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal development until onset of seizures | rel=r_associated | relid=0 | w=28
  4594. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:normal growth and development after 1 year of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal growth and development after 1 year of age | rel=r_associated | relid=0 | w=28
  4595. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:normal in neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal in neonatal period | rel=r_associated | relid=0 | w=28
  4596. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | rel=r_associated | relid=0 | w=28
  4597. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:occurs at age 20-50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs at age 20-50 years | rel=r_associated | relid=0 | w=28
  4598. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:often diagnosed between ages 3-4 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often diagnosed between ages 3-4 months | rel=r_associated | relid=0 | w=28
  4599. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  4600. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one consanguineous arab israeli family has been reported (last curated february, 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | rel=r_associated | relid=0 | w=28
  4601. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one consanguineous family has been reported (last curated december 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family has been reported (last curated december 2010) | rel=r_associated | relid=0 | w=28
  4602. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one consanguineous family with a recessive mutation has been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=28
  4603. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one consanguineous pakistani family has been reported (last curated june 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been reported (last curated june 2012) | rel=r_associated | relid=0 | w=28
  4604. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family described (last curated october 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family described (last curated october 2013) | rel=r_associated | relid=0 | w=28
  4605. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of april 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=28
  4606. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of august 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of august 2010) | rel=r_associated | relid=0 | w=28
  4607. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated august 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated august 2013) | rel=r_associated | relid=0 | w=28
  4608. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated july 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=28
  4609. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=28
  4610. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family reported (as of november 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (as of november 2011) | rel=r_associated | relid=0 | w=28
  4611. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family reported (last curated july 2008)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported (last curated july 2008) | rel=r_associated | relid=0 | w=28
  4612. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | rel=r_associated | relid=0 | w=28
  4613. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one family with a fatal subacute encephalopathy has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with a fatal subacute encephalopathy has been reported | rel=r_associated | relid=0 | w=28
  4614. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one pakistani family has been reported (last curated october 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one pakistani family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=28
  4615. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one pakistani reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one pakistani reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  4616. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | rel=r_associated | relid=0 | w=28
  4617. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4618. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=28
  4619. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=28
  4620. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=28
  4621. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=28
  4622. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4623. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient reported with col3a1 mutation (120180.0020)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient reported with col3a1 mutation (120180.0020) | rel=r_associated | relid=0 | w=28
  4624. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:one patient was asymptomatic and detected by neonatal screening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient was asymptomatic and detected by neonatal screening | rel=r_associated | relid=0 | w=28
  4625. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:only apparent in patients taking eculizumab
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only apparent in patients taking eculizumab | rel=r_associated | relid=0 | w=28
  4626. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:only female patients reported (last curated october 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:only female patients reported (last curated october 2013) | rel=r_associated | relid=0 | w=28
  4627. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset 13-15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 13-15 years | rel=r_associated | relid=0 | w=28
  4628. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset 23 to 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 23 to 30 years | rel=r_associated | relid=0 | w=28
  4629. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset at birth or in first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at birth or in first months of life | rel=r_associated | relid=0 | w=28
  4630. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset before adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before adolescence | rel=r_associated | relid=0 | w=28
  4631. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset before age 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before age 20 years | rel=r_associated | relid=0 | w=28
  4632. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset between age 4 to 7 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between age 4 to 7 months | rel=r_associated | relid=0 | w=28
  4633. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset between ages 1 to 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between ages 1 to 3 years | rel=r_associated | relid=0 | w=28
  4634. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset between ages 10 and 25 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between ages 10 and 25 years | rel=r_associated | relid=0 | w=28
  4635. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset between ages 16-55
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between ages 16-55 | rel=r_associated | relid=0 | w=28
  4636. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in 1st to 3rd decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in 1st to 3rd decade of life | rel=r_associated | relid=0 | w=28
  4637. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in adolescence | rel=r_associated | relid=0 | w=28
  4638. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in childhood (6-7 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (6-7 years) | rel=r_associated | relid=0 | w=28
  4639. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in childhood (mean 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (mean 6 years) | rel=r_associated | relid=0 | w=28
  4640. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in childhood (range 4 to 12 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range 4 to 12 years) | rel=r_associated | relid=0 | w=28
  4641. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in childhood or adolescence (median age of 9 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or adolescence (median age of 9 years) | rel=r_associated | relid=0 | w=28
  4642. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in childhood or early adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or early adolescence | rel=r_associated | relid=0 | w=28
  4643. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in childhood or teenage years (7 to 16 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood or teenage years (7 to 16 years) | rel=r_associated | relid=0 | w=28
  4644. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in childhood, adolescence, and adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood, adolescence, and adulthood | rel=r_associated | relid=0 | w=28
  4645. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in early childhood after initial normal development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood after initial normal development | rel=r_associated | relid=0 | w=28
  4646. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in fifth or sixth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in fifth or sixth decade | rel=r_associated | relid=0 | w=28
  4647. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in first 2 decades (range 6 to 15 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first 2 decades (range 6 to 15 years) | rel=r_associated | relid=0 | w=28
  4648. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in first 8 weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first 8 weeks of life | rel=r_associated | relid=0 | w=28
  4649. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in first days of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first days of life | rel=r_associated | relid=0 | w=28
  4650. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in first decade (as early as infancy in some)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=28
  4651. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in first decade (birth to 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade (birth to 6 years) | rel=r_associated | relid=0 | w=28
  4652. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in first decade after normal early development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=28
  4653. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in first or second decade (range 4 to 13 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first or second decade (range 4 to 13 years) | rel=r_associated | relid=0 | w=28
  4654. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in infancy up to 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy up to 3 years | rel=r_associated | relid=0 | w=28
  4655. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in second decade, but sometimes earlier
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second decade, but sometimes earlier | rel=r_associated | relid=0 | w=28
  4656. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in second to third decades (postlingual)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second to third decades (postlingual) | rel=r_associated | relid=0 | w=28
  4657. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in teenage or young adult years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in teenage or young adult years | rel=r_associated | relid=0 | w=28
  4658. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in teenage years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in teenage years | rel=r_associated | relid=0 | w=28
  4659. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset in the neonatal period (0-38 days)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the neonatal period (0-38 days) | rel=r_associated | relid=0 | w=28
  4660. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of acanthosis nigricans in childhood or by puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of acanthosis nigricans in childhood or by puberty | rel=r_associated | relid=0 | w=28
  4661. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of achalasia in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of achalasia in infancy or early childhood | rel=r_associated | relid=0 | w=28
  4662. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of ataxia in the fifties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of ataxia in the fifties | rel=r_associated | relid=0 | w=28
  4663. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of choreoathetosis in childhood or young adult (6-23 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of choreoathetosis in childhood or young adult (6-23 years) | rel=r_associated | relid=0 | w=28
  4664. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of cough in early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of cough in early adulthood | rel=r_associated | relid=0 | w=28
  4665. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of diabetes in neonatal period/ early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of diabetes in neonatal period/ early infancy | rel=r_associated | relid=0 | w=28
  4666. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of febrile seizures typically between 6 months and 6 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of febrile seizures typically between 6 months and 6 years of age | rel=r_associated | relid=0 | w=28
  4667. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of insulin resistance may occur in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of insulin resistance may occur in childhood | rel=r_associated | relid=0 | w=28
  4668. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of mental impairment in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of mental impairment in early childhood | rel=r_associated | relid=0 | w=28
  4669. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of optic atrophy in infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of optic atrophy in infancy or early childhood | rel=r_associated | relid=0 | w=28
  4670. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of other symptoms in adolescence or early adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of other symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=28
  4671. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | rel=r_associated | relid=0 | w=28
  4672. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of peripheral neuropathy ranges from childhood to mid-adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | rel=r_associated | relid=0 | w=28
  4673. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of seizures in first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures in first months of life | rel=r_associated | relid=0 | w=28
  4674. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset of symptoms 2-6 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms 2-6 years of age | rel=r_associated | relid=0 | w=28
  4675. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset ranges from childhood to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=28
  4676. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset soon after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset soon after birth | rel=r_associated | relid=0 | w=28
  4677. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset typically in childhood although onset in late adolescence or early adulthood has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | rel=r_associated | relid=0 | w=28
  4678. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood (range infancy to late childhood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood (range infancy to late childhood) | rel=r_associated | relid=0 | w=28
  4679. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood or adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=28
  4680. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset usually in early adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in early adolescence | rel=r_associated | relid=0 | w=28
  4681. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset usually in first month of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in first month of life | rel=r_associated | relid=0 | w=28
  4682. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset usually in infancy or childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in infancy or childhood | rel=r_associated | relid=0 | w=28
  4683. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:onset usually within first weeks of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually within first weeks of life | rel=r_associated | relid=0 | w=28
  4684. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | rel=r_associated | relid=0 | w=28
  4685. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> 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:two unrelated families have been reported (last curated february 2016) | 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=28
  4686. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:overlapping features of digeorge syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overlapping features of digeorge syndrome | rel=r_associated | relid=0 | w=28
  4687. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:pain is noted to feel cold
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pain is noted to feel cold | rel=r_associated | relid=0 | w=28
  4688. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | rel=r_associated | relid=0 | w=28
  4689. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:partial factor viii deficiency in heterozygous carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:partial factor viii deficiency in heterozygous carriers | rel=r_associated | relid=0 | w=28
  4690. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:paternal age effect
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:paternal age effect | rel=r_associated | relid=0 | w=28
  4691. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:pathogenic alleles contain 75-11,000 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pathogenic alleles contain 75-11,000 repeats | rel=r_associated | relid=0 | w=28
  4692. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patient satisfaction with healthcare delivery:score:pt:^patient:qn
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | rel=r_associated | relid=0 | w=28
  4693. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients are prone to impaired thermoregulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are prone to impaired thermoregulation | rel=r_associated | relid=0 | w=28
  4694. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients become wheelchair-bound about 10 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients become wheelchair-bound about 10 years after onset | rel=r_associated | relid=0 | w=28
  4695. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients do not have clinical hypothyroidism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients do not have clinical hypothyroidism | rel=r_associated | relid=0 | w=28
  4696. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4697. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients may become totally dependent for all activities of daily living
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may become totally dependent for all activities of daily living | rel=r_associated | relid=0 | w=28
  4698. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients may require implantable cardioverter defibrillators
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may require implantable cardioverter defibrillators | rel=r_associated | relid=0 | w=28
  4699. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients need lifelong total parenteral nutrition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=28
  4700. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients older than 60 years have severe degenerative arthritis in the feet
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients older than 60 years have severe degenerative arthritis in the feet | rel=r_associated | relid=0 | w=28
  4701. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients present at birth with respiratory distress or poor head control
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients present at birth with respiratory distress or poor head control | rel=r_associated | relid=0 | w=28
  4702. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients with mutation in the nhlrc1 gene have slightly longer survival
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with mutation in the nhlrc1 gene have slightly longer survival | rel=r_associated | relid=0 | w=28
  4703. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:patients younger than 30 years complain only that they cannot run fast
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients younger than 30 years complain only that they cannot run fast | rel=r_associated | relid=0 | w=28
  4704. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:peak age of onset in second decade (range childhood to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:peak age of onset in second decade (range childhood to 50 years) | rel=r_associated | relid=0 | w=28
  4705. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:peo is not always present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:peo is not always present | rel=r_associated | relid=0 | w=28
  4706. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:perinatal lethal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:perinatal lethal | rel=r_associated | relid=0 | w=28
  4707. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:periodontium is less severely affected than in papillon-lefevre syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:periodontium is less severely affected than in papillon-lefevre syndrome | rel=r_associated | relid=0 | w=28
  4708. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=28
  4709. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:phenotypic overlap with currarino syndrome (176450)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with currarino syndrome (176450) | rel=r_associated | relid=0 | w=28
  4710. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=28
  4711. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:pigmentary abnormalities apparent at birth or in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pigmentary abnormalities apparent at birth or in infancy | rel=r_associated | relid=0 | w=28
  4712. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | rel=r_associated | relid=0 | w=28
  4713. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:polyhydramnios
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:polyhydramnios | rel=r_associated | relid=0 | w=28
  4714. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:poor or no response to glucocorticoid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:poor or no response to glucocorticoid treatment | rel=r_associated | relid=0 | w=28
  4715. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:positive family history in 12-33% patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:positive family history in 12-33% patients | rel=r_associated | relid=0 | w=28
  4716. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:possible autosomal dominant (165199) and autosomal recessive (258650) forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | rel=r_associated | relid=0 | w=28
  4717. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:postlingual onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:postlingual onset | rel=r_associated | relid=0 | w=28
  4718. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prenatal diagnosis by ultrasound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal diagnosis by ultrasound | rel=r_associated | relid=0 | w=28
  4719. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prenatal onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prenatal onset | rel=r_associated | relid=0 | w=28
  4720. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:presentation after 6 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation after 6 months | rel=r_associated | relid=0 | w=28
  4721. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:presumed autosomal dominant with incomplete penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presumed autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=28
  4722. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalence in caucasians is 1 in 1,000,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence in caucasians is 1 in 1,000,000 | rel=r_associated | relid=0 | w=28
  4723. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalence is estimated to be 1 in 1,100,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence is estimated to be 1 in 1,100,000 | rel=r_associated | relid=0 | w=28
  4724. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 10,000 caucasians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 10,000 caucasians | rel=r_associated | relid=0 | w=28
  4725. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 150,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 150,000 | rel=r_associated | relid=0 | w=28
  4726. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 200,000 to 1 in 800,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 200,000 to 1 in 800,000 | rel=r_associated | relid=0 | w=28
  4727. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 40,000 among caucasians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 40,000 among caucasians | rel=r_associated | relid=0 | w=28
  4728. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalent in arabic, turkish, armenian, and sephardic jewish populations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | rel=r_associated | relid=0 | w=28
  4729. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prevalent in newfoundland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in newfoundland | rel=r_associated | relid=0 | w=28
  4730. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progression in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progression in adulthood | rel=r_associated | relid=0 | w=28
  4731. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progression more frequent in men than women
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progression more frequent in men than women | rel=r_associated | relid=0 | w=28
  4732. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progression to profound hearing loss affecting all frequencies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progression to profound hearing loss affecting all frequencies | rel=r_associated | relid=0 | w=28
  4733. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive | rel=r_associated | relid=0 | w=28
  4734. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progressive disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disorder | rel=r_associated | relid=0 | w=28
  4735. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progressive disorder that may become stable in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disorder that may become stable in young adulthood | rel=r_associated | relid=0 | w=28
  4736. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progressive or slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive or slowly progressive | rel=r_associated | relid=0 | w=28
  4737. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:progressive, with full manifestations at puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive, with full manifestations at puberty | rel=r_associated | relid=0 | w=28
  4738. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:prominent psychiatric symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prominent psychiatric symptoms | rel=r_associated | relid=0 | w=28
  4739. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:pyridoxine responsive individuals often have milder manifestations than those not responsive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | rel=r_associated | relid=0 | w=28
  4740. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:quinidine therapy may be effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=28
  4741. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:rapidly progressive deterioration (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive deterioration (in some patients) | rel=r_associated | relid=0 | w=28
  4742. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:recurrent bacterial infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent bacterial infection | rel=r_associated | relid=0 | w=28
  4743. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:recurrent bacterial infections with onset in the first or second year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent bacterial infections with onset in the first or second year of life | rel=r_associated | relid=0 | w=28
  4744. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | rel=r_associated | relid=0 | w=28
  4745. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:repeat tracts may expand as patient ages (somatic instability)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:repeat tracts may expand as patient ages (somatic instability) | rel=r_associated | relid=0 | w=28
  4746. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:reported in the ohio amish anabaptist community
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in the ohio amish anabaptist community | rel=r_associated | relid=0 | w=28
  4747. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:resembles pseudo-torch syndrome (251290)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:resembles pseudo-torch syndrome (251290) | rel=r_associated | relid=0 | w=28
  4748. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:responsive to vitamin b12 therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=28
  4749. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:secretory diarrhea begins prenatally
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:secretory diarrhea begins prenatally | rel=r_associated | relid=0 | w=28
  4750. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:see also autosomal dominant hypophosphatemic rickets (193100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant hypophosphatemic rickets (193100) | rel=r_associated | relid=0 | w=28
  4751. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:see also autosomal form, 146450, and another x-linked form, 300758
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal form, 146450, and another x-linked form, 300758 | rel=r_associated | relid=0 | w=28
  4752. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:see also autosomal recessive form (255700), which is more common and more severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal recessive form (255700), which is more common and more severe | rel=r_associated | relid=0 | w=28
  4753. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:see also perinatal lethal variant (608013), which is more severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also perinatal lethal variant (608013), which is more severe | rel=r_associated | relid=0 | w=28
  4754. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:see also x-linked (310400) and autosomal dominant (160150) forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also x-linked (310400) and autosomal dominant (160150) forms | rel=r_associated | relid=0 | w=28
  4755. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:see ebn1 (121200) for an autosomal dominant form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see ebn1 (121200) for an autosomal dominant form | rel=r_associated | relid=0 | w=28
  4756. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) | rel=r_associated | relid=0 | w=28
  4757. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:segmental distribution often affecting 1 limb
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:segmental distribution often affecting 1 limb | rel=r_associated | relid=0 | w=28
  4758. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:seizures are sensitive to hyperventilation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are sensitive to hyperventilation | rel=r_associated | relid=0 | w=28
  4759. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:seizures may remit in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may remit in adolescence | rel=r_associated | relid=0 | w=28
  4760. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:seizures precipitated by fatigue or alcohol
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=28
  4761. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4762. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  4763. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4764. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4765. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4766. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28
  4767. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4768. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4769. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4770. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:severe clinical course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe clinical course | rel=r_associated | relid=0 | w=28
  4771. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:severe heat intolerance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe heat intolerance | rel=r_associated | relid=0 | w=28
  4772. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:sex ratio of 4-4.5 males to 1 female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sex ratio of 4-4.5 males to 1 female | rel=r_associated | relid=0 | w=28
  4773. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:similar phenotype to x-linked hypophosphatemia (xlh, 307800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | rel=r_associated | relid=0 | w=28
  4774. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:six patients have been reported (5/18/2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:six patients have been reported (5/18/2011) | rel=r_associated | relid=0 | w=28
  4775. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:six patients have been reported (as of july 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:six patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=28
  4776. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | rel=r_associated | relid=0 | w=28
  4777. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:skin lesions manifest in the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions manifest in the first year of life | rel=r_associated | relid=0 | w=28
  4778. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | rel=r_associated | relid=0 | w=28
  4779. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:slow progression without marked disability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slow progression without marked disability | rel=r_associated | relid=0 | w=28
  4780. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:slow, progressive growth, then stable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slow, progressive growth, then stable | rel=r_associated | relid=0 | w=28
  4781. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:slowly or non-progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slowly or non-progressive | rel=r_associated | relid=0 | w=28
  4782. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:slowly progressive or nonprogressive course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slowly progressive or nonprogressive course | rel=r_associated | relid=0 | w=28
  4783. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some features may be variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features may be variable | rel=r_associated | relid=0 | w=28
  4784. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some more severely affected patients may die in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some more severely affected patients may die in infancy | rel=r_associated | relid=0 | w=28
  4785. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients become bedridden
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients become bedridden | rel=r_associated | relid=0 | w=28
  4786. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients have additional neurologic involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have additional neurologic involvement | rel=r_associated | relid=0 | w=28
  4787. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  4788. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients have persistence of seizures to adulthood, but then show remission
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have persistence of seizures to adulthood, but then show remission | rel=r_associated | relid=0 | w=28
  4789. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients have resolution of symptoms in first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have resolution of symptoms in first year of life | rel=r_associated | relid=0 | w=28
  4790. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients may benefit from coenzyme q10 treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may benefit from coenzyme q10 treatment | rel=r_associated | relid=0 | w=28
  4791. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients may lose independent ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may lose independent ambulation | rel=r_associated | relid=0 | w=28
  4792. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients show significant clinical improvement with riboflavin supplementation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show significant clinical improvement with riboflavin supplementation | rel=r_associated | relid=0 | w=28
  4793. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | rel=r_associated | relid=0 | w=28
  4794. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> 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:two unrelated families have been reported (last curated february 2016) | 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=28
  4795. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:spasticity occurs before parkinsonism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spasticity occurs before parkinsonism | rel=r_associated | relid=0 | w=28
  4796. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:subset of patients have leigh syndrome (256000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subset of patients have leigh syndrome (256000) | rel=r_associated | relid=0 | w=28
  4797. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:sudden death due to cardiac arrhythmia may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death due to cardiac arrhythmia may occur | rel=r_associated | relid=0 | w=28
  4798. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:sudden death secondary to impaction of medulla oblongata
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death secondary to impaction of medulla oblongata | rel=r_associated | relid=0 | w=28
  4799. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:sudden death within first days of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death within first days of life | rel=r_associated | relid=0 | w=28
  4800. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4801. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:surviving males are postzygotic mosaic for ebp mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=28
  4802. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:swelling starts to fade by age 30 years and gradually becomes unremarkable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | rel=r_associated | relid=0 | w=28
  4803. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:symptoms improve following sleep
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms improve following sleep | rel=r_associated | relid=0 | w=28
  4804. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:symptoms occur only during sleep
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms occur only during sleep | rel=r_associated | relid=0 | w=28
  4805. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:symptoms present as acute metabolic and clinical decompensation associated with infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms present as acute metabolic and clinical decompensation associated with infection | rel=r_associated | relid=0 | w=28
  4806. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:symptoms relieved by progesterone antagonist (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms relieved by progesterone antagonist (in some patients) | rel=r_associated | relid=0 | w=28
  4807. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:symptoms worsen with fatigue and exercise
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms worsen with fatigue and exercise | rel=r_associated | relid=0 | w=28
  4808. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:syncope
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:syncope | rel=r_associated | relid=0 | w=28
  4809. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:systemic granulomatous disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:systemic granulomatous disease | rel=r_associated | relid=0 | w=28
  4810. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | rel=r_associated | relid=0 | w=28
  4811. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:thiamine supplementation may be beneficial
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:thiamine supplementation may be beneficial | rel=r_associated | relid=0 | w=28
  4812. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:thin, fine hair described in few individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:thin, fine hair described in few individuals | rel=r_associated | relid=0 | w=28
  4813. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:this patient died at age 8 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:this patient died at age 8 months | rel=r_associated | relid=0 | w=28
  4814. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:thoracic abnormalities tend to improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:thoracic abnormalities tend to improve with age | rel=r_associated | relid=0 | w=28
  4815. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three families described (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families described (last curated january 2014) | rel=r_associated | relid=0 | w=28
  4816. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three patients from 1 mexican family has been reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients from 1 mexican family has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=28
  4817. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three patients have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=28
  4818. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4819. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three unrelated families have been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
  4820. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three unrelated families have been reported (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=28
  4821. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three unrelated families have been reported (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=28
  4822. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:three unrelated french families have been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated french families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=28
  4823. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | rel=r_associated | relid=0 | w=28
  4824. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:triggers are variable, even within a family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:triggers are variable, even within a family | rel=r_associated | relid=0 | w=28
  4825. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4826. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:tumors may show spontaneous regression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tumors may show spontaneous regression | rel=r_associated | relid=0 | w=28
  4827. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:tumors usually develop between 40 and 60 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tumors usually develop between 40 and 60 years of age | rel=r_associated | relid=0 | w=28
  4828. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two families have been reported (last curated december 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=28
  4829. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  4830. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4831. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two of 6 patients became wheelchair-bound by age 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two of 6 patients became wheelchair-bound by age 20 years | rel=r_associated | relid=0 | w=28
  4832. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two patients required liver transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients required liver transplantation | rel=r_associated | relid=0 | w=28
  4833. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two sisters have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sisters have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=28
  4834. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two subtypes, episodic (85% of patients) and chronic (15%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two subtypes, episodic (85% of patients) and chronic (15%) | rel=r_associated | relid=0 | w=28
  4835. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated boys have been reported (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated boys have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=28
  4836. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=28
  4837. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated may 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated may 2014) | rel=r_associated | relid=0 | w=28
  4838. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated girls reported (last curated october 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated girls reported (last curated october 2013) | rel=r_associated | relid=0 | w=28
  4839. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (as of august 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=28
  4840. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
  4841. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=28
  4842. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated june 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=28
  4843. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:type 2a is characterized by deficiency of high molecular weight monomers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2a is characterized by deficiency of high molecular weight monomers | rel=r_associated | relid=0 | w=28
  4844. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:type 2cb is characterized by defective binding affinity for collagen types i and iii
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | rel=r_associated | relid=0 | w=28
  4845. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:typical onset in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:typical onset in adulthood | rel=r_associated | relid=0 | w=28
  4846. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:up to 50% of patients may have various additional congenital anomalies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:up to 50% of patients may have various additional congenital anomalies | rel=r_associated | relid=0 | w=28
  4847. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:upper limb involvement in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:upper limb involvement in first decade | rel=r_associated | relid=0 | w=28
  4848. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:upper limb involvement may occur later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:upper limb involvement may occur later | rel=r_associated | relid=0 | w=28
  4849. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4850. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:usually occurs in children younger than 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually occurs in children younger than 5 years | rel=r_associated | relid=0 | w=28
  4851. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:usually presents in third to fourth decade (but onset can range from childhood to elderly)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | rel=r_associated | relid=0 | w=28
  4852. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:usually sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually sporadic | rel=r_associated | relid=0 | w=28
  4853. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset | rel=r_associated | relid=0 | w=28
  4854. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (birth to adolescence)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (birth to adolescence) | rel=r_associated | relid=0 | w=28
  4855. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (birth to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (birth to adult) | rel=r_associated | relid=0 | w=28
  4856. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 14 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 14 to 50 years) | rel=r_associated | relid=0 | w=28
  4857. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 2 to 48 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 2 to 48 years) | rel=r_associated | relid=0 | w=28
  4858. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range infancy to late adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range infancy to late adulthood) | rel=r_associated | relid=0 | w=28
  4859. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (usually 20 to 30 years of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (usually 20 to 30 years of age) | rel=r_associated | relid=0 | w=28
  4860. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset, but usually in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, but usually in childhood | rel=r_associated | relid=0 | w=28
  4861. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset, from first decade to fourth or fifth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, from first decade to fourth or fifth decade of life | rel=r_associated | relid=0 | w=28
  4862. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age at onset, most often in second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, most often in second decade | rel=r_associated | relid=0 | w=28
  4863. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age of onset (childhood to adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (childhood to adulthood) | rel=r_associated | relid=0 | w=28
  4864. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable age of onset (range 4 months to 45 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (range 4 months to 45 years) | rel=r_associated | relid=0 | w=28
  4865. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable cardiac phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable cardiac phenotype | rel=r_associated | relid=0 | w=28
  4866. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=28
  4867. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable disease severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable disease severity | rel=r_associated | relid=0 | w=28
  4868. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable features and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable features and severity | rel=r_associated | relid=0 | w=28
  4869. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable locations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable locations | rel=r_associated | relid=0 | w=28
  4870. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable penetrance and expressivity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable penetrance and expressivity | rel=r_associated | relid=0 | w=28
  4871. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable phenotype and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype and severity | rel=r_associated | relid=0 | w=28
  4872. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable phenotypic expression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotypic expression | rel=r_associated | relid=0 | w=28
  4873. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable presentation and manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable presentation and manifestations | rel=r_associated | relid=0 | w=28
  4874. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable response to acetylcholinesterase inhibitors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=28
  4875. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable response to vitamin b12 therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable response to vitamin b12 therapy | rel=r_associated | relid=0 | w=28
  4876. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable severity, correlates with age at onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity, correlates with age at onset | rel=r_associated | relid=0 | w=28
  4877. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:variable survival
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable survival | rel=r_associated | relid=0 | w=28
  4878. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:very few patients reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:very few patients reported | rel=r_associated | relid=0 | w=28
  4879. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:warm weather and alcohol are alleviating factors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:warm weather and alcohol are alleviating factors | rel=r_associated | relid=0 | w=28
  4880. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:weakness during pregnancy in some affected females has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=28
  4881. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:wide phenotypic variability and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide phenotypic variability and severity | rel=r_associated | relid=0 | w=28
  4882. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:wide spectrum of severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wide spectrum of severity | rel=r_associated | relid=0 | w=28
  4883. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 28 / 0.651 -> en:women may be mildly affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:women may be mildly affected | rel=r_associated | relid=0 | w=28
  4884. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  4885. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:(1) classic severe (onset of symptoms 4 to 7 days of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | rel=r_associated | relid=0 | w=27
  4886. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:(5) dihydrolipoyl dehydrogenase (e3)-deficient
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | rel=r_associated | relid=0 | w=27
  4887. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:1 patient reported (last curated may 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:1 patient reported (last curated may 2012) | rel=r_associated | relid=0 | w=27
  4888. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:2 patients described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:2 patients described | rel=r_associated | relid=0 | w=27
  4889. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | rel=r_associated | relid=0 | w=27
  4890. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:20% die before age one (usually secondary to renal or laryngeal defects)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:20% die before age one (usually secondary to renal or laryngeal defects) | rel=r_associated | relid=0 | w=27
  4891. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:35% of patients have facial dysmorphism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:35% of patients have facial dysmorphism | rel=r_associated | relid=0 | w=27
  4892. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:40 patients in 16 dominant kindreds reported (as of february 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:40 patients in 16 dominant kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=27
  4893. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | rel=r_associated | relid=0 | w=27
  4894. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:a mutation in the cxorf5 gene has been reported in 1 affected family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a mutation in the cxorf5 gene has been reported in 1 affected family | rel=r_associated | relid=0 | w=27
  4895. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:about half of patients become wheelchair bound after long duration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about half of patients become wheelchair bound after long duration | rel=r_associated | relid=0 | w=27
  4896. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:about half of patients report vestibular symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about half of patients report vestibular symptoms | rel=r_associated | relid=0 | w=27
  4897. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:absence of premature birth, low birthweight, and exposure to oxygen
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:absence of premature birth, low birthweight, and exposure to oxygen | rel=r_associated | relid=0 | w=27
  4898. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:absence seizures show onset between 3.5 and 4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=27
  4899. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:accounts for <2% of patients with alzheimer's disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accounts for <2% of patients with alzheimer's disease | rel=r_associated | relid=0 | w=27
  4900. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:accounts for 30-50% of lymphomas in children
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:accounts for 30-50% of lymphomas in children | rel=r_associated | relid=0 | w=27
  4901. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:acute attacks rarely occur before puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acute attacks rarely occur before puberty | rel=r_associated | relid=0 | w=27
  4902. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:acute episodes decrease with age and disappear
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acute episodes decrease with age and disappear | rel=r_associated | relid=0 | w=27
  4903. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:additional developmental abnormalities may be seen in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:additional developmental abnormalities may be seen in some patients | rel=r_associated | relid=0 | w=27
  4904. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:adult onset (range 40 to 60 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 40 to 60 years) | rel=r_associated | relid=0 | w=27
  4905. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:adult onset (range 45 to 70 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (range 45 to 70 years) | rel=r_associated | relid=0 | w=27
  4906. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:adult onset (second to sixth decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (second to sixth decade) | rel=r_associated | relid=0 | w=27
  4907. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:adult onset (third decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (third decade) | rel=r_associated | relid=0 | w=27
  4908. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:adult onset (wide range of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=27
  4909. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:adults may be asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adults may be asymptomatic | rel=r_associated | relid=0 | w=27
  4910. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:affected females are infertile
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected females are infertile | rel=r_associated | relid=0 | w=27
  4911. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:affected males who survive are secondary to new mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected males who survive are secondary to new mutations | rel=r_associated | relid=0 | w=27
  4912. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:age at menopause:time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at menopause:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
  4913. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:age at onset 14 to 44 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=27
  4914. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:age at onset ranges from early childhood to after age 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset ranges from early childhood to after age 50 years | rel=r_associated | relid=0 | w=27
  4915. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:age of onset 28 to 70 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 28 to 70 years | rel=r_associated | relid=0 | w=27
  4916. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:age of onset 36 to 55 years (mean 47)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 36 to 55 years (mean 47) | rel=r_associated | relid=0 | w=27
  4917. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:aggravated by physical activity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:aggravated by physical activity | rel=r_associated | relid=0 | w=27
  4918. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:all reported cases have occurred de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all reported cases have occurred de novo | rel=r_associated | relid=0 | w=27
  4919. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:all reported patients are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all reported patients are female | rel=r_associated | relid=0 | w=27
  4920. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to adult polyglucosan body disease (263570)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to adult polyglucosan body disease (263570) | rel=r_associated | relid=0 | w=27
  4921. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=27
  4922. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to cmt4a (214400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to cmt4a (214400) | rel=r_associated | relid=0 | w=27
  4923. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | rel=r_associated | relid=0 | w=27
  4924. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | rel=r_associated | relid=0 | w=27
  4925. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | rel=r_associated | relid=0 | w=27
  4926. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | rel=r_associated | relid=0 | w=27
  4927. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to limb-mammary syndrome (lms, 603543)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to limb-mammary syndrome (lms, 603543) | rel=r_associated | relid=0 | w=27
  4928. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to margarita island type of ectodermal dysplasia (225060)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | rel=r_associated | relid=0 | w=27
  4929. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to parkinson disease-1 (park1, 168601)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to parkinson disease-1 (park1, 168601) | rel=r_associated | relid=0 | w=27
  4930. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | rel=r_associated | relid=0 | w=27
  4931. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  4932. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to brachydactyly, type a1 (112500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to brachydactyly, type a1 (112500) | rel=r_associated | relid=0 | w=27
  4933. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to craniometaphyseal dysplasia (123000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to craniometaphyseal dysplasia (123000) | rel=r_associated | relid=0 | w=27
  4934. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to deafness, autosomal recessive 23 (609533)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to deafness, autosomal recessive 23 (609533) | rel=r_associated | relid=0 | w=27
  4935. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to early-onset familial alzheimer disease (ad1, 104300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | rel=r_associated | relid=0 | w=27
  4936. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | rel=r_associated | relid=0 | w=27
  4937. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=27
  4938. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | rel=r_associated | relid=0 | w=27
  4939. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic to pseudoachondroplasia (177170)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to pseudoachondroplasia (177170) | rel=r_associated | relid=0 | w=27
  4940. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic with cone-rod dystrophy 10 (610283)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic with cone-rod dystrophy 10 (610283) | rel=r_associated | relid=0 | w=27
  4941. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:allelic with smith-mccort dysplasia (607326)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic with smith-mccort dysplasia (607326) | rel=r_associated | relid=0 | w=27
  4942. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:ambulation usually not achieved
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ambulation usually not achieved | rel=r_associated | relid=0 | w=27
  4943. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:amelioration with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:amelioration with age | rel=r_associated | relid=0 | w=27
  4944. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:anemia is not responsive to pyridoxine supplementation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:anemia is not responsive to pyridoxine supplementation | rel=r_associated | relid=0 | w=27
  4945. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  4946. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  4947. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | rel=r_associated | relid=0 | w=27
  4948. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:attacks triggered by catabolic stress, such as fever or illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks triggered by catabolic stress, such as fever or illness | rel=r_associated | relid=0 | w=27
  4949. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:atypical affected males, 'cardiac variants' 301500.0005 exist
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:atypical affected males, 'cardiac variants' 301500.0005 exist | rel=r_associated | relid=0 | w=27
  4950. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:autosomal recessive inheritance has been suggested
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance has been suggested | rel=r_associated | relid=0 | w=27
  4951. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:autosomal recessive inheritance in one family (see 603342.0010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive inheritance in one family (see 603342.0010) | rel=r_associated | relid=0 | w=27
  4952. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:average age at onset between 40 and 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=27
  4953. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:average onset 6-10 months (range 3-24)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=27
  4954. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on 1 large swiss german kindred (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 large swiss german kindred (last curated august 2015) | rel=r_associated | relid=0 | w=27
  4955. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on 1 reported family with oca6
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 reported family with oca6 | rel=r_associated | relid=0 | w=27
  4956. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on 2 reported patients (last curated january 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 reported patients (last curated january 2013) | rel=r_associated | relid=0 | w=27
  4957. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on a report of 2 affected male cousins (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on a report of 2 affected male cousins (last curated june 2015) | rel=r_associated | relid=0 | w=27
  4958. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on description of 1 family (last curated april 2006)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on description of 1 family (last curated april 2006) | rel=r_associated | relid=0 | w=27
  4959. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | rel=r_associated | relid=0 | w=27
  4960. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on one large dutch family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=27
  4961. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on one report of a 4-generation family with 4 affected males and 6 affected females
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  4962. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on report of 1 3-generation family (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 3-generation family (last curated november 2014) | rel=r_associated | relid=0 | w=27
  4963. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on report of 1 family with 7 affected members
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 1 family with 7 affected members | rel=r_associated | relid=0 | w=27
  4964. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on report of 3 patients from 2 families (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 3 patients from 2 families (last curated march 2016) | rel=r_associated | relid=0 | w=27
  4965. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on report of 4 patients from 1 family (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=27
  4966. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  4967. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:bone abnormalities improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bone abnormalities improve with age | rel=r_associated | relid=0 | w=27
  4968. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  4969. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:broad-based gait
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:broad-based gait | rel=r_associated | relid=0 | w=27
  4970. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:can also be caused by contiguous gene deletion on chromosome 22q11.2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=27
  4971. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:cardiac features are observed in ~3% of cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiac features are observed in ~3% of cases | rel=r_associated | relid=0 | w=27
  4972. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=27
  4973. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:carrier frequency 1:200,000 in france
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier frequency 1:200,000 in france | rel=r_associated | relid=0 | w=27
  4974. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:carrier frequency 1:700 in bukhara jewish populations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier frequency 1:700 in bukhara jewish populations | rel=r_associated | relid=0 | w=27
  4975. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  4976. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:cataracts may be subclinical in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cataracts may be subclinical in some patients | rel=r_associated | relid=0 | w=27
  4977. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:cataracts variably present at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cataracts variably present at birth | rel=r_associated | relid=0 | w=27
  4978. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:cause of death usually due to respiratory failure before adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cause of death usually due to respiratory failure before adulthood | rel=r_associated | relid=0 | w=27
  4979. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:caused by constitutive activation of the avpr2 receptor
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by constitutive activation of the avpr2 receptor | rel=r_associated | relid=0 | w=27
  4980. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:caused by paternally-inherited inactivating gnas1 mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by paternally-inherited inactivating gnas1 mutations | rel=r_associated | relid=0 | w=27
  4981. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:cells of origin are part of the diffuse neuroendocrine system (dnes)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | rel=r_associated | relid=0 | w=27
  4982. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:changes more marked in hands than feet
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:changes more marked in hands than feet | rel=r_associated | relid=0 | w=27
  4983. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | rel=r_associated | relid=0 | w=27
  4984. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:chromosome rearrangements have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:chromosome rearrangements have been reported | rel=r_associated | relid=0 | w=27
  4985. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | rel=r_associated | relid=0 | w=27
  4986. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:clinical presentation varies from asymptomatic to fulminant course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=27
  4987. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | rel=r_associated | relid=0 | w=27
  4988. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:codominant inheritance has been suggested
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:codominant inheritance has been suggested | rel=r_associated | relid=0 | w=27
  4989. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:complete absence of melanin synthesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complete absence of melanin synthesis | rel=r_associated | relid=0 | w=27
  4990. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:complete penetrance but extreme variability of phenotypic expression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complete penetrance but extreme variability of phenotypic expression | rel=r_associated | relid=0 | w=27
  4991. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  4992. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:corrected by bone marrow transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:corrected by bone marrow transplantation | rel=r_associated | relid=0 | w=27
  4993. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:cutaneous symptoms induced by cold exposure or cooling
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=27
  4994. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:de novo mutation in some cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:de novo mutation in some cases | rel=r_associated | relid=0 | w=27
  4995. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:deafness tends to occur before other neurologic signs, except in patients with very early onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=27
  4996. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death by age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death by age 3 years | rel=r_associated | relid=0 | w=27
  4997. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death in early infancy (in some patients)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in early infancy (in some patients) | rel=r_associated | relid=0 | w=27
  4998. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death in first days or months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in first days or months of life | rel=r_associated | relid=0 | w=27
  4999. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death in infancy (patient b)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy (patient b) | rel=r_associated | relid=0 | w=27
  5000. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death in majority of infants soon after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=27
  5001. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death in the first years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in the first years of life | rel=r_associated | relid=0 | w=27
  5002. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death in third or fourth decades, usually due to respiratory infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=27
  5003. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death in utero (30%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in utero (30%) | rel=r_associated | relid=0 | w=27
  5004. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death occurs 5 to 10 years after onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death occurs 5 to 10 years after onset | rel=r_associated | relid=0 | w=27
  5005. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death often before age 2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often before age 2 | rel=r_associated | relid=0 | w=27
  5006. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death often occurs during metabolic/acidotic crisis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often occurs during metabolic/acidotic crisis | rel=r_associated | relid=0 | w=27
  5007. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death secondary to respiratory insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=27
  5008. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:death usually occurs in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death usually occurs in childhood | rel=r_associated | relid=0 | w=27
  5009. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:decreased penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:decreased penetrance | rel=r_associated | relid=0 | w=27
  5010. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:deletions in naip gene (600355) found in 18% of sma2 patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deletions in naip gene (600355) found in 18% of sma2 patients | rel=r_associated | relid=0 | w=27
  5011. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:described in single afrikaner family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in single afrikaner family | rel=r_associated | relid=0 | w=27
  5012. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:detected in 1/50,000 in neonatal screening programs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:detected in 1/50,000 in neonatal screening programs | rel=r_associated | relid=0 | w=27
  5013. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:diabetes diagnosed in second or third decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diabetes diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=27
  5014. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:diabetes mellitus develops in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diabetes mellitus develops in adolescence | rel=r_associated | relid=0 | w=27
  5015. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:diagnosis in seventh decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis in seventh decade of life | rel=r_associated | relid=0 | w=27
  5016. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:diarrhea persists even with vigorous nursing
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diarrhea persists even with vigorous nursing | rel=r_associated | relid=0 | w=27
  5017. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:disease shows slow progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=27
  5018. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:disorder may progress to involve a larger body area
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disorder may progress to involve a larger body area | rel=r_associated | relid=0 | w=27
  5019. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:distinct disorder from autosomal dominant hyper ige syndrome (147060)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | rel=r_associated | relid=0 | w=27
  5020. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | rel=r_associated | relid=0 | w=27
  5021. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:distinct disorder from parkinson disease (168600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from parkinson disease (168600) | rel=r_associated | relid=0 | w=27
  5022. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:distinctive and stereotyped sequence of events
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinctive and stereotyped sequence of events | rel=r_associated | relid=0 | w=27
  5023. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:dopa-responsive rigidity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dopa-responsive rigidity | rel=r_associated | relid=0 | w=27
  5024. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:drug-induced dyskinesias occur in a subset of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=27
  5025. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:dystonia and seizures may persist after resolution of episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dystonia and seizures may persist after resolution of episodes | rel=r_associated | relid=0 | w=27
  5026. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:earlier onset is rare
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earlier onset is rare | rel=r_associated | relid=0 | w=27
  5027. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:earlier onset may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:earlier onset may occur | rel=r_associated | relid=0 | w=27
  5028. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:early death (usually by 3 years of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=27
  5029. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:early death from infection may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death from infection may occur | rel=r_associated | relid=0 | w=27
  5030. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:early death may occur due to infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death may occur due to infection | rel=r_associated | relid=0 | w=27
  5031. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:early death often occurs from cardiac failure or infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death often occurs from cardiac failure or infection | rel=r_associated | relid=0 | w=27
  5032. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:echocardiogram and ophthalmologic examination normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:echocardiogram and ophthalmologic examination normal | rel=r_associated | relid=0 | w=27
  5033. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:empiric risk for a sib of an affected child between 2 and 5%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:empiric risk for a sib of an affected child between 2 and 5% | rel=r_associated | relid=0 | w=27
  5034. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5035. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:episode frequency is monthly to yearly, and decreases with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=27
  5036. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | rel=r_associated | relid=0 | w=27
  5037. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:episodic decompensation is usually triggered by illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodic decompensation is usually triggered by illness | rel=r_associated | relid=0 | w=27
  5038. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:erythema often triggered by sudden temperature change or emotional stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:erythema often triggered by sudden temperature change or emotional stress | rel=r_associated | relid=0 | w=27
  5039. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:estimated incidence of 1-2 in 10,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=27
  5040. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:estimated prevalence of 1 in 16,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated prevalence of 1 in 16,000 | rel=r_associated | relid=0 | w=27
  5041. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:exacerbations during infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:exacerbations during infection | rel=r_associated | relid=0 | w=27
  5042. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:excessive postsurgical blood loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=27
  5043. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:existence as a distinct entity is not confirmed
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:existence as a distinct entity is not confirmed | rel=r_associated | relid=0 | w=27
  5044. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:extreme clinical heterogeneity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:extreme clinical heterogeneity | rel=r_associated | relid=0 | w=27
  5045. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:f syndrome (102510) has many overlapping features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:f syndrome (102510) has many overlapping features | rel=r_associated | relid=0 | w=27
  5046. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:familial (10%) and isolated cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:familial (10%) and isolated cases | rel=r_associated | relid=0 | w=27
  5047. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:familial form - constitutional deficiency of vwf-cleaving protease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:familial form - constitutional deficiency of vwf-cleaving protease | rel=r_associated | relid=0 | w=27
  5048. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:fat pads become less prominent with time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fat pads become less prominent with time | rel=r_associated | relid=0 | w=27
  5049. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:favorable response of seizures to a ketogenic diet
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response of seizures to a ketogenic diet | rel=r_associated | relid=0 | w=27
  5050. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:favorable response to a ketogenic diet
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to a ketogenic diet | rel=r_associated | relid=0 | w=27
  5051. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:features are highly variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:features are highly variable | rel=r_associated | relid=0 | w=27
  5052. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:female carriers may have mild hearing impairment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have mild hearing impairment | rel=r_associated | relid=0 | w=27
  5053. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:female carriers may have short stature and premature ovarian failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have short stature and premature ovarian failure | rel=r_associated | relid=0 | w=27
  5054. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | rel=r_associated | relid=0 | w=27
  5055. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5056. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:five patients have been reported (as of 8/2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:five patients have been reported (as of 8/2011) | rel=r_associated | relid=0 | w=27
  5057. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | rel=r_associated | relid=0 | w=27
  5058. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | rel=r_associated | relid=0 | w=27
  5059. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:founder effect in irish traveler population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:founder effect in irish traveler population | rel=r_associated | relid=0 | w=27
  5060. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:four patients from 3 families have been reported (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=27
  5061. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:four patients from 3 families have been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=27
  5062. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:four patients from 3 families have been reported (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients from 3 families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=27
  5063. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:four patients have been reported (last curated june 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=27
  5064. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | rel=r_associated | relid=0 | w=27
  5065. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:four unrelated families have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=27
  5066. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:frequency and severity of seizures tends to decrease with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency and severity of seizures tends to decrease with age | rel=r_associated | relid=0 | w=27
  5067. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:frequency between 1 in 58,000 to 1 in 1,000,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency between 1 in 58,000 to 1 in 1,000,000 | rel=r_associated | relid=0 | w=27
  5068. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:frequently occurs in navajo children, especially in western reservations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequently occurs in navajo children, especially in western reservations | rel=r_associated | relid=0 | w=27
  5069. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:funduscopy before 2 years of age is unremarkable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:funduscopy before 2 years of age is unremarkable | rel=r_associated | relid=0 | w=27
  5070. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | rel=r_associated | relid=0 | w=27
  5071. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:gastric suction pump, home model, portable or stationary, electric
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=27
  5072. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:gene frequency in northwest puerto rico 1 in 18
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gene frequency in northwest puerto rico 1 in 18 | rel=r_associated | relid=0 | w=27
  5073. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see 157640)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 157640) | rel=r_associated | relid=0 | w=27
  5074. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see 608638)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 608638) | rel=r_associated | relid=0 | w=27
  5075. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | rel=r_associated | relid=0 | w=27
  5076. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | rel=r_associated | relid=0 | w=27
  5077. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see cnc2, 605244)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see cnc2, 605244) | rel=r_associated | relid=0 | w=27
  5078. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see madb, 608612)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see madb, 608612) | rel=r_associated | relid=0 | w=27
  5079. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see mcc1 deficiency 210200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=27
  5080. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see pfm1, 168500)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see pfm1, 168500) | rel=r_associated | relid=0 | w=27
  5081. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | rel=r_associated | relid=0 | w=27
  5082. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see psnp2 609454)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see psnp2 609454) | rel=r_associated | relid=0 | w=27
  5083. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see sca1, 164000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see sca1, 164000) | rel=r_associated | relid=0 | w=27
  5084. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see spg3a (182600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see spg3a (182600) | rel=r_associated | relid=0 | w=27
  5085. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | rel=r_associated | relid=0 | w=27
  5086. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:good response to gaba-enhancing medications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to gaba-enhancing medications | rel=r_associated | relid=0 | w=27
  5087. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | rel=r_associated | relid=0 | w=27
  5088. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:gradual progression of hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gradual progression of hearing loss | rel=r_associated | relid=0 | w=27
  5089. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:gradual spontaneous improvement in the first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gradual spontaneous improvement in the first year of life | rel=r_associated | relid=0 | w=27
  5090. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:green color resolves if cholestasis is treated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:green color resolves if cholestasis is treated | rel=r_associated | relid=0 | w=27
  5091. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:group a, found in north american indians, has lactic acidosis and psychomotor retardation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | rel=r_associated | relid=0 | w=27
  5092. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5093. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:hearing loss and hoarseness occur later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss and hoarseness occur later | rel=r_associated | relid=0 | w=27
  5094. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:hepatic failure develops in first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=27
  5095. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:heterozygotes have half-normal levels of apob-containing lipoproteins
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes have half-normal levels of apob-containing lipoproteins | rel=r_associated | relid=0 | w=27
  5096. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:heterozygous carriers have decreased blood pressure compared to the general population
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous carriers have decreased blood pressure compared to the general population | rel=r_associated | relid=0 | w=27
  5097. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5098. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:high frequency hearing loss progresses to include all frequencies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=27
  5099. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:high prevalence among individuals of middle eastern or african descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high prevalence among individuals of middle eastern or african descent | rel=r_associated | relid=0 | w=27
  5100. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:high risk of death in infancy due to cardiac failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high risk of death in infancy due to cardiac failure | rel=r_associated | relid=0 | w=27
  5101. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:highly penetrant, but low morbidity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=27
  5102. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:highly variable expression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable expression | rel=r_associated | relid=0 | w=27
  5103. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:highly variable phenotype with respect to facial dysmorphism and neurologic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=27
  5104. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:highly variable severity and features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=27
  5105. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:hyperkeratosis triggered by chronic mechanical irritation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hyperkeratosis triggered by chronic mechanical irritation | rel=r_associated | relid=0 | w=27
  5106. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:hypertension is presenting sign
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypertension is presenting sign | rel=r_associated | relid=0 | w=27
  5107. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:hypotonia may respond to treatment with pyridostigmine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hypotonia may respond to treatment with pyridostigmine | rel=r_associated | relid=0 | w=27
  5108. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5109. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:icelandic families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:icelandic families | rel=r_associated | relid=0 | w=27
  5110. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence 1 in 8,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=27
  5111. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence 1/100,000 - 1/200,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=27
  5112. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 10,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 10,000 live births | rel=r_associated | relid=0 | w=27
  5113. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 100,000 births in caucasians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 100,000 births in caucasians | rel=r_associated | relid=0 | w=27
  5114. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 120,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=27
  5115. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 25,000 livebirths
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 25,000 livebirths | rel=r_associated | relid=0 | w=27
  5116. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 276,000 in the netherlands
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 276,000 in the netherlands | rel=r_associated | relid=0 | w=27
  5117. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incidence of mh in anesthetized children is 1 in 15,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of mh in anesthetized children is 1 in 15,000 | rel=r_associated | relid=0 | w=27
  5118. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incomplete penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=27
  5119. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5120. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incomplete penetrance in carrier females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=27
  5121. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incomplete, but high, penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete, but high, penetrance | rel=r_associated | relid=0 | w=27
  5122. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:incompletely penetrant phenotype in heterozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incompletely penetrant phenotype in heterozygotes | rel=r_associated | relid=0 | w=27
  5123. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:increased aneuploidy in offspring
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=27
  5124. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:increased frequency in ashkenazi jews (carrier frequency 1 in 14)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | rel=r_associated | relid=0 | w=27
  5125. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:increased frequency in finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in finland | rel=r_associated | relid=0 | w=27
  5126. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:increased frequency in the state of bahia, brazil
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in the state of bahia, brazil | rel=r_associated | relid=0 | w=27
  5127. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:infants may die from apnea or aspiration
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infants may die from apnea or aspiration | rel=r_associated | relid=0 | w=27
  5128. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:inheritance pattern is unclear
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=27
  5129. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:initially normal rod responses may become significantly reduced at older age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:initially normal rod responses may become significantly reduced at older age | rel=r_associated | relid=0 | w=27
  5130. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:intelligence is normal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intelligence is normal | rel=r_associated | relid=0 | w=27
  5131. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:intermediate expression in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=27
  5132. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:intermittent exacerbations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=27
  5133. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  5134. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:joint laxity decreases with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=27
  5135. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:juvenile form has onset between 4 and 19 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=27
  5136. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:laryngeal edema can result in asphyxiation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:laryngeal edema can result in asphyxiation | rel=r_associated | relid=0 | w=27
  5137. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:late-adult onset (usually after age 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late-adult onset (usually after age 50 years) | rel=r_associated | relid=0 | w=27
  5138. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:later onset in adolescence has rarely been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset in adolescence has rarely been reported | rel=r_associated | relid=0 | w=27
  5139. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:left side involvement more frequent than right side involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=27
  5140. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:length of calorie fast:time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:length of calorie fast:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
  5141. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:lesions continue to grow until epiphyseal plate closure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=27
  5142. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:loss initially affects mid and high frequencies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss initially affects mid and high frequencies | rel=r_associated | relid=0 | w=27
  5143. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:loss of ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=27
  5144. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:low physical performance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:low physical performance | rel=r_associated | relid=0 | w=27
  5145. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:majority of cases in manitoba indians, northeastern manitoba, canada
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases in manitoba indians, northeastern manitoba, canada | rel=r_associated | relid=0 | w=27
  5146. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:majority of individuals are healthy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of individuals are healthy | rel=r_associated | relid=0 | w=27
  5147. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:majority of patients are ambulatory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=27
  5148. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:male to female ratio is greater than 3:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=27
  5149. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:many cases are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=27
  5150. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:many patients become wheelchair-bound by second or third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients become wheelchair-bound by second or third decade | rel=r_associated | relid=0 | w=27
  5151. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:many patients require cardiac pacemakers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients require cardiac pacemakers | rel=r_associated | relid=0 | w=27
  5152. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | rel=r_associated | relid=0 | w=27
  5153. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:marked intrafamilial variability of clinical features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=27
  5154. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:maternal breast milk is protective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:maternal breast milk is protective | rel=r_associated | relid=0 | w=27
  5155. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:may be benign condition
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be benign condition | rel=r_associated | relid=0 | w=27
  5156. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | rel=r_associated | relid=0 | w=27
  5157. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:may be lethal if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be lethal if untreated | rel=r_associated | relid=0 | w=27
  5158. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:may present in infancy with episodes of severe metabolic decompensation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may present in infancy with episodes of severe metabolic decompensation | rel=r_associated | relid=0 | w=27
  5159. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:may progress to other body regions after many years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=27
  5160. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:may regress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may regress | rel=r_associated | relid=0 | w=27
  5161. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 16.5 years (range 9 to 35 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 16.5 years (range 9 to 35 years) | rel=r_associated | relid=0 | w=27
  5162. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 35 years (range 20-60)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=27
  5163. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age at termination 3 to 4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=27
  5164. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age of death is 34 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of death is 34 years | rel=r_associated | relid=0 | w=27
  5165. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age of onset 14-24 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 14-24 months | rel=r_associated | relid=0 | w=27
  5166. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age of onset 21 years (range 14-35 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 21 years (range 14-35 years) | rel=r_associated | relid=0 | w=27
  5167. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age of onset 31 years (range 5-60)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=27
  5168. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mean age of onset 35-40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=27
  5169. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:melnick-needles syndrome (mns, 309350) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | rel=r_associated | relid=0 | w=27
  5170. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mild to severe forms of disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild to severe forms of disease | rel=r_associated | relid=0 | w=27
  5171. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:milder expression in female heterozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:milder expression in female heterozygotes | rel=r_associated | relid=0 | w=27
  5172. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5173. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | rel=r_associated | relid=0 | w=27
  5174. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:more common in females (male:female ratio 4:1)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more common in females (male:female ratio 4:1) | rel=r_associated | relid=0 | w=27
  5175. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:more frequent in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more frequent in females | rel=r_associated | relid=0 | w=27
  5176. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:more frequent in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:more frequent in males | rel=r_associated | relid=0 | w=27
  5177. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:most cases are caused by mutation in the phox2b gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases are caused by mutation in the phox2b gene | rel=r_associated | relid=0 | w=27
  5178. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:most cases result from de novo mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases result from de novo mutations | rel=r_associated | relid=0 | w=27
  5179. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:most common form of bowel obstruction in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common form of bowel obstruction in infancy | rel=r_associated | relid=0 | w=27
  5180. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:most patients are clinically asymptomatic and show normal development
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are clinically asymptomatic and show normal development | rel=r_associated | relid=0 | w=27
  5181. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:most patients become wheelchair-bound in adolescence or as young adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become wheelchair-bound in adolescence or as young adults | rel=r_associated | relid=0 | w=27
  5182. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:most patients die in first years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die in first years of life | rel=r_associated | relid=0 | w=27
  5183. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:most patients die of hepatic failure by 9 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients die of hepatic failure by 9 months of age | rel=r_associated | relid=0 | w=27
  5184. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mulibrey is an acronym (muscle, liver, brain, and eyes)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | rel=r_associated | relid=0 | w=27
  5185. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:multiple spontaneous abortions in obligate carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:multiple spontaneous abortions in obligate carriers | rel=r_associated | relid=0 | w=27
  5186. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:muscle weakness occurs only in the presence of hyperthyroidism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:muscle weakness occurs only in the presence of hyperthyroidism | rel=r_associated | relid=0 | w=27
  5187. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:mutations occur de novo
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutations occur de novo | rel=r_associated | relid=0 | w=27
  5188. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:myoclonus occurs at rest and with action
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:myoclonus occurs at rest and with action | rel=r_associated | relid=0 | w=27
  5189. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | rel=r_associated | relid=0 | w=27
  5190. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:natural aversion to carbohydrates and favoring of protein
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:natural aversion to carbohydrates and favoring of protein | rel=r_associated | relid=0 | w=27
  5191. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:neurologic features occur in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic features occur in adulthood | rel=r_associated | relid=0 | w=27
  5192. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:neuromuscular forms can present as perinate, infant, child, or adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neuromuscular forms can present as perinate, infant, child, or adult | rel=r_associated | relid=0 | w=27
  5193. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:neuromuscular, cardiovascular, and infectious symptoms improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | rel=r_associated | relid=0 | w=27
  5194. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:no cardiac or immune defects in patients from the 2 reported families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no cardiac or immune defects in patients from the 2 reported families | rel=r_associated | relid=0 | w=27
  5195. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:no family history of
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no family history of | rel=r_associated | relid=0 | w=27
  5196. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:no phenotypic manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no phenotypic manifestations | rel=r_associated | relid=0 | w=27
  5197. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | rel=r_associated | relid=0 | w=27
  5198. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:normal neonatal course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal neonatal course | rel=r_associated | relid=0 | w=27
  5199. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:number of episodes varies from 1 to many (up to 20)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:number of episodes varies from 1 to many (up to 20) | rel=r_associated | relid=0 | w=27
  5200. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
  5201. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:occasional adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occasional adult onset | rel=r_associated | relid=0 | w=27
  5202. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:occurs during pregnancy, most often in the third trimester
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs during pregnancy, most often in the third trimester | rel=r_associated | relid=0 | w=27
  5203. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:ocular abnormalities may be very mild
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ocular abnormalities may be very mild | rel=r_associated | relid=0 | w=27
  5204. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:often refractory to medical therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often refractory to medical therapy | rel=r_associated | relid=0 | w=27
  5205. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:often results in death in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often results in death in childhood | rel=r_associated | relid=0 | w=27
  5206. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:old order amish, african american, and french patients have been described
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:old order amish, african american, and french patients have been described | rel=r_associated | relid=0 | w=27
  5207. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | rel=r_associated | relid=0 | w=27
  5208. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one chinese family and 1 unrelated patient have been reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=27
  5209. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one chinese family has been reported (as of august 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one chinese family has been reported (as of august 2011) | rel=r_associated | relid=0 | w=27
  5210. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one chinese family has been reported (last curated october 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one chinese family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=27
  5211. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27
  5212. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family has been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  5213. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of curation date may, 2013) onset in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of curation date may, 2013) onset in infancy | rel=r_associated | relid=0 | w=27
  5214. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of january 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=27
  5215. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of july 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of july 2011) | rel=r_associated | relid=0 | w=27
  5216. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one family of french-canadian origin has been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family of french-canadian origin has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=27
  5217. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one family reported with piezo2 mutation (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported with piezo2 mutation (last curated january 2015) | rel=r_associated | relid=0 | w=27
  5218. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one family with 4 affected sibs has been reported (as of april 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 4 affected sibs has been reported (as of april 2012) | rel=r_associated | relid=0 | w=27
  5219. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one japanese patient has been reported (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one japanese patient has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=27
  5220. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  5221. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5222. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one male patient has been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one male patient has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27
  5223. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one palestinian family and one lebanese family have been described (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one palestinian family and one lebanese family have been described (last curated march 2016) | rel=r_associated | relid=0 | w=27
  5224. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (as of july 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of july 2010) | rel=r_associated | relid=0 | w=27
  5225. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=27
  5226. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated january 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=27
  5227. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=27
  5228. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one patient with severe congenital onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with severe congenital onset has been reported | rel=r_associated | relid=0 | w=27
  5229. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one patient with unrelated german parents has been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with unrelated german parents has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  5230. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:one turkish girl has been reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one turkish girl has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=27
  5231. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset 14 months to 4 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 14 months to 4 years of age | rel=r_associated | relid=0 | w=27
  5232. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset 20-55 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 20-55 years of age | rel=r_associated | relid=0 | w=27
  5233. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset around adolescence in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset around adolescence in males | rel=r_associated | relid=0 | w=27
  5234. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset at 2 to 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 2 to 15 years | rel=r_associated | relid=0 | w=27
  5235. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset at 4 to 9 weeks of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 4 to 9 weeks of age | rel=r_associated | relid=0 | w=27
  5236. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset at early age, associated with sudden death in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at early age, associated with sudden death in childhood | rel=r_associated | relid=0 | w=27
  5237. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset at or soon after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at or soon after birth | rel=r_associated | relid=0 | w=27
  5238. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset before 10 years of age in all patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset before 10 years of age in all patients | rel=r_associated | relid=0 | w=27
  5239. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset between 1-3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 1-3 years | rel=r_associated | relid=0 | w=27
  5240. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset between 10 and 20 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 10 and 20 years of age | rel=r_associated | relid=0 | w=27
  5241. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset between 2 to 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 2 to 20 years | rel=r_associated | relid=0 | w=27
  5242. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset between 3 and 11 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 3 and 11 years of age | rel=r_associated | relid=0 | w=27
  5243. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset between 34 and 51 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 34 and 51 years of age | rel=r_associated | relid=0 | w=27
  5244. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset between 6 and 14 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 6 and 14 years | rel=r_associated | relid=0 | w=27
  5245. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset between 7 and 27 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 7 and 27 years of age | rel=r_associated | relid=0 | w=27
  5246. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | rel=r_associated | relid=0 | w=27
  5247. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (3 to 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (3 to 10 years) | rel=r_associated | relid=0 | w=27
  5248. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (range 0.5 to 7 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range 0.5 to 7 years) | rel=r_associated | relid=0 | w=27
  5249. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in early childhood to puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood to puberty | rel=r_associated | relid=0 | w=27
  5250. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in first and second decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first and second decades | rel=r_associated | relid=0 | w=27
  5251. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in first decade (range 1 to 7 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first decade (range 1 to 7 years) | rel=r_associated | relid=0 | w=27
  5252. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in first or second decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first or second decades | rel=r_associated | relid=0 | w=27
  5253. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in fourth to sixth decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in fourth to sixth decades | rel=r_associated | relid=0 | w=27
  5254. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in infancy (1-2 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy (1-2 years) | rel=r_associated | relid=0 | w=27
  5255. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in infancy (first year of life)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy (first year of life) | rel=r_associated | relid=0 | w=27
  5256. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in infancy after weaning from being breast-fed
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy after weaning from being breast-fed | rel=r_associated | relid=0 | w=27
  5257. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in infancy or childhood (range 1 to 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or childhood (range 1 to 6 years) | rel=r_associated | relid=0 | w=27
  5258. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in late childhood (after age 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late childhood (after age 10 years) | rel=r_associated | relid=0 | w=27
  5259. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in late infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late infancy | rel=r_associated | relid=0 | w=27
  5260. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in mid-forties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in mid-forties | rel=r_associated | relid=0 | w=27
  5261. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second decade | rel=r_associated | relid=0 | w=27
  5262. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in second decade of life progresses from mild to profound hearing loss
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in second decade of life progresses from mild to profound hearing loss | rel=r_associated | relid=0 | w=27
  5263. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in teens to 20's
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in teens to 20's | rel=r_associated | relid=0 | w=27
  5264. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in the fourth to sixth decades (mean 40 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the fourth to sixth decades (mean 40 years) | rel=r_associated | relid=0 | w=27
  5265. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in utero, infancy, or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in utero, infancy, or early childhood | rel=r_associated | relid=0 | w=27
  5266. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset in young adulthood or adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in young adulthood or adulthood | rel=r_associated | relid=0 | w=27
  5267. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of acanthosis nigricans correlates with onset of diabetes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of acanthosis nigricans correlates with onset of diabetes | rel=r_associated | relid=0 | w=27
  5268. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of cardiomyopathy may occur several months after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of cardiomyopathy may occur several months after birth | rel=r_associated | relid=0 | w=27
  5269. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of disease 7 months to 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease 7 months to 3 years | rel=r_associated | relid=0 | w=27
  5270. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of fractures 4-18 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of fractures 4-18 months of life | rel=r_associated | relid=0 | w=27
  5271. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of hearing loss in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in adolescence | rel=r_associated | relid=0 | w=27
  5272. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of hearing loss in childhood (range 7 to 13 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hearing loss in childhood (range 7 to 13 years) | rel=r_associated | relid=0 | w=27
  5273. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of hypoglycemia and hyperinsulinism in the neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | rel=r_associated | relid=0 | w=27
  5274. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of joint contractures later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of joint contractures later in life | rel=r_associated | relid=0 | w=27
  5275. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of motor disturbances in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of motor disturbances in childhood | rel=r_associated | relid=0 | w=27
  5276. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of overgrowth in second to third month of life (in some cases)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of overgrowth in second to third month of life (in some cases) | rel=r_associated | relid=0 | w=27
  5277. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of seizures at 2-8 days of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures at 2-8 days of life | rel=r_associated | relid=0 | w=27
  5278. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of seizures between 2 and 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures between 2 and 5 years | rel=r_associated | relid=0 | w=27
  5279. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of sleep terrors between age 4 and 12 years old
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of sleep terrors between age 4 and 12 years old | rel=r_associated | relid=0 | w=27
  5280. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of spasticity by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of spasticity by age 2 years | rel=r_associated | relid=0 | w=27
  5281. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of spasticity in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of spasticity in childhood | rel=r_associated | relid=0 | w=27
  5282. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of symptoms at 2-4 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms at 2-4 months | rel=r_associated | relid=0 | w=27
  5283. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of symptoms in the fourth to sixth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in the fourth to sixth decade of life | rel=r_associated | relid=0 | w=27
  5284. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset of vision loss in young adulthood (<20 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of vision loss in young adulthood (<20 years) | rel=r_associated | relid=0 | w=27
  5285. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset often begins in childhood or adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset often begins in childhood or adolescence | rel=r_associated | relid=0 | w=27
  5286. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset precipitated by fasting or illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset precipitated by fasting or illness | rel=r_associated | relid=0 | w=27
  5287. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually after age 40
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually after age 40 | rel=r_associated | relid=0 | w=27
  5288. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually at birth | rel=r_associated | relid=0 | w=27
  5289. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually by age 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually by age 2 years | rel=r_associated | relid=0 | w=27
  5290. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in adulthood | rel=r_associated | relid=0 | w=27
  5291. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually in childhood (1 to 9 years of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in childhood (1 to 9 years of age) | rel=r_associated | relid=0 | w=27
  5292. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually in first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in first year of life | rel=r_associated | relid=0 | w=27
  5293. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually in mid-teens, average 15 years (range 2 to 20 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | rel=r_associated | relid=0 | w=27
  5294. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:onset usually in second decade of life, although earlier and later onset have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in second decade of life, although earlier and later onset have been reported | rel=r_associated | relid=0 | w=27
  5295. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:oral supplementation with ubiquinone does not result in major clinical improvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:oral supplementation with ubiquinone does not result in major clinical improvement | rel=r_associated | relid=0 | w=27
  5296. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:overlapping clinical spectrum and allelic to masa syndrome (303350)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | rel=r_associated | relid=0 | w=27
  5297. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  5298. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:part of 'dent disease complex'
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:part of 'dent disease complex' | rel=r_associated | relid=0 | w=27
  5299. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:pathogenic cag repeat length is 51 to 78 triplets
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pathogenic cag repeat length is 51 to 78 triplets | rel=r_associated | relid=0 | w=27
  5300. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patient b had a more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patient b had a more severe phenotype | rel=r_associated | relid=0 | w=27
  5301. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patients are born with normal head circumference
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients are born with normal head circumference | rel=r_associated | relid=0 | w=27
  5302. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patients may have benign course until late adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may have benign course until late adulthood | rel=r_associated | relid=0 | w=27
  5303. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patients may or may not have dysmorphic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may or may not have dysmorphic features | rel=r_associated | relid=0 | w=27
  5304. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patients may show intermittent signs of improvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may show intermittent signs of improvement | rel=r_associated | relid=0 | w=27
  5305. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patients walk on tips of toes with dorsal foot deviated laterally
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients walk on tips of toes with dorsal foot deviated laterally | rel=r_associated | relid=0 | w=27
  5306. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patients with adult onset present with psychiatric features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with adult onset present with psychiatric features | rel=r_associated | relid=0 | w=27
  5307. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:patients with atypical form have milder disease, with onset in the first months of life and increased survival
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5308. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | rel=r_associated | relid=0 | w=27
  5309. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | rel=r_associated | relid=0 | w=27
  5310. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:penetrance estimated to be 80%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=27
  5311. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:performing laboratory name:identifier:point in time:facility:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:performing laboratory name:identifier:point in time:facility:nominal | rel=r_associated | relid=0 | w=27
  5312. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:perinatal death
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:perinatal death | rel=r_associated | relid=0 | w=27
  5313. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:persistent bleeding after injury or surgery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:persistent bleeding after injury or surgery | rel=r_associated | relid=0 | w=27
  5314. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:persistent bleeding after trauma
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:persistent bleeding after trauma | rel=r_associated | relid=0 | w=27
  5315. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | rel=r_associated | relid=0 | w=27
  5316. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:phenotypic similarities to costello syndrome (218040)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic similarities to costello syndrome (218040) | rel=r_associated | relid=0 | w=27
  5317. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:phenotypic variability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic variability | rel=r_associated | relid=0 | w=27
  5318. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:phenotypic variation (may affect language expression, reception, and/or articulation)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic variation (may affect language expression, reception, and/or articulation) | rel=r_associated | relid=0 | w=27
  5319. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:possible x-linked recessive inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possible x-linked recessive inheritance | rel=r_associated | relid=0 | w=27
  5320. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:possibly x-linked recessive inheritance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possibly x-linked recessive inheritance | rel=r_associated | relid=0 | w=27
  5321. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:precipitated by general anesthesia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitated by general anesthesia | rel=r_associated | relid=0 | w=27
  5322. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:precipitated by sleep deprivation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitated by sleep deprivation | rel=r_associated | relid=0 | w=27
  5323. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:present in infancy in all affected individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:present in infancy in all affected individuals | rel=r_associated | relid=0 | w=27
  5324. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:presentation after 18 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation after 18 months | rel=r_associated | relid=0 | w=27
  5325. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  5326. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prevalence much higher in whites than blacks
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence much higher in whites than blacks | rel=r_associated | relid=0 | w=27
  5327. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prevalence of 1 in 28,000 caucasians
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 28,000 caucasians | rel=r_associated | relid=0 | w=27
  5328. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prevalence of 1 in 50,000-70,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 50,000-70,000 live births | rel=r_associated | relid=0 | w=27
  5329. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prevalence of approximately 1 in 2000 individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of approximately 1 in 2000 individuals | rel=r_associated | relid=0 | w=27
  5330. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prevalent among the amish
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent among the amish | rel=r_associated | relid=0 | w=27
  5331. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prevalent in ashkenazi jews
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in ashkenazi jews | rel=r_associated | relid=0 | w=27
  5332. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prevalent in quebec
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent in quebec | rel=r_associated | relid=0 | w=27
  5333. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | rel=r_associated | relid=0 | w=27
  5334. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:progressive disorder, usually with rapid, relentless course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive disorder, usually with rapid, relentless course | rel=r_associated | relid=0 | w=27
  5335. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:progressive renal disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:progressive renal disorder | rel=r_associated | relid=0 | w=27
  5336. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:range of onset 11 to 50 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:range of onset 11 to 50 years | rel=r_associated | relid=0 | w=27
  5337. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:rapidly progressive disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rapidly progressive disorder | rel=r_associated | relid=0 | w=27
  5338. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:ratio female to male, 19:10 in index family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ratio female to male, 19:10 in index family | rel=r_associated | relid=0 | w=27
  5339. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:recurrence of symptoms after cholecystectomy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrence of symptoms after cholecystectomy | rel=r_associated | relid=0 | w=27
  5340. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:recurrent bacterial, viral, and fungal infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent bacterial, viral, and fungal infections | rel=r_associated | relid=0 | w=27
  5341. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:reduced penetrance in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance in females | rel=r_associated | relid=0 | w=27
  5342. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:reference lab test identifier:id:xxx:reference lab test:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reference lab test identifier:id:xxx:reference lab test:nom | rel=r_associated | relid=0 | w=27
  5343. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:regional, racial, and ethnic clustering has been noted
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:regional, racial, and ethnic clustering has been noted | rel=r_associated | relid=0 | w=27
  5344. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:relapsing-remitting course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relapsing-remitting course | rel=r_associated | relid=0 | w=27
  5345. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:reported in individuals of amish or mennonite descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in individuals of amish or mennonite descent | rel=r_associated | relid=0 | w=27
  5346. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:results in severe motor disability and loss of independent ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:results in severe motor disability and loss of independent ambulation | rel=r_associated | relid=0 | w=27
  5347. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:risk of sudden death in childhood due to cardiac arrest
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of sudden death in childhood due to cardiac arrest | rel=r_associated | relid=0 | w=27
  5348. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also an adult-onset form (213600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also an adult-onset form (213600) | rel=r_associated | relid=0 | w=27
  5349. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also autosomal recessive robinow syndrome (268310)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal recessive robinow syndrome (268310) | rel=r_associated | relid=0 | w=27
  5350. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also benign neonatal epilepsy (ebn1, 121200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also benign neonatal epilepsy (ebn1, 121200) | rel=r_associated | relid=0 | w=27
  5351. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also cmtx1 (302800) and cmtx2 (302801)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also cmtx1 (302800) and cmtx2 (302801) | rel=r_associated | relid=0 | w=27
  5352. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also ecyt2 (263400) and ecyt3 (609820)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also ecyt2 (263400) and ecyt3 (609820) | rel=r_associated | relid=0 | w=27
  5353. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also french-canadian type of leigh syndrome (220111)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also french-canadian type of leigh syndrome (220111) | rel=r_associated | relid=0 | w=27
  5354. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  5355. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  5356. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also hmn2b (608634)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also hmn2b (608634) | rel=r_associated | relid=0 | w=27
  5357. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also mmab (251110)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also mmab (251110) | rel=r_associated | relid=0 | w=27
  5358. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=27
  5359. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | rel=r_associated | relid=0 | w=27
  5360. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see also the lethal neonatal (608836) and infantile (600649) forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also the lethal neonatal (608836) and infantile (600649) forms | rel=r_associated | relid=0 | w=27
  5361. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:see entry 104300 for general information on alzheimer disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see entry 104300 for general information on alzheimer disease | rel=r_associated | relid=0 | w=27
  5362. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seizure onset between 3 and 11 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizure onset between 3 and 11 years | rel=r_associated | relid=0 | w=27
  5363. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seizures last about 30 seconds to 3 minutes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures last about 30 seconds to 3 minutes | rel=r_associated | relid=0 | w=27
  5364. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seizures may be refractory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may be refractory | rel=r_associated | relid=0 | w=27
  5365. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seizures may be triggered by infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures may be triggered by infection | rel=r_associated | relid=0 | w=27
  5366. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seizures occur upon awakening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures occur upon awakening | rel=r_associated | relid=0 | w=27
  5367. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seizures remit spontaneously by age 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=27
  5368. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seizures usually occur in the first months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures usually occur in the first months of life | rel=r_associated | relid=0 | w=27
  5369. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5370. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27
  5371. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5372. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:seven patients reported (as of march 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seven patients reported (as of march 2011) | rel=r_associated | relid=0 | w=27
  5373. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:several forms of autosomal recessive spastic paraplegia (see 270800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:several forms of autosomal recessive spastic paraplegia (see 270800) | rel=r_associated | relid=0 | w=27
  5374. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:severely affected individuals may carry 2 mutated alleles
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severely affected individuals may carry 2 mutated alleles | rel=r_associated | relid=0 | w=27
  5375. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:sex ratio - 2.3 males-to-1 female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sex ratio - 2.3 males-to-1 female | rel=r_associated | relid=0 | w=27
  5376. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:short umbilical cord
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:short umbilical cord | rel=r_associated | relid=0 | w=27
  5377. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:sib a developed symptoms after routine mmr vaccination
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sib a developed symptoms after routine mmr vaccination | rel=r_associated | relid=0 | w=27
  5378. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:significant number of patients are stillborn or die in neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:significant number of patients are stillborn or die in neonatal period | rel=r_associated | relid=0 | w=27
  5379. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | rel=r_associated | relid=0 | w=27
  5380. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:simple febrile seizures usually remit by age 6 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:simple febrile seizures usually remit by age 6 years | rel=r_associated | relid=0 | w=27
  5381. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:skeletal and facial features are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skeletal and facial features are variable | rel=r_associated | relid=0 | w=27
  5382. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:skin lesions worsen with heat or sun exposure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions worsen with heat or sun exposure | rel=r_associated | relid=0 | w=27
  5383. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:skin peeling exacerbated by heat, friction, and humidity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin peeling exacerbated by heat, friction, and humidity | rel=r_associated | relid=0 | w=27
  5384. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:slight male predominance (3:2)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slight male predominance (3:2) | rel=r_associated | relid=0 | w=27
  5385. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:slowly progressive disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slowly progressive disease | rel=r_associated | relid=0 | w=27
  5386. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:small placenta
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:small placenta | rel=r_associated | relid=0 | w=27
  5387. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:somatic mosaicism has been observed in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:somatic mosaicism has been observed in some patients | rel=r_associated | relid=0 | w=27
  5388. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients can attend special school
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients can attend special school | rel=r_associated | relid=0 | w=27
  5389. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients do not develop stroke
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not develop stroke | rel=r_associated | relid=0 | w=27
  5390. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  5391. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | rel=r_associated | relid=0 | w=27
  5392. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients have isolated cfeom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have isolated cfeom | rel=r_associated | relid=0 | w=27
  5393. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients have juvenile-onset myoclonic epilepsy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have juvenile-onset myoclonic epilepsy | rel=r_associated | relid=0 | w=27
  5394. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients may have normal development until onset of seizures in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may have normal development until onset of seizures in infancy | rel=r_associated | relid=0 | w=27
  5395. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients may need surgery or renal transplant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may need surgery or renal transplant | rel=r_associated | relid=0 | w=27
  5396. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients may not achieve walking
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may not achieve walking | rel=r_associated | relid=0 | w=27
  5397. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients never achieve sitting
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients never achieve sitting | rel=r_associated | relid=0 | w=27
  5398. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | rel=r_associated | relid=0 | w=27
  5399. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients present with spasticity, whereas others present with cerebellar ataxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients present with spasticity, whereas others present with cerebellar ataxia | rel=r_associated | relid=0 | w=27
  5400. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients report increased tolerance to heat
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients report increased tolerance to heat | rel=r_associated | relid=0 | w=27
  5401. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients respond to acetazolamide
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients respond to acetazolamide | rel=r_associated | relid=0 | w=27
  5402. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:some patients show delayed development from birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show delayed development from birth | rel=r_associated | relid=0 | w=27
  5403. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:stable or slowly progressive course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stable or slowly progressive course | rel=r_associated | relid=0 | w=27
  5404. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:stillborn or lethal in the neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:stillborn or lethal in the neonatal period | rel=r_associated | relid=0 | w=27
  5405. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:sudden infantile death may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden infantile death may occur | rel=r_associated | relid=0 | w=27
  5406. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:survival to 20 years in severe form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival to 20 years in severe form | rel=r_associated | relid=0 | w=27
  5407. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:symptoms ameliorate with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms ameliorate with age | rel=r_associated | relid=0 | w=27
  5408. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:symptoms can be prevented by strict dietary restriction
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms can be prevented by strict dietary restriction | rel=r_associated | relid=0 | w=27
  5409. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:symptoms develop immediately after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms develop immediately after birth | rel=r_associated | relid=0 | w=27
  5410. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | rel=r_associated | relid=0 | w=27
  5411. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | rel=r_associated | relid=0 | w=27
  5412. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:symptoms usually appear in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms usually appear in adulthood | rel=r_associated | relid=0 | w=27
  5413. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:symptoms usually occur in adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms usually occur in adults | rel=r_associated | relid=0 | w=27
  5414. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  5415. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:therapy-induced dyskinesias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:therapy-induced dyskinesias | rel=r_associated | relid=0 | w=27
  5416. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | rel=r_associated | relid=0 | w=27
  5417. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:three main clinical forms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three main clinical forms | rel=r_associated | relid=0 | w=27
  5418. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:three out of 4 reported patients died (last curated may 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three out of 4 reported patients died (last curated may 2014) | rel=r_associated | relid=0 | w=27
  5419. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia | rel=r_associated | relid=0 | w=27
  5420. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=27
  5421. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:three unrelated families have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=27
  5422. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:three unrelated families have been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  5423. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:toe-walking gait
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:toe-walking gait | rel=r_associated | relid=0 | w=27
  5424. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:treatment with oral coenzyme q may ameliorate symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with oral coenzyme q may ameliorate symptoms | rel=r_associated | relid=0 | w=27
  5425. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | rel=r_associated | relid=0 | w=27
  5426. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:truncating mutations in crebbp found in 10% of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:truncating mutations in crebbp found in 10% of patients | rel=r_associated | relid=0 | w=27
  5427. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two affected females have been reported (last curated november 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two affected females have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=27
  5428. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two brothers in a french family have been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two brothers in a french family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=27
  5429. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two main phenotypes, metabolic and neurologic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two main phenotypes, metabolic and neurologic | rel=r_associated | relid=0 | w=27
  5430. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two patients have been reported (as of august 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=27
  5431. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two sibs and an unrelated fetus have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  5432. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two thirds of patients are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two thirds of patients are female | rel=r_associated | relid=0 | w=27
  5433. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated consanguineous families have been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated consanguineous families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=27
  5434. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=27
  5435. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated december 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=27
  5436. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated july 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
  5437. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=27
  5438. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated november 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=27
  5439. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated individuals have been reported (last curated january 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated individuals have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=27
  5440. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=27
  5441. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=27
  5442. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients with confirmed mutations have been reported (as of january 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | rel=r_associated | relid=0 | w=27
  5443. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:type 1 porencephaly is usually unilateral and results from destructive lesions
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 1 porencephaly is usually unilateral and results from destructive lesions | rel=r_associated | relid=0 | w=27
  5444. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:type 2n is characterized by decreased binding affinity for factor viii
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 2n is characterized by decreased binding affinity for factor viii | rel=r_associated | relid=0 | w=27
  5445. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> 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:two unrelated families have been reported (last curated february 2016) | 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=27
  5446. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:typical attacks last from seconds to minutes, but longer occurrences have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | rel=r_associated | relid=0 | w=27
  5447. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=27
  5448. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci | rel=r_associated | relid=0 | w=27
  5449. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:usually a manifestation of the carney complex (cnc1, 1609890)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually a manifestation of the carney complex (cnc1, 1609890) | rel=r_associated | relid=0 | w=27
  5450. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:usually occurs in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually occurs in young adulthood | rel=r_associated | relid=0 | w=27
  5451. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | rel=r_associated | relid=0 | w=27
  5452. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (late childhood to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (late childhood to adult) | rel=r_associated | relid=0 | w=27
  5453. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range 2 to 59 years, mean 24 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 2 to 59 years, mean 24 years) | rel=r_associated | relid=0 | w=27
  5454. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range 4 to 40 years, mostly in first or second decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | rel=r_associated | relid=0 | w=27
  5455. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range 6 to 54 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 6 to 54 years) | rel=r_associated | relid=0 | w=27
  5456. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age at onset, first to second decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, first to second decades | rel=r_associated | relid=0 | w=27
  5457. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age at onset, mostly in third decade (range teenage years to fourth decade)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | rel=r_associated | relid=0 | w=27
  5458. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age of onset (20 to 35 years old)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (20 to 35 years old) | rel=r_associated | relid=0 | w=27
  5459. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable age of onset, from 6 to 50 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset, from 6 to 50 years of age | rel=r_associated | relid=0 | w=27
  5460. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable clinical presentation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable clinical presentation | rel=r_associated | relid=0 | w=27
  5461. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable clinical presentation ranging from acute onset to normal adult
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable clinical presentation ranging from acute onset to normal adult | rel=r_associated | relid=0 | w=27
  5462. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable features present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable features present | rel=r_associated | relid=0 | w=27
  5463. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable onset of seizures from neonatal to first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable onset of seizures from neonatal to first year of life | rel=r_associated | relid=0 | w=27
  5464. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable pattern of body involvement although symptoms may predominate in upper or lower body
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | rel=r_associated | relid=0 | w=27
  5465. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable phenotype within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype within families | rel=r_associated | relid=0 | w=27
  5466. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable phenotype, particularly with regard to cortical malformations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotype, particularly with regard to cortical malformations | rel=r_associated | relid=0 | w=27
  5467. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable phenotypic features cataloged depending on development of fetus or infant
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable phenotypic features cataloged depending on development of fetus or infant | rel=r_associated | relid=0 | w=27
  5468. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable response to levodopa treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable response to levodopa treatment | rel=r_associated | relid=0 | w=27
  5469. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable severity of phenotype and other features may be present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity of phenotype and other features may be present | rel=r_associated | relid=0 | w=27
  5470. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:variable severity that correlates with rate and magnitude of neuronal protein accumulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | rel=r_associated | relid=0 | w=27
  5471. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:vhl type 2c - pheochromocytoma only
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:vhl type 2c - pheochromocytoma only | rel=r_associated | relid=0 | w=27
  5472. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:virtually all patients are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:virtually all patients are female | rel=r_associated | relid=0 | w=27
  5473. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:virtually all patients with this condition are female
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:virtually all patients with this condition are female | rel=r_associated | relid=0 | w=27
  5474. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:waddling gait noted at age 15-20 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:waddling gait noted at age 15-20 months | rel=r_associated | relid=0 | w=27
  5475. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:waddling gate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:waddling gate | rel=r_associated | relid=0 | w=27
  5476. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:walking delay
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:walking delay | rel=r_associated | relid=0 | w=27
  5477. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:wasting of hands often occurs first
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:wasting of hands often occurs first | rel=r_associated | relid=0 | w=27
  5478. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:when present, onset of vestibular dysfunction in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:when present, onset of vestibular dysfunction in childhood | rel=r_associated | relid=0 | w=27
  5479. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 27 / 0.628 -> en:x-linked inheritance could not be ruled out
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:x-linked inheritance could not be ruled out | rel=r_associated | relid=0 | w=27
  5480. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | rel=r_associated | relid=0 | w=26
  5481. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | rel=r_associated | relid=0 | w=26
  5482. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:12% due to epimutation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:12% due to epimutation | rel=r_associated | relid=0 | w=26
  5483. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:70% due to de novo maternal deletion of 15q11.2-q13
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:70% due to de novo maternal deletion of 15q11.2-q13 | rel=r_associated | relid=0 | w=26
  5484. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:a second patient died at age 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:a second patient died at age 3 years | rel=r_associated | relid=0 | w=26
  5485. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:about 15% of female carriers develop renal insufficiency in the second or third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:about 15% of female carriers develop renal insufficiency in the second or third decade | rel=r_associated | relid=0 | w=26
  5486. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:acetazolamide is often effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:acetazolamide is often effective | rel=r_associated | relid=0 | w=26
  5487. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:adult form onset has after 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult form onset has after 20 years | rel=r_associated | relid=0 | w=26
  5488. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:adult onset has been rarely reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset has been rarely reported | rel=r_associated | relid=0 | w=26
  5489. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:adult onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=26
  5490. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:adults may lose ability to walk
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:adults may lose ability to walk | rel=r_associated | relid=0 | w=26
  5491. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:affected individuals die soon after birth due to respiratory failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals die soon after birth due to respiratory failure | rel=r_associated | relid=0 | w=26
  5492. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:affected individuals remain ambulatory
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affected individuals remain ambulatory | rel=r_associated | relid=0 | w=26
  5493. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:affects between 1 in 200 to 1 in 400 individuals of northern european descent
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | rel=r_associated | relid=0 | w=26
  5494. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age at death:time:point in time:^patient:quantitative
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at death:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=26
  5495. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age at diagnosis 36 +/- 20 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at diagnosis 36 +/- 20 years | rel=r_associated | relid=0 | w=26
  5496. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age at onset ranges from first to sixth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age at onset ranges from first to sixth decade | rel=r_associated | relid=0 | w=26
  5497. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age of onset 43-64 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset 43-64 years | rel=r_associated | relid=0 | w=26
  5498. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age of onset between 6 to 10 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset between 6 to 10 years of age | rel=r_associated | relid=0 | w=26
  5499. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age of onset from 10 to 40 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset from 10 to 40 years | rel=r_associated | relid=0 | w=26
  5500. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age of onset of distal lower limb weakness 8-16 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=26
  5501. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age of onset ranges from neonate to adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset ranges from neonate to adulthood | rel=r_associated | relid=0 | w=26
  5502. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age of onset third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset third decade | rel=r_associated | relid=0 | w=26
  5503. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age of onset varies ranging from 3 weeks to 22 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=26
  5504. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:age:time:pt:^patient:qn:estimated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:age:time:pt:^patient:qn:estimated | rel=r_associated | relid=0 | w=26
  5505. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:all cases sporadic (18 males, 7 females)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=26
  5506. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=26
  5507. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5508. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | rel=r_associated | relid=0 | w=26
  5509. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | rel=r_associated | relid=0 | w=26
  5510. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to nieman-pick disease type b (607616)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to nieman-pick disease type b (607616) | rel=r_associated | relid=0 | w=26
  5511. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to potassium-aggravated myotonia (608390)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=26
  5512. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to the zlotogora-ogur syndrome (225000)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic disorder to the zlotogora-ogur syndrome (225000) | rel=r_associated | relid=0 | w=26
  5513. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> 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:two unrelated families have been reported (last curated february 2016) | 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=26
  5514. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5515. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5516. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to birt-hogg-dube syndrome (135150)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to birt-hogg-dube syndrome (135150) | rel=r_associated | relid=0 | w=26
  5517. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to enhanced s-cone syndrome (268100)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to enhanced s-cone syndrome (268100) | rel=r_associated | relid=0 | w=26
  5518. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to kenny-caffey syndrome type 1 (244460)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to kenny-caffey syndrome type 1 (244460) | rel=r_associated | relid=0 | w=26
  5519. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | rel=r_associated | relid=0 | w=26
  5520. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | rel=r_associated | relid=0 | w=26
  5521. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=26
  5522. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | rel=r_associated | relid=0 | w=26
  5523. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=26
  5524. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:alpha thalassemia-mental retardation syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:alpha thalassemia-mental retardation syndrome | rel=r_associated | relid=0 | w=26
  5525. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:approximately 40% of cases are inherited or new germline mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=26
  5526. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:arthralgia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:arthralgia | rel=r_associated | relid=0 | w=26
  5527. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:associated with myoclonic epilepsy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:associated with myoclonic epilepsy | rel=r_associated | relid=0 | w=26
  5528. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> 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:two unrelated families have been reported (last curated february 2016) | 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=26
  5529. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:association between hla class ii alleles and presence of autoantibodies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:association between hla class ii alleles and presence of autoantibodies | rel=r_associated | relid=0 | w=26
  5530. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:ataxia is nonprogressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ataxia is nonprogressive | rel=r_associated | relid=0 | w=26
  5531. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:attacks typically last for minutes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks typically last for minutes | rel=r_associated | relid=0 | w=26
  5532. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:autoimmune features are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=26
  5533. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:autosomal dominant with complete penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal dominant with complete penetrance | rel=r_associated | relid=0 | w=26
  5534. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive cases have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive cases have been reported | rel=r_associated | relid=0 | w=26
  5535. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive cytochrome b-positive cgd, type ii
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:autosomal recessive cytochrome b-positive cgd, type ii | rel=r_associated | relid=0 | w=26
  5536. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on 1 uruguayan family (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 1 uruguayan family (last curated april 2014) | rel=r_associated | relid=0 | w=26
  5537. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on 2 cousins in a consanguineous family (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 cousins in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=26
  5538. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on 2 patients with p4hb mutations (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 2 patients with p4hb mutations (last curated april 2015) | rel=r_associated | relid=0 | w=26
  5539. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on 3 patients from 2 families (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on 3 patients from 2 families (last curated january 2015) | rel=r_associated | relid=0 | w=26
  5540. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | rel=r_associated | relid=0 | w=26
  5541. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on four patients in a four generation family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on four patients in a four generation family | rel=r_associated | relid=0 | w=26
  5542. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on one report of 4 unrelated sporadic patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on one report of 4 unrelated sporadic patients | rel=r_associated | relid=0 | w=26
  5543. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on report of 2 consanguineous arab families (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 consanguineous arab families (last curated november 2014) | rel=r_associated | relid=0 | w=26
  5544. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on report of 2 sibs in 2008
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=26
  5545. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | rel=r_associated | relid=0 | w=26
  5546. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:based on the report of one lebanese family (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:based on the report of one lebanese family (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5547. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:begins as focal dystonia, later becomes segmental or generalized
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:begins as focal dystonia, later becomes segmental or generalized | rel=r_associated | relid=0 | w=26
  5548. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:bleeding after trauma or surgery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:bleeding after trauma or surgery | rel=r_associated | relid=0 | w=26
  5549. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:both homozygous and heterozygous ednrb mutations have been found
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both homozygous and heterozygous ednrb mutations have been found | rel=r_associated | relid=0 | w=26
  5550. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:both homozygous and heterozygous mutations in lrsam1 have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:both homozygous and heterozygous mutations in lrsam1 have been reported | rel=r_associated | relid=0 | w=26
  5551. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:broad range in severity of presentation in sibships
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:broad range in severity of presentation in sibships | rel=r_associated | relid=0 | w=26
  5552. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:cancer onset usually in mid-adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cancer onset usually in mid-adulthood | rel=r_associated | relid=0 | w=26
  5553. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:candidiasis is restricted to nails of hands and feet
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:candidiasis is restricted to nails of hands and feet | rel=r_associated | relid=0 | w=26
  5554. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:cardiac failure at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiac failure at birth | rel=r_associated | relid=0 | w=26
  5555. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:cardiomyopathy may develop later in the disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:cardiomyopathy may develop later in the disease | rel=r_associated | relid=0 | w=26
  5556. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:carrier males are fertile
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:carrier males are fertile | rel=r_associated | relid=0 | w=26
  5557. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:caused by a defect in bile acid transport
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by a defect in bile acid transport | rel=r_associated | relid=0 | w=26
  5558. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:caused by inborn error in bile acid synthesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by inborn error in bile acid synthesis | rel=r_associated | relid=0 | w=26
  5559. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:caused by inheritance of the mutation on the maternal allele (imprinting)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by inheritance of the mutation on the maternal allele (imprinting) | rel=r_associated | relid=0 | w=26
  5560. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:caused by somatic mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:caused by somatic mutations | rel=r_associated | relid=0 | w=26
  5561. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:childhood onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood onset | rel=r_associated | relid=0 | w=26
  5562. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:childhood or adolescent onset (usually less than 25 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=26
  5563. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | rel=r_associated | relid=0 | w=26
  5564. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:clinical features other than liver findings may vary
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:clinical features other than liver findings may vary | rel=r_associated | relid=0 | w=26
  5565. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:common (up to 7% of the population)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:common (up to 7% of the population) | rel=r_associated | relid=0 | w=26
  5566. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:common in afrikaan population, south africa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:common in afrikaan population, south africa | rel=r_associated | relid=0 | w=26
  5567. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:common in south african whites
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:common in south african whites | rel=r_associated | relid=0 | w=26
  5568. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:complementation group b (represented by single atypical patient)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:complementation group b (represented by single atypical patient) | rel=r_associated | relid=0 | w=26
  5569. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:comprises several subtypes, including
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:comprises several subtypes, including | rel=r_associated | relid=0 | w=26
  5570. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:connatal form (type ii), most severe with death in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:connatal form (type ii), most severe with death in first decade | rel=r_associated | relid=0 | w=26
  5571. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:considered a benign disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered a benign disorder | rel=r_associated | relid=0 | w=26
  5572. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:considered to be a manifestation of the caudal regression syndrome
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered to be a manifestation of the caudal regression syndrome | rel=r_associated | relid=0 | w=26
  5573. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:considered to be a severe form of gaucher disease type ii (230900)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:considered to be a severe form of gaucher disease type ii (230900) | rel=r_associated | relid=0 | w=26
  5574. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | rel=r_associated | relid=0 | w=26
  5575. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death between 2 years of age and young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death between 2 years of age and young adulthood | rel=r_associated | relid=0 | w=26
  5576. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death by age 15 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death by age 15 months | rel=r_associated | relid=0 | w=26
  5577. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death frequent in severe infantile form
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death frequent in severe infantile form | rel=r_associated | relid=0 | w=26
  5578. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood | rel=r_associated | relid=0 | w=26
  5579. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death in childhood may occur due to end-stage renal disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in childhood may occur due to end-stage renal disease | rel=r_associated | relid=0 | w=26
  5580. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death in infancy in majority of patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy in majority of patients | rel=r_associated | relid=0 | w=26
  5581. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death in infancy secondary to pulmonary insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death in infancy secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=26
  5582. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death may occur in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=26
  5583. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death may occur in the first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death may occur in the first decade | rel=r_associated | relid=0 | w=26
  5584. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death often in early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often in early infancy | rel=r_associated | relid=0 | w=26
  5585. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:death often secondary to infectious disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:death often secondary to infectious disease | rel=r_associated | relid=0 | w=26
  5586. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:delayed separation of umbilical cord
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:delayed separation of umbilical cord | rel=r_associated | relid=0 | w=26
  5587. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:deposits may recur in graft after corneal transplantation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=26
  5588. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:described in families from galicia, spain
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in families from galicia, spain | rel=r_associated | relid=0 | w=26
  5589. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:described in one 5-generation pakistani family (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:described in one 5-generation pakistani family (last curated april 2013) | rel=r_associated | relid=0 | w=26
  5590. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | rel=r_associated | relid=0 | w=26
  5591. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:diagnosis in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis in early childhood | rel=r_associated | relid=0 | w=26
  5592. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:diagnosis in the second decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis in the second decade of life | rel=r_associated | relid=0 | w=26
  5593. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:diagnosis made if 3/7 defects are present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diagnosis made if 3/7 defects are present | rel=r_associated | relid=0 | w=26
  5594. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:difficulty walking
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:difficulty walking | rel=r_associated | relid=0 | w=26
  5595. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:disease complicated by recurrent sepsis in some patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease complicated by recurrent sepsis in some patients | rel=r_associated | relid=0 | w=26
  5596. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:disease steadily progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disease steadily progressive | rel=r_associated | relid=0 | w=26
  5597. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:disorder becomes apparent around age 2 years when patients begin to walk
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disorder becomes apparent around age 2 years when patients begin to walk | rel=r_associated | relid=0 | w=26
  5598. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5599. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:disorder usually remains stable over time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:disorder usually remains stable over time | rel=r_associated | relid=0 | w=26
  5600. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:distinct disorder from marinesco-sjogren syndrome (mss, 248800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | rel=r_associated | relid=0 | w=26
  5601. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:distinct disorder from reduced zinc in breast milk (608118)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct disorder from reduced zinc in breast milk (608118) | rel=r_associated | relid=0 | w=26
  5602. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:distinct from pseudopili annulati (613241)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=26
  5603. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:diurnal fluctuation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=26
  5604. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:due to lack of epidermal ridging, patients lack fingerprints
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:due to lack of epidermal ridging, patients lack fingerprints | rel=r_associated | relid=0 | w=26
  5605. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:dyskinesia may occur in homozygotes (1 reported case)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:dyskinesia may occur in homozygotes (1 reported case) | rel=r_associated | relid=0 | w=26
  5606. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:early death due to infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death due to infection | rel=r_associated | relid=0 | w=26
  5607. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:early death from respiratory failure may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:early death from respiratory failure may occur | rel=r_associated | relid=0 | w=26
  5608. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:electroretinogram reduction as early as 4 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:electroretinogram reduction as early as 4 years of age | rel=r_associated | relid=0 | w=26
  5609. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:encephalopathic episodes associated with increased serum and csf lactate
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:encephalopathic episodes associated with increased serum and csf lactate | rel=r_associated | relid=0 | w=26
  5610. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5611. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:epilepsy with grand mal seizures on awakening (egma, 607628)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:epilepsy with grand mal seizures on awakening (egma, 607628) | rel=r_associated | relid=0 | w=26
  5612. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:episode, syncopal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episode, syncopal | rel=r_associated | relid=0 | w=26
  5613. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:episodes brought on by fasting or infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes brought on by fasting or infection | rel=r_associated | relid=0 | w=26
  5614. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:episodes last 1 to 2 days
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes last 1 to 2 days | rel=r_associated | relid=0 | w=26
  5615. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:episodes triggered by fasting, illness, fever
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:episodes triggered by fasting, illness, fever | rel=r_associated | relid=0 | w=26
  5616. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:erythema accompanied by stinging or burning sensation in some cases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:erythema accompanied by stinging or burning sensation in some cases | rel=r_associated | relid=0 | w=26
  5617. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:estimated mutation carrier rate of 1 in 350
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:estimated mutation carrier rate of 1 in 350 | rel=r_associated | relid=0 | w=26
  5618. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:evidence of incomplete penetrance in one family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:evidence of incomplete penetrance in one family | rel=r_associated | relid=0 | w=26
  5619. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:extracutaneous manifestations are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:extracutaneous manifestations are variable | rel=r_associated | relid=0 | w=26
  5620. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5621. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:fatigue
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fatigue | rel=r_associated | relid=0 | w=26
  5622. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:favorable response to antibodies against tnf-alpha (tnfa, 191160)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | rel=r_associated | relid=0 | w=26
  5623. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:favorable response to l-dopa treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=26
  5624. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:favorable response to lenalidomide treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to lenalidomide treatment | rel=r_associated | relid=0 | w=26
  5625. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:favorable response to spironolactone
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:favorable response to spironolactone | rel=r_associated | relid=0 | w=26
  5626. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | rel=r_associated | relid=0 | w=26
  5627. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:female mutation carriers are less severely affected than male mutation carriers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female mutation carriers are less severely affected than male mutation carriers | rel=r_associated | relid=0 | w=26
  5628. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:female predominance (4:1)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female predominance (4:1) | rel=r_associated | relid=0 | w=26
  5629. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:female to male ratio 8-13:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female to male ratio 8-13:1 | rel=r_associated | relid=0 | w=26
  5630. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:female to male ratio, 1:1
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:female to male ratio, 1:1 | rel=r_associated | relid=0 | w=26
  5631. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:females carriers have more variable age at onset and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:females carriers have more variable age at onset and severity | rel=r_associated | relid=0 | w=26
  5632. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:few familial (parent offspring) cases reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=26
  5633. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:findings in muscle biopsy may be variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:findings in muscle biopsy may be variable | rel=r_associated | relid=0 | w=26
  5634. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:flares triggered by viral infection, overexertion, stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:flares triggered by viral infection, overexertion, stress | rel=r_associated | relid=0 | w=26
  5635. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | rel=r_associated | relid=0 | w=26
  5636. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:four patients reported (last curated april 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four patients reported (last curated april 2013) | rel=r_associated | relid=0 | w=26
  5637. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:four unrelated families have been reported (last curated september 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=26
  5638. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:four unrelated families of caucasian european descent have been reported (last curated february 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=26
  5639. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:four unrelated patients have been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=26
  5640. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:four unrelated patients have been reported (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=26
  5641. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:fractures occur in first few months, then decrease in frequency and then occur with ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | rel=r_associated | relid=0 | w=26
  5642. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:frequency of attacks may decrease with age or during pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequency of attacks may decrease with age or during pregnancy | rel=r_associated | relid=0 | w=26
  5643. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:frequently death in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frequently death in infancy | rel=r_associated | relid=0 | w=26
  5644. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | rel=r_associated | relid=0 | w=26
  5645. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:gait abnormality
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gait abnormality | rel=r_associated | relid=0 | w=26
  5646. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:gastrointestinal anomalies are not always present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:gastrointestinal anomalies are not always present | rel=r_associated | relid=0 | w=26
  5647. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 601680)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see 601680) | rel=r_associated | relid=0 | w=26
  5648. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see bscl1, 608594)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see bscl1, 608594) | rel=r_associated | relid=0 | w=26
  5649. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see hcfp1, 601471)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see hcfp1, 601471) | rel=r_associated | relid=0 | w=26
  5650. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see pfic1, 211600)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see pfic1, 211600) | rel=r_associated | relid=0 | w=26
  5651. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see rmd, 606072)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see rmd, 606072) | rel=r_associated | relid=0 | w=26
  5652. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see, e.g., atfb3, 607554)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., atfb3, 607554) | rel=r_associated | relid=0 | w=26
  5653. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | rel=r_associated | relid=0 | w=26
  5654. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity of axonal cmt (see cmt2a 118210)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | rel=r_associated | relid=0 | w=26
  5655. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity, see fhm1 141500
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:genetic heterogeneity, see fhm1 141500 | rel=r_associated | relid=0 | w=26
  5656. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:global developmental delay
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:global developmental delay | rel=r_associated | relid=0 | w=26
  5657. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:good response to medication
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:good response to medication | rel=r_associated | relid=0 | w=26
  5658. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:health data repository:id:pt:repository:nom
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:health data repository:id:pt:repository:nom | rel=r_associated | relid=0 | w=26
  5659. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:hearing loss progresses to profound deafness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hearing loss progresses to profound deafness | rel=r_associated | relid=0 | w=26
  5660. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:heterozygotes have mild, transient hypothyroidism in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes have mild, transient hypothyroidism in infancy | rel=r_associated | relid=0 | w=26
  5661. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | rel=r_associated | relid=0 | w=26
  5662. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | rel=r_associated | relid=0 | w=26
  5663. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | rel=r_associated | relid=0 | w=26
  5664. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:high frequencies affected before low frequencies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=26
  5665. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:high frequency in tibetan individuals
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high frequency in tibetan individuals | rel=r_associated | relid=0 | w=26
  5666. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:high pain threshold
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:high pain threshold | rel=r_associated | relid=0 | w=26
  5667. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:highly variable clinical phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=26
  5668. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:highly variable phenotype and severity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=26
  5669. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | rel=r_associated | relid=0 | w=26
  5670. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> 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:two unrelated families have been reported (last curated february 2016) | 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=26
  5671. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:homozygous patients have earlier-onset and more severe disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:homozygous patients have earlier-onset and more severe disease | rel=r_associated | relid=0 | w=26
  5672. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> 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:two unrelated families have been reported (last curated february 2016) | 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=26
  5673. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:improvement of epimetaphyseal changes with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:improvement of epimetaphyseal changes with age | rel=r_associated | relid=0 | w=26
  5674. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incidence 1 in 30,000 male births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=26
  5675. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incidence 1-1.5/1,000 live births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=26
  5676. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incidence in finland is 1 in 76,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence in finland is 1 in 76,000 births | rel=r_associated | relid=0 | w=26
  5677. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incidence is less than 1 in 70,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence is less than 1 in 70,000 births | rel=r_associated | relid=0 | w=26
  5678. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 3,500 boys
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=26
  5679. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 57,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=26
  5680. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incidence of 1/100,000 in italy and finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1/100,000 in italy and finland | rel=r_associated | relid=0 | w=26
  5681. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incomplete penetrance (range 13% to 77% by 50 years of age)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance (range 13% to 77% by 50 years of age) | rel=r_associated | relid=0 | w=26
  5682. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | rel=r_associated | relid=0 | w=26
  5683. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:incomplete penetrance of the cardiac phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incomplete penetrance of the cardiac phenotype | rel=r_associated | relid=0 | w=26
  5684. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased bleeding after surgery
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased bleeding after surgery | rel=r_associated | relid=0 | w=26
  5685. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased frequency in ashkenazi jewish population (1/100 are carriers)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | rel=r_associated | relid=0 | w=26
  5686. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased frequency in ashkenazi jewish population and in finland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in ashkenazi jewish population and in finland | rel=r_associated | relid=0 | w=26
  5687. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased frequency in individuals originating from western scotland
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in individuals originating from western scotland | rel=r_associated | relid=0 | w=26
  5688. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | rel=r_associated | relid=0 | w=26
  5689. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased paternal age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased paternal age | rel=r_associated | relid=0 | w=26
  5690. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased risk of developing multiple primary cancers
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of developing multiple primary cancers | rel=r_associated | relid=0 | w=26
  5691. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:increased risk of myeloproliferative disorders in those with somatic mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=26
  5692. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | rel=r_associated | relid=0 | w=26
  5693. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:infections may precipitate ketotic episodes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=26
  5694. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:intrafamilial variability in degree of hypotrichosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:intrafamilial variability in degree of hypotrichosis | rel=r_associated | relid=0 | w=26
  5695. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | rel=r_associated | relid=0 | w=26
  5696. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:juvenile onset 4 years to puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=26
  5697. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:laboratory comment:txt:pt:report:nar
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:laboratory comment:txt:pt:report:nar | rel=r_associated | relid=0 | w=26
  5698. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:late-adult onset has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=26
  5699. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:later onset has been reported (third or fourth decades)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:later onset has been reported (third or fourth decades) | rel=r_associated | relid=0 | w=26
  5700. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:leg pain during childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=26
  5701. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:lethal in males
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lethal in males | rel=r_associated | relid=0 | w=26
  5702. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:lifelong occurrence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=26
  5703. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | rel=r_associated | relid=0 | w=26
  5704. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5705. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5706. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:live born infants die within few hours of birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=26
  5707. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:liveborn often die within first week of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=26
  5708. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:loss of independent ambulation in the second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:loss of independent ambulation in the second decade | rel=r_associated | relid=0 | w=26
  5709. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:luton and torrance type differentiated based on histologic findings in cartilage
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:luton and torrance type differentiated based on histologic findings in cartilage | rel=r_associated | relid=0 | w=26
  5710. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | rel=r_associated | relid=0 | w=26
  5711. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:macular degeneration only occurs in some patients at very late age (over 70)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:macular degeneration only occurs in some patients at very late age (over 70) | rel=r_associated | relid=0 | w=26
  5712. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | rel=r_associated | relid=0 | w=26
  5713. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:majority of cases diagnosed at age 10-15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=26
  5714. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:majority of children die before age 2
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=26
  5715. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:majority of patients are pyridoxine-responsive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of patients are pyridoxine-responsive | rel=r_associated | relid=0 | w=26
  5716. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:majority of patients from italy and southwestern united states
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:majority of patients from italy and southwestern united states | rel=r_associated | relid=0 | w=26
  5717. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:male predominance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male predominance | rel=r_associated | relid=0 | w=26
  5718. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:male-limited trait
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:male-limited trait | rel=r_associated | relid=0 | w=26
  5719. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:manifestations of cushing syndrome may be mild
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:manifestations of cushing syndrome may be mild | rel=r_associated | relid=0 | w=26
  5720. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:many become wheelchair bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many become wheelchair bound | rel=r_associated | relid=0 | w=26
  5721. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:many patients recover normally
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:many patients recover normally | rel=r_associated | relid=0 | w=26
  5722. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | rel=r_associated | relid=0 | w=26
  5723. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:massive aortic aneurysm can cause airway compression in affected infants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:massive aortic aneurysm can cause airway compression in affected infants | rel=r_associated | relid=0 | w=26
  5724. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5725. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be due to imprinting defect
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=26
  5726. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be fatal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be fatal | rel=r_associated | relid=0 | w=26
  5727. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be lethal in infancy if untreated
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be lethal in infancy if untreated | rel=r_associated | relid=0 | w=26
  5728. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | rel=r_associated | relid=0 | w=26
  5729. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be progressive | rel=r_associated | relid=0 | w=26
  5730. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be triggered by increased practice
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be triggered by increased practice | rel=r_associated | relid=0 | w=26
  5731. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may be x-linked
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may be x-linked | rel=r_associated | relid=0 | w=26
  5732. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may have less severe phenotype than rsts patients with crebbp mutations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may have less severe phenotype than rsts patients with crebbp mutations | rel=r_associated | relid=0 | w=26
  5733. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may manifest as 'ataxic' phenotype without parkinsonian features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may manifest as 'ataxic' phenotype without parkinsonian features | rel=r_associated | relid=0 | w=26
  5734. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=26
  5735. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may or may not be responsive to pyridoxine (vitamin b6) treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | rel=r_associated | relid=0 | w=26
  5736. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may respond to cholinesterase inhibitors of amifampridine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may respond to cholinesterase inhibitors of amifampridine | rel=r_associated | relid=0 | w=26
  5737. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:may result in death in neonatal period or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:may result in death in neonatal period or early childhood | rel=r_associated | relid=0 | w=26
  5738. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mean age at onset 24 years (range 14 to 33 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=26
  5739. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mean age at onset of muscle disease is 42 years (range 24-61)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mean age at onset of muscle disease is 42 years (range 24-61) | rel=r_associated | relid=0 | w=26
  5740. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:median age of diagnosis is 28 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=26
  5741. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mental retardation likely secondary to neonatal hypoxia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mental retardation likely secondary to neonatal hypoxia | rel=r_associated | relid=0 | w=26
  5742. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mild cases show clinical, biochemical, and mri improvement after the second year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | rel=r_associated | relid=0 | w=26
  5743. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mild phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mild phenotype | rel=r_associated | relid=0 | w=26
  5744. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | rel=r_associated | relid=0 | w=26
  5745. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=26
  5746. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most cases sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most cases sporadic | rel=r_associated | relid=0 | w=26
  5747. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most common form of inherited, congenital hydrocephalus
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common form of inherited, congenital hydrocephalus | rel=r_associated | relid=0 | w=26
  5748. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most common inherited bleeding disorder
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most common inherited bleeding disorder | rel=r_associated | relid=0 | w=26
  5749. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most patients are asymptomatic and are detected by newborn screening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients are asymptomatic and are detected by newborn screening | rel=r_associated | relid=0 | w=26
  5750. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most patients become seizure-free by age 3 or 4 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become seizure-free by age 3 or 4 years | rel=r_associated | relid=0 | w=26
  5751. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most patients become wheelchair-bound in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients become wheelchair-bound in adolescence | rel=r_associated | relid=0 | w=26
  5752. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most patients present in infancy with anemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most patients present in infancy with anemia | rel=r_associated | relid=0 | w=26
  5753. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:most pregnancies with affected fetuses resulted in elective termination
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:most pregnancies with affected fetuses resulted in elective termination | rel=r_associated | relid=0 | w=26
  5754. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:motor delay
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:motor delay | rel=r_associated | relid=0 | w=26
  5755. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:murcs association
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:murcs association | rel=r_associated | relid=0 | w=26
  5756. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:muscle involvement shows onset at birth or in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:muscle involvement shows onset at birth or in infancy | rel=r_associated | relid=0 | w=26
  5757. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mutation found in 1 puerto rican family (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation found in 1 puerto rican family (last curated august 2014) | rel=r_associated | relid=0 | w=26
  5758. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | rel=r_associated | relid=0 | w=26
  5759. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:mutation in rp9 gene in family (607331.0001) likely not pathogenic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | rel=r_associated | relid=0 | w=26
  5760. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:neonatal lethal due to respiratory insufficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neonatal lethal due to respiratory insufficiency | rel=r_associated | relid=0 | w=26
  5761. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:neurologic involvement may occur in the absence of visceral involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:neurologic involvement may occur in the absence of visceral involvement | rel=r_associated | relid=0 | w=26
  5762. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:no clinical details provided by the authors
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no clinical details provided by the authors | rel=r_associated | relid=0 | w=26
  5763. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:no clinical manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no clinical manifestations | rel=r_associated | relid=0 | w=26
  5764. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:no consistent disease phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no consistent disease phenotype | rel=r_associated | relid=0 | w=26
  5765. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:no history of familial hypercholesterolemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no history of familial hypercholesterolemia | rel=r_associated | relid=0 | w=26
  5766. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:no male-to-male transmission
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no male-to-male transmission | rel=r_associated | relid=0 | w=26
  5767. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:no peripheral signs of hypothyroidism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no peripheral signs of hypothyroidism | rel=r_associated | relid=0 | w=26
  5768. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:no phenotype in heterozygotes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:no phenotype in heterozygotes | rel=r_associated | relid=0 | w=26
  5769. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:normal alleles have 25 to 44 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal alleles have 25 to 44 repeats | rel=r_associated | relid=0 | w=26
  5770. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:normal development before onset of seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal development before onset of seizures | rel=r_associated | relid=0 | w=26
  5771. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:normal fertility
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal fertility | rel=r_associated | relid=0 | w=26
  5772. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:normal first month
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:normal first month | rel=r_associated | relid=0 | w=26
  5773. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:not all patients have dysmorphic facial features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:not all patients have dysmorphic facial features | rel=r_associated | relid=0 | w=26
  5774. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:obligate female carriers may show mild signs of muscle weakness, especially of the face
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | rel=r_associated | relid=0 | w=26
  5775. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | rel=r_associated | relid=0 | w=26
  5776. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:occurs in full-term infants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs in full-term infants | rel=r_associated | relid=0 | w=26
  5777. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:occurs more frequently in females
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:occurs more frequently in females | rel=r_associated | relid=0 | w=26
  5778. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:often identified in newborn period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:often identified in newborn period | rel=r_associated | relid=0 | w=26
  5779. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=26
  5780. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one consanguineous family has been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
  5781. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one consanguineous pakistani family has been described (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous pakistani family has been described (last curated march 2015) | rel=r_associated | relid=0 | w=26
  5782. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one consanguineous tunisian family has been reported (last curated june 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous tunisian family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=26
  5783. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one consanguineous turkish family has been reported (last curated august 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one consanguineous turkish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=26
  5784. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (as of 4/2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (as of 4/2010) | rel=r_associated | relid=0 | w=26
  5785. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated april 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=26
  5786. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  5787. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated november 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=26
  5788. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5789. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family with 2 affected fetuses has been reported (as of august 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 2 affected fetuses has been reported (as of august 2011) | rel=r_associated | relid=0 | w=26
  5790. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family with 3 affected males has been reported (as of october 2011)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with 3 affected males has been reported (as of october 2011) | rel=r_associated | relid=0 | w=26
  5791. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one family with confirmed genetic basis has been reported (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one family with confirmed genetic basis has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=26
  5792. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one french family has been reported (as of march 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one french family has been reported (as of march 2012) | rel=r_associated | relid=0 | w=26
  5793. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one large family has been reported (last curated june 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one large family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=26
  5794. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one of the most common autoimmune diseases
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one of the most common autoimmune diseases | rel=r_associated | relid=0 | w=26
  5795. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (as of august 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (as of august 2010) | rel=r_associated | relid=0 | w=26
  5796. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (last curated april 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=26
  5797. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one patient reported (last curated november 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient reported (last curated november 2013) | rel=r_associated | relid=0 | w=26
  5798. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one patient reported with slitrk1 mutation (as of january 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient reported with slitrk1 mutation (as of january 2010) | rel=r_associated | relid=0 | w=26
  5799. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one patient was less severely affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient was less severely affected | rel=r_associated | relid=0 | w=26
  5800. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one patient with additional features of fanconi anemia has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one patient with additional features of fanconi anemia has been reported | rel=r_associated | relid=0 | w=26
  5801. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:one report of brother and sister from nonconsanguineous parents
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:one report of brother and sister from nonconsanguineous parents | rel=r_associated | relid=0 | w=26
  5802. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset 50 to 65 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset 50 to 65 years | rel=r_associated | relid=0 | w=26
  5803. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset ages 2 to 14 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset ages 2 to 14 years | rel=r_associated | relid=0 | w=26
  5804. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset at 6-9 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at 6-9 months | rel=r_associated | relid=0 | w=26
  5805. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset at age 3-5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at age 3-5 years | rel=r_associated | relid=0 | w=26
  5806. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset at age 5 to 15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at age 5 to 15 years | rel=r_associated | relid=0 | w=26
  5807. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset at day 1 of life has been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset at day 1 of life has been reported | rel=r_associated | relid=0 | w=26
  5808. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset between 3 and 6 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 3 and 6 months of age | rel=r_associated | relid=0 | w=26
  5809. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset between 5 to 28 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between 5 to 28 years of age | rel=r_associated | relid=0 | w=26
  5810. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset between birth and 3 months of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset between birth and 3 months of age | rel=r_associated | relid=0 | w=26
  5811. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset birth to early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset birth to early childhood | rel=r_associated | relid=0 | w=26
  5812. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset day of life 1-10 in infants fed lactose-containing milk
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset day of life 1-10 in infants fed lactose-containing milk | rel=r_associated | relid=0 | w=26
  5813. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5814. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> 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:two unrelated families have been reported (last curated february 2016) | 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=26
  5815. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset early in first decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset early in first decade | rel=r_associated | relid=0 | w=26
  5816. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset from first to third decades of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset from first to third decades of life | rel=r_associated | relid=0 | w=26
  5817. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in adolescence or adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in adolescence or adulthood | rel=r_associated | relid=0 | w=26
  5818. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in adolescence or young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in adolescence or young adulthood | rel=r_associated | relid=0 | w=26
  5819. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in childhood (5 to 10 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (5 to 10 years) | rel=r_associated | relid=0 | w=26
  5820. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in childhood (range 1 to 9 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood (range 1 to 9 years) | rel=r_associated | relid=0 | w=26
  5821. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in childhood of blistering and pigmentary changes
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in childhood of blistering and pigmentary changes | rel=r_associated | relid=0 | w=26
  5822. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in early childhood (infancy to 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early childhood (infancy to 6 years) | rel=r_associated | relid=0 | w=26
  5823. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in early infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early infancy | rel=r_associated | relid=0 | w=26
  5824. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in early twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in early twenties | rel=r_associated | relid=0 | w=26
  5825. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in first 6 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in first 6 months of life | rel=r_associated | relid=0 | w=26
  5826. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in infancy and third decade had been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy and third decade had been reported | rel=r_associated | relid=0 | w=26
  5827. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in infancy or early childhood (birth to 6 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in infancy or early childhood (birth to 6 years) | rel=r_associated | relid=0 | w=26
  5828. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in late adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late adulthood | rel=r_associated | relid=0 | w=26
  5829. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in late adulthood (44 to 73 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late adulthood (44 to 73 years) | rel=r_associated | relid=0 | w=26
  5830. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in late childhood or adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in late childhood or adulthood | rel=r_associated | relid=0 | w=26
  5831. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in mid-adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in mid-adulthood | rel=r_associated | relid=0 | w=26
  5832. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in teens or young adulthood (range 13 to 45 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in teens or young adulthood (range 13 to 45 years) | rel=r_associated | relid=0 | w=26
  5833. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in the first 2 years of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in the first 2 years of life | rel=r_associated | relid=0 | w=26
  5834. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5835. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in third decade | rel=r_associated | relid=0 | w=26
  5836. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset in utero in severely affected patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset in utero in severely affected patients | rel=r_associated | relid=0 | w=26
  5837. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset late childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset late childhood | rel=r_associated | relid=0 | w=26
  5838. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of abnormal eye movements in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of abnormal eye movements in early childhood | rel=r_associated | relid=0 | w=26
  5839. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of crises in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of crises in early childhood | rel=r_associated | relid=0 | w=26
  5840. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of dementia in the thirties or forties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of dementia in the thirties or forties | rel=r_associated | relid=0 | w=26
  5841. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of disease 3-8 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of disease 3-8 years | rel=r_associated | relid=0 | w=26
  5842. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of encephalopathy between ages 2 and 3 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of encephalopathy between ages 2 and 3 years | rel=r_associated | relid=0 | w=26
  5843. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of hemolytic anemia shortly after birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hemolytic anemia shortly after birth | rel=r_associated | relid=0 | w=26
  5844. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | rel=r_associated | relid=0 | w=26
  5845. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of hyperuricemia or gout in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of hyperuricemia or gout in young adulthood | rel=r_associated | relid=0 | w=26
  5846. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5847. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of lipodystrophy later in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of lipodystrophy later in childhood | rel=r_associated | relid=0 | w=26
  5848. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of lymphedema around puberty
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=26
  5849. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of muscle weakness around age 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of muscle weakness around age 5 years | rel=r_associated | relid=0 | w=26
  5850. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of muscle weakness in fifth decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of muscle weakness in fifth decade | rel=r_associated | relid=0 | w=26
  5851. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of palmoplantar hyperkeratosis 7-8 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of palmoplantar hyperkeratosis 7-8 years of age | rel=r_associated | relid=0 | w=26
  5852. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of parkinsonism in early twenties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of parkinsonism in early twenties | rel=r_associated | relid=0 | w=26
  5853. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of seizures in first 6 months of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of seizures in first 6 months of life | rel=r_associated | relid=0 | w=26
  5854. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of skin lesions at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of skin lesions at birth | rel=r_associated | relid=0 | w=26
  5855. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in early childhood | rel=r_associated | relid=0 | w=26
  5856. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms in second or third decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms in second or third decade | rel=r_associated | relid=0 | w=26
  5857. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms usually between 12-15 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of symptoms usually between 12-15 years | rel=r_associated | relid=0 | w=26
  5858. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset of visual dysfunction in early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=26
  5859. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset usually at birth, but may occur later
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually at birth, but may occur later | rel=r_associated | relid=0 | w=26
  5860. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset usually in infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in infancy | rel=r_associated | relid=0 | w=26
  5861. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5862. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset usually in second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in second decade | rel=r_associated | relid=0 | w=26
  5863. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:onset usually in young adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:onset usually in young adulthood | rel=r_associated | relid=0 | w=26
  5864. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> 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:two unrelated families have been reported (last curated february 2016) | 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=26
  5865. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | rel=r_associated | relid=0 | w=26
  5866. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:partial or absent response to steroid treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:partial or absent response to steroid treatment | rel=r_associated | relid=0 | w=26
  5867. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:pathogenic alleles contain 52 to 86 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pathogenic alleles contain 52 to 86 repeats | rel=r_associated | relid=0 | w=26
  5868. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patient with truncating mutations are more likely to develop neurologic abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patient with truncating mutations are more likely to develop neurologic abnormalities | rel=r_associated | relid=0 | w=26
  5869. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients achieve ambulation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients achieve ambulation | rel=r_associated | relid=0 | w=26
  5870. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients can have als, ftd, or both
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients can have als, ftd, or both | rel=r_associated | relid=0 | w=26
  5871. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients gradually develop tolerance to carbohydrates over time
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients gradually develop tolerance to carbohydrates over time | rel=r_associated | relid=0 | w=26
  5872. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients have no abnormalities of hair, teeth, or bone
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients have no abnormalities of hair, teeth, or bone | rel=r_associated | relid=0 | w=26
  5873. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | rel=r_associated | relid=0 | w=26
  5874. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients may become wheelchair-bound
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may become wheelchair-bound | rel=r_associated | relid=0 | w=26
  5875. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients may become wheelchair-bound after about 12 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may become wheelchair-bound after about 12 years | rel=r_associated | relid=0 | w=26
  5876. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients may have a combination phenotype of pmc and hypp (see 603967.0005)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | rel=r_associated | relid=0 | w=26
  5877. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients of brazilian origin have a pure cerebellar atrophy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients of brazilian origin have a pure cerebellar atrophy | rel=r_associated | relid=0 | w=26
  5878. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients usually require total thyroidectomy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients usually require total thyroidectomy | rel=r_associated | relid=0 | w=26
  5879. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients with contiguous gene deletion of 8q24 have more severe features
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with contiguous gene deletion of 8q24 have more severe features | rel=r_associated | relid=0 | w=26
  5880. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | rel=r_associated | relid=0 | w=26
  5881. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients with later onset have better prognosis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with later onset have better prognosis | rel=r_associated | relid=0 | w=26
  5882. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients with longer disease duration show motor neuron involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with longer disease duration show motor neuron involvement | rel=r_associated | relid=0 | w=26
  5883. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients with meb have less severe features and longer survival
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:patients with meb have less severe features and longer survival | rel=r_associated | relid=0 | w=26
  5884. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5885. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5886. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:penetrance 86% by 50 years of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:penetrance 86% by 50 years of age | rel=r_associated | relid=0 | w=26
  5887. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | rel=r_associated | relid=0 | w=26
  5888. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:peripheral neuropathy occurs in adulthood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:peripheral neuropathy occurs in adulthood | rel=r_associated | relid=0 | w=26
  5889. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:phenotypic heterogeneity
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic heterogeneity | rel=r_associated | relid=0 | w=26
  5890. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | rel=r_associated | relid=0 | w=26
  5891. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | rel=r_associated | relid=0 | w=26
  5892. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:pigmentation not always butterfly-shaped
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=26
  5893. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:plasma cholinesterase measurement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:plasma cholinesterase measurement | rel=r_associated | relid=0 | w=26
  5894. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:pneumocytosis carinii infection (12 to 42%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pneumocytosis carinii infection (12 to 42%) | rel=r_associated | relid=0 | w=26
  5895. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:possibly allelic to cohen syndrome (216550)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:possibly allelic to cohen syndrome (216550) | rel=r_associated | relid=0 | w=26
  5896. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:precipitated by febrile illness and fasting
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:precipitated by febrile illness and fasting | rel=r_associated | relid=0 | w=26
  5897. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:predisposition to neoplasia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:predisposition to neoplasia | rel=r_associated | relid=0 | w=26
  5898. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:predominantly occurs in young males with high rate of atopic disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:predominantly occurs in young males with high rate of atopic disease | rel=r_associated | relid=0 | w=26
  5899. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:preferably treated with iodine supplementation rather than thyroid hormone replacement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | rel=r_associated | relid=0 | w=26
  5900. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:presentation at 3-6 weeks of age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation at 3-6 weeks of age | rel=r_associated | relid=0 | w=26
  5901. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:presentation between 6-18 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation between 6-18 months | rel=r_associated | relid=0 | w=26
  5902. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:presentation in first year of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presentation in first year of life | rel=r_associated | relid=0 | w=26
  5903. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | rel=r_associated | relid=0 | w=26
  5904. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 1,500
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 1,500 | rel=r_associated | relid=0 | w=26
  5905. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 3,900 in south africa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 3,900 in south africa | rel=r_associated | relid=0 | w=26
  5906. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 40,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 40,000 | rel=r_associated | relid=0 | w=26
  5907. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 40,000 to 1 in 80,000
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalence of 1 in 40,000 to 1 in 80,000 | rel=r_associated | relid=0 | w=26
  5908. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | rel=r_associated | relid=0 | w=26
  5909. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:protein s deficiency is found in 2-3% of patients with thromboembolism
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:protein s deficiency is found in 2-3% of patients with thromboembolism | rel=r_associated | relid=0 | w=26
  5910. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:protracted course
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:protracted course | rel=r_associated | relid=0 | w=26
  5911. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:provoked by crying or emotional upset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:provoked by crying or emotional upset | rel=r_associated | relid=0 | w=26
  5912. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:ptosis is usually presenting feature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ptosis is usually presenting feature | rel=r_associated | relid=0 | w=26
  5913. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | rel=r_associated | relid=0 | w=26
  5914. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:radioresistant dna synthesis
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:radioresistant dna synthesis | rel=r_associated | relid=0 | w=26
  5915. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:rare patients with homozygous null mutations have most severe disease
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rare patients with homozygous null mutations have most severe disease | rel=r_associated | relid=0 | w=26
  5916. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:rarely reported in infants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rarely reported in infants | rel=r_associated | relid=0 | w=26
  5917. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | rel=r_associated | relid=0 | w=26
  5918. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | rel=r_associated | relid=0 | w=26
  5919. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:reduced penetrance (about 60%)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance (about 60%) | rel=r_associated | relid=0 | w=26
  5920. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | rel=r_associated | relid=0 | w=26
  5921. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:relatively benign course after acute episodes in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relatively benign course after acute episodes in childhood | rel=r_associated | relid=0 | w=26
  5922. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:relatively mild cutis laxa, associated with severe vascular abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relatively mild cutis laxa, associated with severe vascular abnormalities | rel=r_associated | relid=0 | w=26
  5923. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:relatively slow progression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:relatively slow progression | rel=r_associated | relid=0 | w=26
  5924. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:repeat is unstable if > 52 repeats
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:repeat is unstable if > 52 repeats | rel=r_associated | relid=0 | w=26
  5925. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:reported in a large hutterite family
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported in a large hutterite family | rel=r_associated | relid=0 | w=26
  5926. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:reported patients are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reported patients are asymptomatic | rel=r_associated | relid=0 | w=26
  5927. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:resembles intrauterine torch infection but without intrauterine infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:resembles intrauterine torch infection but without intrauterine infection | rel=r_associated | relid=0 | w=26
  5928. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:respiratory distress may be precipitated by viral respiratory infection
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:respiratory distress may be precipitated by viral respiratory infection | rel=r_associated | relid=0 | w=26
  5929. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:responsive to thiazide diuretics
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:responsive to thiazide diuretics | rel=r_associated | relid=0 | w=26
  5930. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:reticulate hyperpigmentation onset birth - 2 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:reticulate hyperpigmentation onset birth - 2 years | rel=r_associated | relid=0 | w=26
  5931. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | rel=r_associated | relid=0 | w=26
  5932. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:risk of sudden death due to cardiac arrhythmias
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:risk of sudden death due to cardiac arrhythmias | rel=r_associated | relid=0 | w=26
  5933. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | rel=r_associated | relid=0 | w=26
  5934. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:second most common form of usher syndrome type i
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:second most common form of usher syndrome type i | rel=r_associated | relid=0 | w=26
  5935. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:secondary prevention, avoid smoking, alcohol, and oxidants
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:secondary prevention, avoid smoking, alcohol, and oxidants | rel=r_associated | relid=0 | w=26
  5936. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also autosomal dominant robinow syndrome (180700)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also autosomal dominant robinow syndrome (180700) | rel=r_associated | relid=0 | w=26
  5937. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also congenital stiff person syndrome (149400)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also congenital stiff person syndrome (149400) | rel=r_associated | relid=0 | w=26
  5938. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5939. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also later childhood-onset form (300718)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also later childhood-onset form (300718) | rel=r_associated | relid=0 | w=26
  5940. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | rel=r_associated | relid=0 | w=26
  5941. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also pseudopseudohypoparathyroidism (612463)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also pseudopseudohypoparathyroidism (612463) | rel=r_associated | relid=0 | w=26
  5942. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also simplex eb with pyloric atresia (612138)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also simplex eb with pyloric atresia (612138) | rel=r_associated | relid=0 | w=26
  5943. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see also x-linked edmd (310300)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see also x-linked edmd (310300) | rel=r_associated | relid=0 | w=26
  5944. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:see recessive form optb4 (611490)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:see recessive form optb4 (611490) | rel=r_associated | relid=0 | w=26
  5945. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:seizure severity and frequency tend to improve with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizure severity and frequency tend to improve with age | rel=r_associated | relid=0 | w=26
  5946. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:seizures are refractory to medication
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures are refractory to medication | rel=r_associated | relid=0 | w=26
  5947. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:seizures easily controlled by medications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures easily controlled by medications | rel=r_associated | relid=0 | w=26
  5948. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:seizures tend to occur upon awakening
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:seizures tend to occur upon awakening | rel=r_associated | relid=0 | w=26
  5949. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:sensorineural hearing loss may be presenting feature
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sensorineural hearing loss may be presenting feature | rel=r_associated | relid=0 | w=26
  5950. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5951. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5952. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  5953. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5954. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5955. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  5956. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:severe infantile cases usually die by 6 months
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:severe infantile cases usually die by 6 months | rel=r_associated | relid=0 | w=26
  5957. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | rel=r_associated | relid=0 | w=26
  5958. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:skeletal abnormalities are variable
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skeletal abnormalities are variable | rel=r_associated | relid=0 | w=26
  5959. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:skeletal features are variably present
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skeletal features are variably present | rel=r_associated | relid=0 | w=26
  5960. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:skin lesions are fully penetrant by second decade
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:skin lesions are fully penetrant by second decade | rel=r_associated | relid=0 | w=26
  5961. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:sleepwalking usually remits in adolescence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sleepwalking usually remits in adolescence | rel=r_associated | relid=0 | w=26
  5962. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:slowly or nonprogressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:slowly or nonprogressive | rel=r_associated | relid=0 | w=26
  5963. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some affected family members are asymptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some affected family members are asymptomatic | rel=r_associated | relid=0 | w=26
  5964. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some familial occurrence, most de novo aberrations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some familial occurrence, most de novo aberrations | rel=r_associated | relid=0 | w=26
  5965. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some features may be progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some features may be progressive | rel=r_associated | relid=0 | w=26
  5966. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | rel=r_associated | relid=0 | w=26
  5967. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some females are affected
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some females are affected | rel=r_associated | relid=0 | w=26
  5968. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients can hold menial jobs
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients can hold menial jobs | rel=r_associated | relid=0 | w=26
  5969. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients develop ophthalmoplegia in middle age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients develop ophthalmoplegia in middle age | rel=r_associated | relid=0 | w=26
  5970. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients do not develop renal failure
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients do not develop renal failure | rel=r_associated | relid=0 | w=26
  5971. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | rel=r_associated | relid=0 | w=26
  5972. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  5973. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients have cessation of seizures at a mean of 12 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have cessation of seizures at a mean of 12 years | rel=r_associated | relid=0 | w=26
  5974. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients have later onset of the disorder as young adults
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have later onset of the disorder as young adults | rel=r_associated | relid=0 | w=26
  5975. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients have milder persistent blistering
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have milder persistent blistering | rel=r_associated | relid=0 | w=26
  5976. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients have subclinical exocrine pancreatic deficiency
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients have subclinical exocrine pancreatic deficiency | rel=r_associated | relid=0 | w=26
  5977. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients may develop concurrent failure to thrive and dyslipidemia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may develop concurrent failure to thrive and dyslipidemia | rel=r_associated | relid=0 | w=26
  5978. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients may show deterioration with infections
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients may show deterioration with infections | rel=r_associated | relid=0 | w=26
  5979. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients require insulin for treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients require insulin for treatment | rel=r_associated | relid=0 | w=26
  5980. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients show onset later in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients show onset later in childhood | rel=r_associated | relid=0 | w=26
  5981. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients survive infancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients survive infancy | rel=r_associated | relid=0 | w=26
  5982. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:some patients with heterozygous mutations may be symptomatic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:some patients with heterozygous mutations may be symptomatic | rel=r_associated | relid=0 | w=26
  5983. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:spontaneous improvement or resolution of skin creases in childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous improvement or resolution of skin creases in childhood | rel=r_associated | relid=0 | w=26
  5984. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:spontaneous resolution by 12 months of age with no recurrence later in life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:spontaneous resolution by 12 months of age with no recurrence later in life | rel=r_associated | relid=0 | w=26
  5985. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | rel=r_associated | relid=0 | w=26
  5986. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:subclavian artery supply disruption in embryogenesis has been suggested as etiology
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | rel=r_associated | relid=0 | w=26
  5987. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:subtype 3c (231005) comprises cardiovascular calcifications
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:subtype 3c (231005) comprises cardiovascular calcifications | rel=r_associated | relid=0 | w=26
  5988. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:sudden death in affected females occurs in the forties
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden death in affected females occurs in the forties | rel=r_associated | relid=0 | w=26
  5989. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:sudden infant death may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:sudden infant death may occur | rel=r_associated | relid=0 | w=26
  5990. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:survival past infancy is rare
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:survival past infancy is rare | rel=r_associated | relid=0 | w=26
  5991. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | rel=r_associated | relid=0 | w=26
  5992. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:symptoms are aggravated by febrile illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms are aggravated by febrile illness | rel=r_associated | relid=0 | w=26
  5993. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:symptoms may be aggravated by acute illness
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms may be aggravated by acute illness | rel=r_associated | relid=0 | w=26
  5994. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:symptoms may decrease after age 30 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms may decrease after age 30 years | rel=r_associated | relid=0 | w=26
  5995. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:symptoms often decrease or remit with age
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms often decrease or remit with age | rel=r_associated | relid=0 | w=26
  5996. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:symptoms present from infancy or early childhood
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=26
  5997. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:symptoms usually resolve without treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:symptoms usually resolve without treatment | rel=r_associated | relid=0 | w=26
  5998. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:systemic amyloid deposition may occur
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:systemic amyloid deposition may occur | rel=r_associated | relid=0 | w=26
  5999. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:temperature instability
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:temperature instability | rel=r_associated | relid=0 | w=26
  6000. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:this specific disorder has been described in 1 family (ke)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:this specific disorder has been described in 1 family (ke) | rel=r_associated | relid=0 | w=26
  6001. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:three families of ashkenazi jewish descent have been reported (last curated march 2016)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=26
  6002. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:three forms of cjd: acquired (including variant), sporadic, and inherited
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three forms of cjd: acquired (including variant), sporadic, and inherited | rel=r_associated | relid=0 | w=26
  6003. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:three girls from 2 unrelated families have been reported (last curated june 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three girls from 2 unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=26
  6004. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:three patients have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three patients have been reported | rel=r_associated | relid=0 | w=26
  6005. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:three sibs in one consanguineous iranian family have been described (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | rel=r_associated | relid=0 | w=26
  6006. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:three unrelated patients have been reported (last curated january 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:three unrelated patients have been reported (last curated january 2010) | rel=r_associated | relid=0 | w=26
  6007. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:trauma, im injection, surgery can be foci of ectopic ossification
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:trauma, im injection, surgery can be foci of ectopic ossification | rel=r_associated | relid=0 | w=26
  6008. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:treatment with dichloroacetate (dca) prolongs survival
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with dichloroacetate (dca) prolongs survival | rel=r_associated | relid=0 | w=26
  6009. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:treatment with folinic acid offers some benefit for anemia and seizure control
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with folinic acid offers some benefit for anemia and seizure control | rel=r_associated | relid=0 | w=26
  6010. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:treatment with serine and glycine replacement may alleviate features if started at birth
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with serine and glycine replacement may alleviate features if started at birth | rel=r_associated | relid=0 | w=26
  6011. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:treatment with sulfonylurea can be effective
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=26
  6012. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:tremors develop after seizures
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:tremors develop after seizures | rel=r_associated | relid=0 | w=26
  6013. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two families of french-canadian origin have been reported (last curated december 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two families of french-canadian origin have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=26
  6014. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26
  6015. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two forms: iia (severe) and iib (mild)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two forms: iia (severe) and iib (mild) | rel=r_associated | relid=0 | w=26
  6016. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | rel=r_associated | relid=0 | w=26
  6017. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two main presentations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two main presentations | rel=r_associated | relid=0 | w=26
  6018. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two mother and child pairs have been reported (last curated july 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two mother and child pairs have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=26
  6019. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | rel=r_associated | relid=0 | w=26
  6020. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two pakistani families have been reported (last curated december 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two pakistani families have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=26
  6021. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=26
  6022. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two patients from 1 italian family have been reported (as of april 2010)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two patients from 1 italian family have been reported (as of april 2010) | rel=r_associated | relid=0 | w=26
  6023. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two sibs have been reported (last curated november 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=26
  6024. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated august 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=26
  6025. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated november 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=26
  6026. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) | rel=r_associated | relid=0 | w=26
  6027. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (last curated october 2012)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=26
  6028. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (last curated october 2015)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=26
  6029. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  6030. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients with epileptic encephalopathy have been reported
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two unrelated patients with epileptic encephalopathy have been reported | rel=r_associated | relid=0 | w=26
  6031. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | rel=r_associated | relid=0 | w=26
  6032. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:type 3: craniosynostosis, early demise, sporadic
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type 3: craniosynostosis, early demise, sporadic | rel=r_associated | relid=0 | w=26
  6033. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | rel=r_associated | relid=0 | w=26
  6034. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:type ii is progressive and leads to shortened lifespan
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:type ii is progressive and leads to shortened lifespan | rel=r_associated | relid=0 | w=26
  6035. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:typically sporadic occurrence
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:typically sporadic occurrence | rel=r_associated | relid=0 | w=26
  6036. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype
    n1=en:two unrelated families have been reported (last curated february 2016) | 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=26
  6037. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:ultrasound detection in second trimester of pregnancy
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:ultrasound detection in second trimester of pregnancy | rel=r_associated | relid=0 | w=26
  6038. en:two unrelated families have been reported (last curated february 2016) -- 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:two unrelated families have been reported (last curated february 2016) | 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
  6039. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:uncommon and rare features seen in the most severely affected patients
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:uncommon and rare features seen in the most severely affected patients | rel=r_associated | relid=0 | w=26
  6040. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | rel=r_associated | relid=0 | w=26
  6041. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:usual age of onset in the 20s and 30s
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usual age of onset in the 20s and 30s | rel=r_associated | relid=0 | w=26
  6042. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:usually begins in feet and legs (peroneal distribution)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=26
  6043. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:usually death in utero or rarely in neonatal period
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually death in utero or rarely in neonatal period | rel=r_associated | relid=0 | w=26
  6044. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:usually fatal by age 5 years
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually fatal by age 5 years | rel=r_associated | relid=0 | w=26
  6045. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:usually fatal in first 2 decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually fatal in first 2 decades | rel=r_associated | relid=0 | w=26
  6046. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:usually favorable response to treatment
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:usually favorable response to treatment | rel=r_associated | relid=0 | w=26
  6047. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | rel=r_associated | relid=0 | w=26
  6048. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (8 to 62 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (8 to 62 years) | rel=r_associated | relid=0 | w=26
  6049. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (childhood to adult)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (childhood to adult) | rel=r_associated | relid=0 | w=26
  6050. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range 10 to 50 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range 10 to 50 years) | rel=r_associated | relid=0 | w=26
  6051. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range childhood to adulthood)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range childhood to adulthood) | rel=r_associated | relid=0 | w=26
  6052. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range teenage to adult years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset (range teenage to adult years) | rel=r_associated | relid=0 | w=26
  6053. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age at onset of symptoms, from second to fifth decade of life
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset of symptoms, from second to fifth decade of life | rel=r_associated | relid=0 | w=26
  6054. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age at onset, but most often in the first 2 decades
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age at onset, but most often in the first 2 decades | rel=r_associated | relid=0 | w=26
  6055. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> 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:two unrelated families have been reported (last curated february 2016) | 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=26
  6056. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age of onset (range 1 to 30 years)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset (range 1 to 30 years) | rel=r_associated | relid=0 | w=26
  6057. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable age of onset of renal manifestations
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable age of onset of renal manifestations | rel=r_associated | relid=0 | w=26
  6058. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable expression
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expression | rel=r_associated | relid=0 | w=26
  6059. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable expressivity, even within families
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable expressivity, even within families | rel=r_associated | relid=0 | w=26
  6060. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable neuroradiologic findings
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable neuroradiologic findings | rel=r_associated | relid=0 | w=26
  6061. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable presentation and evolution of symptoms
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable presentation and evolution of symptoms | rel=r_associated | relid=0 | w=26
  6062. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable response to acetazolamide and carbamazepine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable response to acetazolamide and carbamazepine | rel=r_associated | relid=0 | w=26
  6063. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variable severity, some patients have a protracted course with little neurologic involvement
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variable severity, some patients have a protracted course with little neurologic involvement | rel=r_associated | relid=0 | w=26
  6064. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:variation in slc24a5 has also been associated with variation in skin color (shep4)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | rel=r_associated | relid=0 | w=26
  6065. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | rel=r_associated | relid=0 | w=26
  6066. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:very variable phenotype, with some patients having many features and others only a few
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:very variable phenotype, with some patients having many features and others only a few | rel=r_associated | relid=0 | w=26
  6067. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:visual and hearing loss are slowly progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visual and hearing loss are slowly progressive | rel=r_associated | relid=0 | w=26
  6068. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:visual impairment is present at birth and is progressive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:visual impairment is present at birth and is progressive | rel=r_associated | relid=0 | w=26
  6069. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:x-linked recessive cytochrome b-negative cgd
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:x-linked recessive cytochrome b-negative cgd | rel=r_associated | relid=0 | w=26
  6070. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 26 / 0.605 -> en:young adult onset
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:young adult onset | rel=r_associated | relid=0 | w=26
  6071. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 25 / 0.581 -> en:two
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:two | rel=r_associated | relid=0 | w=25
  6072. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate
    n1=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> en:osteoglophonic, derived from greek meaning hollowed out
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20
  6074. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> en:retinitis pigmentosa
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20
  6075. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> létal
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=létal | rel=r_associated | relid=0 | w=20
  6076. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> létale
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=létale | rel=r_associated | relid=0 | w=20
  6077. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire d'apparition tardive
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20
  6078. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | rel=r_associated | relid=0 | w=20
  6079. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la périphérine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire liée à la périphérine | rel=r_associated | relid=0 | w=20
  6080. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la périphérine (pro219leu)
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire liée à la périphérine (pro219leu) | rel=r_associated | relid=0 | w=20
  6081. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la rhodopsine
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire liée à la rhodopsine | rel=r_associated | relid=0 | w=20
  6082. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée au sexe récessive 3
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire liée au sexe récessive 3 | rel=r_associated | relid=0 | w=20
  6083. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire sénile
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire sénile | rel=r_associated | relid=0 | w=20
  6084. en:two unrelated families have been reported (last curated february 2016) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire, surdité, retard mental, et hypogonadisme
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | rel=r_associated | relid=0 | w=20
≈ 6114 relations entrantes

  1. létal --- r_associated #0: 45 --> en:two unrelated families have been reported (last curated february 2016)
    n1=létal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=45
  2. en:four patients from 3 families have been reported (last curated march 2016) --- r_associated #0: 43 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=43
  3. en:late-adult onset has been reported --- r_associated #0: 43 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late-adult onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=43
  4. en:blisters are precipitated by minor skin trauma --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blisters are precipitated by minor skin trauma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  5. en:death in infancy in 2 patients --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy in 2 patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  6. en:death secondary to renal failure, cardiac or cerebrovascular disease --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  7. en:hepatic failure develops in first months of life --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hepatic failure develops in first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  8. en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  9. en:manifests in infancy (including neonatal lethal) or childhood --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  10. en:mean age at onset of dementia is 57 years --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of dementia is 57 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  11. en:mean age at onset of proximal muscle weakness, 31 years --- r_associated #0: 42 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=42
  12. en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise --- r_associated #0: 41 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=41
  13. en:increased risk of myeloproliferative disorders in those with somatic mutations --- r_associated #0: 41 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=41
  14. en:lethal --- r_associated #0: 41 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lethal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=41
  15. en:variable severity of clinical and radiologic manifestations --- r_associated #0: 41 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity of clinical and radiologic manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=41
  16. en:associated with increased frequency of autoimmune diseases --- r_associated #0: 40 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with increased frequency of autoimmune diseases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=40
  17. en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) --- r_associated #0: 40 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=40
  18. en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth --- r_associated #0: 40 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=40
  19. en:incidence 1 in 15,000-28,000 births --- r_associated #0: 40 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1 in 15,000-28,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=40
  20. en:lack of treatment results in early death --- r_associated #0: 40 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lack of treatment results in early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=40
  21. en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported --- r_associated #0: 40 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=40
  22. en:chronic course with exacerbations and remissions --- r_associated #0: 39 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chronic course with exacerbations and remissions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=39
  23. en:death usually in childhood --- r_associated #0: 39 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=39
  24. en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment --- r_associated #0: 39 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=39
  25. en:age at onset 14 to 44 years --- r_associated #0: 38 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset 14 to 44 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=38
  26. en:incidence - 1/16,000 live births --- r_associated #0: 38 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence - 1/16,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=38
  27. en:majority of cases are sporadic, often in tall, thin men --- r_associated #0: 38 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=38
  28. en:median onset of neurologic symptoms is 13 years (range 5 to 28) --- r_associated #0: 38 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=38
  29. en:three fetuses from 1 family have been reported (last curated august 2015) --- r_associated #0: 38 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=38
  30. en:(3) adult nonnephropathic (219750) --- r_associated #0: 37 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(3) adult nonnephropathic (219750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=37
  31. en:color vision defects may not be part of the phenotype --- r_associated #0: 37 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:color vision defects may not be part of the phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=37
  32. en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) --- r_associated #0: 37 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=37
  33. en:genetic heterogeneity (see 116800 for summary) --- r_associated #0: 37 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=37
  34. en:later onset may occur --- r_associated #0: 37 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=37
  35. rétinite pigmentaire d'apparition tardive --- r_associated #0: 37 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire d'apparition tardive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=37
  36. en:asymptomatic patients may show changes on sd-oct --- r_associated #0: 36 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:asymptomatic patients may show changes on sd-oct | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=36
  37. en:few familial (parent offspring) cases reported --- r_associated #0: 36 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:few familial (parent offspring) cases reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=36
  38. en:highly variable organ involvement and severity --- r_associated #0: 36 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable organ involvement and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=36
  39. en:incidence of 1 in 120,000 live births --- r_associated #0: 36 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 120,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=36
  40. en:liver symptoms improve with age and disappear after puberty --- r_associated #0: 36 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver symptoms improve with age and disappear after puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=36
  41. en:milder form with onset in childhood, absence seizures, and learning difficulties --- r_associated #0: 36 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=36
  42. en:retinitis pigmentosa --- r_associated #0: 36 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:retinitis pigmentosa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=36
  43. en:adrenal insufficiency usually develops later (first decade) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  44. en:adult onset (20 to 50 years) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (20 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  45. en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  46. en:associated with advanced paternal age --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with advanced paternal age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  47. en:autosomal recessive form (277720) has also been described --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive form (277720) has also been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  48. en:based on one jordanian family (last curated august 2015) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one jordanian family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  49. en:caused by inheritance of the mutation on the paternal allele (imprinting) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  50. en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  51. en:coloboma is associated with larger microdeletion (490kb) of 11q13 --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  52. en:death in infancy secondary to respiratory insufficiency/pneumonia --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  53. en:death usually in newborn period or infancy --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in newborn period or infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  54. 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: 35 --> en:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  55. en:estimated frequence 1/3000 to 1/5000 --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  56. en:estimated frequency 1/2000-1/4000 individuals --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  57. en:fatal before age 2 years --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  58. en:frequency and severity of symptoms do not worsen with age --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency and severity of symptoms do not worsen with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  59. en:genetic heterogeneity (see 609192) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 609192) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  60. en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  61. en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  62. en:high risk of recurrence after surgery --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high risk of recurrence after surgery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  63. en:homozygotes have more severe disease with earlier onset of thrombosis --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  64. en:hypothyroidism is less severe in individuals with high dietary iodine intake --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  65. en:incidence 8/1,000 newborns --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 8/1,000 newborns | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  66. en:incidence of 1 in 57,000 --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 57,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  67. en:increased male to female ratio (7.5:1) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased male to female ratio (7.5:1) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  68. en:increased paternal age --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased paternal age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  69. en:increased sensitivity to valproic acid toxicity --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased sensitivity to valproic acid toxicity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  70. en:infections may precipitate ketotic episodes --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infections may precipitate ketotic episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  71. en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  72. en:intracellular accumulation of material can occur in neuronal and nonneuronal cells --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  73. en:later onset can also occur (up to age 17 years) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset can also occur (up to age 17 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  74. en:life-threatening infections --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:life-threatening infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  75. en:live born infants die within few hours of birth --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:live born infants die within few hours of birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  76. en:liver disease may be the most predominant finding --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver disease may be the most predominant finding | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  77. en:long headache duration (greater than 12 hours) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:long headache duration (greater than 12 hours) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  78. en:majority are stillborn or die in early neonatal period --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority are stillborn or die in early neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  79. en:majority of cases (95%) are sporadic --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases (95%) are sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  80. en:majority of cases have been sporadic --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases have been sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  81. en:majority of children die between 6 months and 5 yrs --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of children die between 6 months and 5 yrs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  82. en:majority of patients are ambulatory --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of patients are ambulatory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  83. en:majority of patients are stillborn or die before 5 months of age --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  84. en:maternal imprinting --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:maternal imprinting | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  85. en:may not be clinically manifest until middle life --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may not be clinically manifest until middle life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  86. en:may occur in adults (also in pregnancy) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may occur in adults (also in pregnancy) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  87. en:may regress --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may regress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  88. en:may show good response to levodopa --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may show good response to levodopa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  89. en:mean age at onset 15.2 years --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 15.2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  90. en:mean age at onset 33 years (range 20-60) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 33 years (range 20-60) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  91. en:mean age at onset 57-60 years --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 57-60 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  92. en:median age at diagnosis, 59 years --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age at diagnosis, 59 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  93. en:median survival 5.7 years --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median survival 5.7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  94. en:one patient reported (last curated november 2012) --- r_associated #0: 35 --> 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
  95. en:onset in first decade after normal early development --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade after normal early development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  96. en:onset usually in childhood or adolescence --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood or adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  97. en:recurrent episodes of liver failure during intercurrent infections --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  98. en:retinal holes were present in an asymptomatic female carrier --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  99. en:two families with confirmed adra2b mutations have been reported (last curated june 2015) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  100. en:two sibs have been reported (last curated november 2015) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs have been reported (last curated november 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  101. en:two unrelated patients have been reported (last curated august 2015) --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  102. en:weakness during pregnancy in some affected females has been reported --- r_associated #0: 35 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:weakness during pregnancy in some affected females has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35
  103. en:50% of cases represent new mutations associated with advanced paternal age --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  104. en:affected individuals have a relatively mild ichthyosis phenotype --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  105. en:affected individuals may have more than 1 cardiac structural defect, or none at all --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  106. en:age of onset usually 1 week to 2 years --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset usually 1 week to 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  107. en:all cases sporadic (18 males, 7 females) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases sporadic (18 males, 7 females) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  108. en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  109. en:associated with hemodialysis --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with hemodialysis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  110. en:average age at diagnosis 17.8 years (range 2-35 years) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  111. en:average age at onset between 40 and 50 years --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset between 40 and 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  112. en:average onset of seizures 6 months (range 3-12) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average onset of seizures 6 months (range 3-12) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  113. en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  114. en:can also be caused by contiguous gene deletion on chromosome 22q11.2 --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  115. en:compound heterozygosity common --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:compound heterozygosity common | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  116. en:death secondary to respiratory infection or failure before age 2 years --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  117. en:disease shows slow progression --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease shows slow progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  118. en:distinct from pseudopili annulati (613241) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct from pseudopili annulati (613241) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  119. en:drug-induced dyskinesias occur in a subset of patients --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  120. en:earlier onset is associated with more rapid progression --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earlier onset is associated with more rapid progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  121. en:early death due to sepsis --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death due to sepsis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  122. en:elevated body temperatures to 42 degrees celsius --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:elevated body temperatures to 42 degrees celsius | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  123. en:excessive postsurgical blood loss --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:excessive postsurgical blood loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  124. en:hearing loss occurs in late childhood --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss occurs in late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  125. en:hearing loss occurs later if at all --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss occurs later if at all | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  126. en:hepatomegaly improves with age and disappears around puberty --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  127. en:heterozygous mutation carriers may have late-onset of mild symptoms --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  128. en:highly penetrant, but low morbidity --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly penetrant, but low morbidity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  129. en:highly variable frequency and duration of episodes --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable frequency and duration of episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  130. en:highly variable phenotype and severity --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  131. en:highly variable phenotype with respect to facial dysmorphism and neurologic features --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  132. en:incidence of 1 in 100,000 births --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 100,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  133. en:increased aneuploidy in offspring --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased aneuploidy in offspring | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  134. en:independent ambulation is maintained --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:independent ambulation is maintained | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  135. en:infantile form has onset within first 6 months of life --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile form has onset within first 6 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  136. en:inflammatory arthritis may develop in 30% of patients --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  137. en:insidious onset --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:insidious onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  138. en:interfamilial and intrafamilial clinical heterogeneity --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  139. en:joint symptoms begin in third or fourth decade --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:joint symptoms begin in third or fourth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  140. en:later onset has been reported --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  141. en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  142. en:lesions apparent at birth --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions apparent at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  143. en:less than 20% have onset at 18 years of age or less (dominant and recessive) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  144. en:major fluid shifts may occur in severe cases --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:major fluid shifts may occur in severe cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  145. en:marked heterogeneity --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked heterogeneity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  146. en:may be due to imprinting defect --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be due to imprinting defect | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  147. en:may be precipitated by minor illness (e.g., viral infection, fever) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  148. en:may be progressive --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  149. en:may be triggered by minor head trauma --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be triggered by minor head trauma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  150. en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  151. en:mean age at onset 35 years (range 20-60) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 35 years (range 20-60) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  152. en:mean age of onset 31 years (range 5-60) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 31 years (range 5-60) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  153. en:no consistent dysmorphic facial phenotype --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no consistent dysmorphic facial phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  154. en:one family and 2 unrelated patients have been reported (last curated december 2015) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  155. en:onset of overgrowth in the first year of life (in most cases) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  156. 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: 34 --> en:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  157. en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  158. en:two unrelated consanguineous families have been reported (last curated july 2015) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  159. en:two unrelated families have been reported (last curated june 2015) --- r_associated #0: 34 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34
  160. en:abnormal sensitivity to therapeutic radiation --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:abnormal sensitivity to therapeutic radiation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  161. en:adult onset (wide range of age) --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (wide range of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  162. en:adult onset has been reported --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  163. en:autosomal recessive inheritance with earlier onset has been reported in 3 patients --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  164. en:based on report of 2 individuals (last curated november 2013) --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  165. en:based on report of 2 sibs in 2008 --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 sibs in 2008 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  166. en:childhood onset --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  167. en:clinical and biochemical abnormalities disappear with age --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical and biochemical abnormalities disappear with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  168. en:clinical variability, both pure and complicated forms --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical variability, both pure and complicated forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  169. en:death in perinatal period --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in perinatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  170. en:diagnosis within the first 3 months of life --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis within the first 3 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  171. en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  172. en:early death in males --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  173. en:end-stage renal failure may occur --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:end-stage renal failure may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  174. en:extrapyramidal signs show a favorable response to levodopa --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  175. en:fishy body odor --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fishy body odor | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  176. en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  177. en:good response to steroid treatment --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to steroid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  178. en:gradual progression --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gradual progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  179. en:high frequencies affected before low frequencies --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequencies affected before low frequencies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  180. en:high recurrence rate --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high recurrence rate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  181. en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  182. en:hyperkeratosis often present at birth but may appear later --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperkeratosis often present at birth but may appear later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  183. en:incomplete penetrance --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  184. en:incomplete penetrance in carrier females --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance in carrier females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  185. en:increased recurrence risk with parental translocation --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased recurrence risk with parental translocation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  186. en:infantile onset --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  187. en:initial development may appear normal --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:initial development may appear normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  188. en:itch, pain, and body malodor often --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:itch, pain, and body malodor often | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  189. en:late adult onset (after age 55 years) --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late adult onset (after age 55 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  190. en:late-adult onset --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late-adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  191. en:later onset (late childhood to young adult) has been reported --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset (late childhood to young adult) has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  192. en:lethal in males --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lethal in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  193. en:limb malformations are variable --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limb malformations are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  194. en:lower limb involvement occurs before upper limb involvement --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lower limb involvement occurs before upper limb involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  195. en:majority of children die before age 2 --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of children die before age 2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  196. en:male to female ratio 4:1 --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male to female ratio 4:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  197. en:males tend to have earlier onset than females --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males tend to have earlier onset than females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  198. en:mean age at onset 22 years (range 7 to 50 years) --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  199. en:mean age of diagnosis 40 years --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of diagnosis 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  200. en:mean age of onset 35-40 years --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 35-40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  201. en:mean age of onset, 5 years --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset, 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  202. en:median age of diagnosis is 28 years --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age of diagnosis is 28 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  203. en:median age of onset of nail dystrophy - 7 years (range 1-6 years) --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  204. en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  205. en:quinidine therapy may be effective --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:quinidine therapy may be effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  206. en:relatively mild phenotype --- r_associated #0: 32 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relatively mild phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32
  207. en:age at onset 8 to 55 years (mean 40 years) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  208. en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  209. en:anemia is responsive to corticosteroid treatment --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia is responsive to corticosteroid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  210. en:approximately 40% of cases are inherited or new germline mutations --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  211. 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: 31 --> en:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  212. en:attacks more common in women --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks more common in women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  213. en:average disease duration of 7 years --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average disease duration of 7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  214. en:both autosomal dominant and autosomal recessive inheritance has been described --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  215. en:cardiac examination is usually unremarkable --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiac examination is usually unremarkable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  216. en:carrier females may have mild intellectual disability --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females may have mild intellectual disability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  217. en:carrier females show no phenotypic abnormalities, but may have learning difficulties --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  218. en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  219. en:death often occurs in childhood --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often occurs in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  220. en:discordant phenotype among monozygotic twins has been reported --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  221. en:early adult onset has been reported --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early adult onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  222. en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  223. en:estimated incidence of 1-2 in 10,000 --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated incidence of 1-2 in 10,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  224. en:exacerbated by stress --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exacerbated by stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  225. en:favorable response to ephedrine treatment --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to ephedrine treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  226. en:full recovery after attacks --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:full recovery after attacks | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  227. en:gastric suction pump, home model, portable or stationary, electric --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  228. en:genetic heterogeneity (see 605407) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 605407) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  229. en:genetic heterogeneity (see mcc1 deficiency 210200) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  230. en:highly variable frequency and severity of attacks --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable frequency and severity of attacks | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  231. en:icelandic families --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:icelandic families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  232. en:incidence 1-1.5/1,000 live births --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1-1.5/1,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  233. en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  234. en:infantile form accounts for 90% of cases --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile form accounts for 90% of cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  235. en:juvenile form has onset between 4 and 19 years --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile form has onset between 4 and 19 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  236. en:late infantile onset 6-24 months --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late infantile onset 6-24 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  237. en:later onset of neurologic features --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset of neurologic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  238. en:left sided involvement occurs more frequently --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:left sided involvement occurs more frequently | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  239. en:leg pain during childhood --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:leg pain during childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  240. en:lesions continue to grow until epiphyseal plate closure --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  241. en:levodopa-induced dyskinesias --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:levodopa-induced dyskinesias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  242. en:lower limb weakness is presenting feature --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lower limb weakness is presenting feature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  243. en:madelung deformity more frequent and more severe in females --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:madelung deformity more frequent and more severe in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  244. en:majority die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  245. en:majority of cases diagnosed at age 10-15 years --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases diagnosed at age 10-15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  246. en:majority of cases sporadic --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  247. en:majority of patients die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  248. en:male-to-female ratio, 1.8 to 1 --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male-to-female ratio, 1.8 to 1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  249. en:manifestations continue to appear until 5th decade --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:manifestations continue to appear until 5th decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  250. en:many adults with typical form remain ambulatory --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many adults with typical form remain ambulatory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  251. en:may be asymptomatic --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  252. en:may progress to other body regions after many years --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may progress to other body regions after many years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  253. en:mean age at onset 24 years (range 14 to 33 years) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  254. en:mean age at onset 32 years --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 32 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  255. en:mean age at onset 66.8 years (range 47-77) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  256. en:onset of lymphedema around puberty --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of lymphedema around puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  257. en:osteoglophonic, derived from greek meaning hollowed out --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  258. en:penetrance estimated to be 80% --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:penetrance estimated to be 80% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  259. en:pigmentation not always butterfly-shaped --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pigmentation not always butterfly-shaped | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  260. en:therapy is placement of implantable cardioverter defibrillator (icd) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  261. en:three unrelated patients have been reported (last curated december 2015) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  262. en:three unrelated patients have been reported (last curated july 2015) --- r_associated #0: 31 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31
  263. en:a milder form has also been reported --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a milder form has also been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  264. en:about 20% of female mutation carriers may show mild muscle weakness --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  265. en:age of onset ranges from 1 to 47 years --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset ranges from 1 to 47 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  266. en:all features are unilateral --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all features are unilateral | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  267. en:allelic disorder to benign hereditary chorea (118700), which is less severe --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  268. en:allelic disorder to potassium-aggravated myotonia (608390) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  269. en:allelic to metaphyseal dysplasia without hypotrichosis (250460) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  270. en:average onset 6-10 months (range 3-24) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average onset 6-10 months (range 3-24) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  271. en:based on report of 4 patients from 1 family (last curated july 2015) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  272. en:bleeding is usually delayed-onset after challenge --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bleeding is usually delayed-onset after challenge | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  273. en:boys are more often affected than girls (3:2) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:boys are more often affected than girls (3:2) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  274. en:classic severe form shows onset at 2 to 3 months of age --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  275. en:contractures other than plantar are less common and less severe --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contractures other than plantar are less common and less severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  276. en:death may occur in infancy --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death may occur in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  277. en:death usually in first year of life --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  278. en:early death (usually by 3 years of age) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death (usually by 3 years of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  279. en:early death may occur --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  280. en:episodes last from several hours to days --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes last from several hours to days | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  281. en:excessive skin picking of sores --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:excessive skin picking of sores | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  282. en:female carriers may be mildly affected --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may be mildly affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  283. en:foot deformities are present in infancy or childhood --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:foot deformities are present in infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  284. en:great variation in extent of hypertrophy in mutation-positive individuals --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  285. en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  286. en:heterozygous females may have situs inversus or other midline defects --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  287. en:heterozygous females more mildly affected than hemizygous males --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  288. en:highly variable clinical phenotype --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable clinical phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  289. en:highly variable phenotype, even within families --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype, even within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  290. en:highly variable phenotype, ranging from asymptomatic to severe --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  291. en:hyperthermia in early childhood --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperthermia in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  292. en:in general, men have more severe disease than women --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in general, men have more severe disease than women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  293. en:in severe attacks, hemiplegia or coma may last days to weeks --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  294. en:incidence 1 in 30,000 male births --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1 in 30,000 male births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  295. en:incidence of 1 in 5,000 to 1 in 10,000 --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  296. en:incomplete penetrance in some families --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance in some families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  297. en:increased risk of early death --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  298. en:increased susceptibility to multiple carcinomas --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased susceptibility to multiple carcinomas | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  299. en:infantile onset with hepatic involvement --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile onset with hepatic involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  300. en:infants are stillborn or die shortly after birth --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infants are stillborn or die shortly after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  301. en:infants may have acute life-threatening crises --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infants may have acute life-threatening crises | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  302. en:infants show normal size and appearance --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infants show normal size and appearance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  303. en:intrafamilial phenotypic variation may occur --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial phenotypic variation may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  304. en:juvenile onset 4 years to puberty --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile onset 4 years to puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  305. en:male predominance of 3:1 to 5:1 --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male predominance of 3:1 to 5:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  306. en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  307. en:may fade with age --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may fade with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  308. en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  309. en:mean age at termination 3 to 4 years --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at termination 3 to 4 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  310. en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  311. en:medullary thyroid cancer is aggressive and can occur in childhood --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  312. en:nine patients have been reported (last curated july 2015) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nine patients have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  313. en:two unrelated families have been reported (last curated october 2015) --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  314. létale --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=létale | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  315. léthal --- r_associated #0: 30 --> en:two unrelated families have been reported (last curated february 2016)
    n1=léthal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=30
  316. en:allelic disorder to early-onset sarcoidosis (609464) --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  317. en:approximately 50% of patients have situs inversus --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 50% of patients have situs inversus | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  318. en:associated with smoking --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with smoking | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  319. en:autosomal recessive disorder tends to be more severe --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive disorder tends to be more severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  320. en:congenital onset --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  321. en:cutaneous symptoms induced by cold exposure or cooling --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  322. en:death in majority of infants soon after birth --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in majority of infants soon after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  323. en:deposits may recur in graft after corneal transplantation --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deposits may recur in graft after corneal transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  324. en:diurnal fluctuation --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diurnal fluctuation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  325. en:dwarfism not detectable at birth --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dwarfism not detectable at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  326. en:early onset (9-48 years, but reported up to 68 years) --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  327. en:eye involvement begins at birth, neurologic involvement begins later --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  328. en:facial dysmorphic features are mild --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:facial dysmorphic features are mild | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  329. en:fractures and dental caries and premature secondary tooth loss occur in adulthood --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  330. en:frequency of infections decreases after 3 years of age --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency of infections decreases after 3 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  331. en:high frequency hearing loss progresses to include all frequencies --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  332. en:high frequency of levodopa-induced dyskinesias --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency of levodopa-induced dyskinesias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  333. en:highly variable expression --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable expression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  334. en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  335. en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  336. en:hypersensitivity to ionizing radiation --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypersensitivity to ionizing radiation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  337. en:incidence of 1 in 100,000 to 125,000 at birth --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  338. en:incomplete penetrance (50%) --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance (50%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  339. en:intrafamilial variability in number of missing teeth --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variability in number of missing teeth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  340. en:joint laxity decreases with age --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:joint laxity decreases with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  341. en:juvenile rigid early-onset form more often paternally inherited --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  342. en:late-onset, slowly progressing form of retinitis pigmentosa --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  343. en:length of attack, 3 to 7 days --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:length of attack, 3 to 7 days | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  344. en:lifelong occurrence --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lifelong occurrence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  345. en:marked intrafamilial variability of clinical features --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked intrafamilial variability of clinical features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  346. en:mean age at onset 28 years --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 28 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  347. en:mean age at onset 46.5 years (range 19-64) --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  348. en:mean age at onset of bone fractures, 24 years --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of bone fractures, 24 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  349. en:mean age at onset of migraines is 42 years --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of migraines is 42 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  350. en:mean age of onset 16 to 19 years --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 16 to 19 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  351. en:mean age of onset about 62 years (45-79 years) --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset about 62 years (45-79 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  352. en:midline defects --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:midline defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  353. en:no extraocular findings --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no extraocular findings | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  354. en:onset of night blindness varies among patients from early childhood to mid thirties --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  355. en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  356. en:seizures remit spontaneously by age 5 years --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures remit spontaneously by age 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  357. en:treatment with sulfonylurea can be effective --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with sulfonylurea can be effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  358. rétinite pigmentaire liée au sexe récessive 3 --- r_associated #0: 29 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=29
  359. en:absence seizures show onset between 3.5 and 4 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  360. en:adult onset --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  361. en:age at onset from 3 to 51 years (mean 19.2 years) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  362. en:age of onset between 5 and 10 years of age --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset between 5 and 10 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  363. en:age of onset of distal lower limb weakness 8-16 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  364. en:age of onset/diagnosis 12-35 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset/diagnosis 12-35 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  365. en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  366. en:approximately 70-80% of cases are de novo and sporadic --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  367. en:based on one large dutch family (last curated august 2015) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one large dutch family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  368. en:based on one sib pair each in their seventies --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one sib pair each in their seventies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  369. en:cardiomyopathy is not a feature --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiomyopathy is not a feature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  370. en:childhood or adolescent onset (usually less than 25 years) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  371. 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: 28 --> en:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  372. en:death before age 40 --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death before age 40 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  373. en:earlier onset is associated with a more severe disorder --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earlier onset is associated with a more severe disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  374. en:episodes occur 30 minutes to 3 hours after exposure to cold --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  375. en:facial palsy often transient in infancy --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:facial palsy often transient in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  376. en:favorable response to 3,4-diaminopyridine --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to 3,4-diaminopyridine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  377. en:four unrelated families have been reported (last curated august 2015) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  378. en:hair regrowth may occur later in life --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hair regrowth may occur later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  379. en:hip joint replacement often necessary --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hip joint replacement often necessary | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  380. en:in the absence of hydrops, death occurs within 3 months --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  381. en:incidence 1 in 8,000 live births --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1 in 8,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  382. en:incidence 1/100,000 - 1/200,000 live births --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  383. en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  384. en:incidence of 1 in 1.5 million births --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 1.5 million births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  385. en:incidence of 1 in 10,000 to 1 in 20,000 --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  386. en:incidence of 1 in 39,000 --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 39,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  387. en:lethal in utero or perinatal lethal --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lethal in utero or perinatal lethal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  388. en:liveborn often die within first week of life --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liveborn often die within first week of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  389. en:liver size returns to normal after 3 months to 3 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver size returns to normal after 3 months to 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  390. en:major cause of death is heart failure --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:major cause of death is heart failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  391. en:males may be more affected than females --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males may be more affected than females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  392. en:marked intrafamilial and interfamilial variability --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked intrafamilial and interfamilial variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  393. en:mean age at onset 10.6 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 10.6 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  394. en:mean age at onset of cerebellar ataxia is 52.8 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  395. en:mean age of onset 20.6 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 20.6 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  396. en:mean age of onset 22 years (range 5-54) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 22 years (range 5-54) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  397. en:mean age of onset in third decade --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset in third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  398. en:median age at onset 23 years --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age at onset 23 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  399. en:median age of onset of pigmentation - 8 years (range 1-15 years) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  400. en:mild asymmetric regional disease (e.g. 180380.0029) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  401. en:one patient has been reported (last curated august 2015) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  402. en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  403. en:symptoms present from infancy or early childhood --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms present from infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  404. en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  405. rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  406. rétinite pigmentaire liée à la rhodopsine --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire liée à la rhodopsine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  407. rétinite pigmentaire, surdité, retard mental, et hypogonadisme --- r_associated #0: 28 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28
  408. en:age at diagnosis 24 +/- 18 years for dominant disease --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  409. en:age of onset varies ranging from 3 weeks to 22 years --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  410. en:both mutations occurred de novo --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both mutations occurred de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  411. en:child often can sit unsupported but never ambulates --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:child often can sit unsupported but never ambulates | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  412. en:clinical presentation varies from asymptomatic to fulminant course --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  413. en:deafness tends to occur before other neurologic signs, except in patients with very early onset --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  414. en:death due to rapidly progressive pulmonary fibrosis in infancy --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  415. en:diarrhea worsens in parallel with increases in severity of skin disease --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  416. en:diurnal fluctuation of neurologic symptoms --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diurnal fluctuation of neurologic symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  417. en:early death occurs in affected infants (days to months after disease onset) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  418. en:episode frequency is monthly to yearly, and decreases with age --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  419. en:familial occurrence is rare --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial occurrence is rare | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  420. en:female carriers may be affected --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may be affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  421. en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  422. en:females often show milder phenotype with later onset of cardiac symptoms --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  423. en:first fracture in early childhood --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:first fracture in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  424. en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  425. en:four unrelated families have been reported (last curated september 2015) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  426. en:fracture frequency decreased post puberty --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fracture frequency decreased post puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  427. en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  428. en:genetic heterogeneity (see 161800) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 161800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  429. en:gonadal and somatic mosaicism reported in parent --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gonadal and somatic mosaicism reported in parent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  430. en:heterozygotes are not affected --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes are not affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  431. en:highly variable severity and features --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable severity and features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  432. en:incidence of 1 in 3,500 boys --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 3,500 boys | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  433. en:incomplete penetrance of optic atrophy --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance of optic atrophy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  434. en:inflammatory bowel disease may develop in childhood or adolescence --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  435. en:inheritance pattern is unclear --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:inheritance pattern is unclear | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  436. en:initial hearing loss is mild progressing to severe or profound by the seventh decade --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  437. en:intermittent exacerbations --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intermittent exacerbations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  438. en:internal organ rupture may occur --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:internal organ rupture may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  439. en:isolated finding --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:isolated finding | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  440. en:lesions provoked by friction, sun exposure, heat, and injury --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  441. en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  442. en:loss of tumor suppressor gene --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss of tumor suppressor gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  443. en:majority are isolated cases --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority are isolated cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  444. en:males are most severely affected, but females can also be affected --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males are most severely affected, but females can also be affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  445. en:many patients become wheelchair-bound --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  446. en:many patients lose independent mobility after 25 years --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients lose independent mobility after 25 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  447. en:marked clinical variability within families --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked clinical variability within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  448. en:maternal anticipation bias --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:maternal anticipation bias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  449. en:may be lethal in the neonatal period --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be lethal in the neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  450. en:may have seasonal variance in severity --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may have seasonal variance in severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  451. en:mean age of onset 30 years (range 25-42) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 30 years (range 25-42) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  452. en:mean age of onset 50 to 52 years --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 50 to 52 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  453. en:mean survival 5 months --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean survival 5 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  454. en:medial onset of end stage renal disease 13 years --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:medial onset of end stage renal disease 13 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  455. en:median survival is > 50 years --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median survival is > 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  456. en:mesomelia becomes more evident with age --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mesomelia becomes more evident with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  457. en:most patients become wheelchair-bound in the second or third decades --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  458. en:onset in first decade (as early as infancy in some) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade (as early as infancy in some) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  459. en:onset of symptoms in early childhood in most patients --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in early childhood in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  460. en:onset of visual dysfunction in early childhood --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of visual dysfunction in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  461. en:precipitation by pregnancy --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitation by pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  462. en:three unrelated families have been reported (last curated october 2015) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  463. rétinite pigmentaire liée à la périphérine (pro219leu) --- r_associated #0: 27 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27
  464. en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  465. en:autoimmune features are variable --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autoimmune features are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  466. en:death from pneumonia --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death from pneumonia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  467. en:death in fourth to fifth decade --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in fourth to fifth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  468. en:death in third or fourth decades, usually due to respiratory infection --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  469. en:family a had a severe multisystem disorder resulting in death before age 2 years --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  470. en:female carriers may show intermittent hematuria --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may show intermittent hematuria | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  471. en:fractures can occur in utero, during labor and delivery, or in newborn period --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  472. en:fractures decrease after puberty but increase after menopause --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fractures decrease after puberty but increase after menopause | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  473. en:hands clenched at birth but loosen in infancy --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hands clenched at birth but loosen in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  474. en:heterozygous females may exhibit variable degrees of enzyme deficiency --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  475. en:high frequency of absence seizures (several per day) --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency of absence seizures (several per day) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  476. en:highly variable phenotype, some adults may be asymptomatic --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  477. en:immunologic defects are variable --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:immunologic defects are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  478. en:improvement with age --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:improvement with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  479. en:incidence of 1 in 50,000 to 1 in 100,000 --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  480. en:incidence ranges from 1 in 40,000 to 1 in 350,000 births --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  481. en:incomplete penetrance with 45 to 51 repeats --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  482. en:infantile, late-infantile, juvenile, and adult onset have been reported --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  483. en:intermediate expression in females --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intermediate expression in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  484. 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: 26 --> en:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  485. en:ketogenic diet may be effective --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ketogenic diet may be effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  486. en:late-adult onset (fifth to sixth decade) --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late-adult onset (fifth to sixth decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  487. en:left side involvement more frequent than right side involvement --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:left side involvement more frequent than right side involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  488. en:lifetime risk of breast cancer in mutation carriers is 60 to 85% --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  489. en:majority of cases are male --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases are male | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  490. en:majority of patients have normal intelligence --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of patients have normal intelligence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  491. en:male to female ratio is greater than 3:1 --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male to female ratio is greater than 3:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  492. en:males more affected than females (2 to 2.5:1) --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males more affected than females (2 to 2.5:1) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  493. en:many cases are asymptomatic --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many cases are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  494. en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  495. en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  496. en:mean age at diagnosis 8.8 years (range 0.2-23 years) --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  497. en:metabolic encephalomyopathic crises often triggered by infection --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  498. en:one lebanese family has been reported --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one lebanese family has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  499. en:patients may die in infancy or childhood due to respiratory failure --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  500. en:skewed x-inactivation, with complete skewing in some individuals --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  501. en:some patients have onset in second decade of life --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have onset in second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  502. en:some patients may show normal early development before seizure onset --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may show normal early development before seizure onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  503. en:surviving males are postzygotic mosaic for ebp mutations --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  504. en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  505. en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  506. rétinite pigmentaire liée à la périphérine --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire liée à la périphérine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  507. rétinite pigmentaire sénile --- r_associated #0: 26 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire sénile | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26
  508. rétinite pigmentaire --- r_associated #0: 24 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=24
  509. rétinite pigmentaire et retard mental --- r_associated #0: 24 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire et retard mental | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=24
  510. rétinopathie pigmentaire --- r_associated #0: 21 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinopathie pigmentaire | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=21
  511. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  512. en:'second wind' phenomenon --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:'second wind' phenomenon | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  513. en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  514. en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  515. en:'variant' form of x-linked cgd retains residual cytochrome b(-245) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  516. en:(1) classic severe (onset of symptoms 4 to 7 days of age) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  517. en:(1) infantile nephropathic (219800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(1) infantile nephropathic (219800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  518. en:(2) intermittent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(2) intermittent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  519. en:(2) juvenile or adolescent nephropathic (219900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(2) juvenile or adolescent nephropathic (219900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  520. en:(3) intermediate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(3) intermediate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  521. en:(4) thiamine-responsive form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(4) thiamine-responsive form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  522. en:(5) dihydrolipoyl dehydrogenase (e3)-deficient --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  523. en:1 in 17,000 in china --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:1 in 17,000 in china | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  524. en:1 in 19,000 in japan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:1 in 19,000 in japan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  525. en:1 in 50,000 in korea --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:1 in 50,000 in korea | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  526. en:1 patient reported (last curated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:1 patient reported (last curated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  527. en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  528. en:10% due to paternal deletion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:10% due to paternal deletion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  529. en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  530. en:12% due to epimutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:12% due to epimutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  531. en:13% of cases secondary to familial translocation (often maternally derived) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:13% of cases secondary to familial translocation (often maternally derived) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  532. en:14 patients in 8 recessive kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:14 patients in 8 recessive kindreds reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  533. en:14% of patients survive with polyhydramnios --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:14% of patients survive with polyhydramnios | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  534. en:15 patients from 5 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:15 patients from 5 kindreds reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  535. en:15% cases are familial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:15% cases are familial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  536. en:2 patients described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:2 patients described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  537. en:2% due to paternal uniparental disomy of 15q11.2-q13 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:2% due to paternal uniparental disomy of 15q11.2-q13 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  538. en:2-3% due to imprinting defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:2-3% due to imprinting defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  539. en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  540. en:20% die before age one (usually secondary to renal or laryngeal defects) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:20% die before age one (usually secondary to renal or laryngeal defects) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  541. en:20-40% patients are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:20-40% patients are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  542. en:21 patients from 17 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:21 patients from 17 kindreds reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  543. en:21% of hereditary wilms tumor are bilateral --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:21% of hereditary wilms tumor are bilateral | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  544. en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  545. en:23 patients from 2 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:23 patients from 2 kindreds reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  546. en:25% due to mutations in ube3a (601623) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:25% due to mutations in ube3a (601623) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  547. en:2:1 female preponderance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:2:1 female preponderance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  548. en:3 reported cases, 1 pedigree of affected sibs, neither parent affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  549. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  550. en:35% of patients have facial dysmorphism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:35% of patients have facial dysmorphism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  551. en:40 patients in 16 dominant kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:40 patients in 16 dominant kindreds reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  552. en:40% patients have associated abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:40% patients have associated abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  553. en:46,xx carriers are unaffected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:46,xx carriers are unaffected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  554. en:46,xy carriers are unaffected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:46,xy carriers are unaffected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  555. en:5-10% of all wilms tumor are bilateral --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:5-10% of all wilms tumor are bilateral | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  556. en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  557. en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  558. en:50% of cases are de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:50% of cases are de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  559. en:50% of females have learning disability or mild mental retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:50% of females have learning disability or mild mental retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  560. en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  561. en:7 unrelated patients have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:7 unrelated patients have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  562. en:70% due to de novo maternal deletion of 15q11.2-q13 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:70% due to de novo maternal deletion of 15q11.2-q13 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  563. en:75% of affected individuals are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:75% of affected individuals are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  564. en:78% due to chromosome 14 maternal uniparental disomy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:78% due to chromosome 14 maternal uniparental disomy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  565. en:80% cases new mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:80% cases new mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  566. en:85-90% with manifestations in first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:85-90% with manifestations in first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  567. en:87% patients are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:87% patients are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  568. en:94% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:94% develop hypertension at 18 years of age or less | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  569. en:95% of cases are sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:95% of cases are sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  570. en:98% of finnish cases due to one mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:98% of finnish cases due to one mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  571. en:99+% of the mutations are fgfr3, g380r (134934.0001) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:99+% of the mutations are fgfr3, g380r (134934.0001) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  572. en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  573. en:a minority of patients have onset after age 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a minority of patients have onset after age 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  574. en:a mutation in the cxorf5 gene has been reported in 1 affected family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a mutation in the cxorf5 gene has been reported in 1 affected family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  575. en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  576. en:a nonspecific marker of somatic mosaicism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a nonspecific marker of somatic mosaicism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  577. en:a pair of monozygotic twins have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a pair of monozygotic twins have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  578. en:a second family had mild intellectual disability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a second family had mild intellectual disability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  579. en:a second patient died at age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a second patient died at age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  580. en:a severe infantile variant has been rarely reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a severe infantile variant has been rarely reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  581. en:a subgroup of patients with sponastrime dysplasia have severe mental retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  582. en:a subset of patients are responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a subset of patients are responsive to vitamin b12 therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  583. en:a subset of patients have a 'visual variant' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a subset of patients have a 'visual variant' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  584. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  585. en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  586. en:a subset of patients have heterozygous mutations, which may predispose to disease development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a subset of patients have heterozygous mutations, which may predispose to disease development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  587. en:a subset of patients improve with thiamine --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a subset of patients improve with thiamine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  588. en:a subset of patients may have congenital abnormalities of the ocular anterior segment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  589. en:a wnt3 mutation has been identified in 1 affected family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:a wnt3 mutation has been identified in 1 affected family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  590. en:abnormal morphogenesis of first and second branchial arches --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:abnormal morphogenesis of first and second branchial arches | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  591. en:abnormal transferrin pattern tends to improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:abnormal transferrin pattern tends to improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  592. en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  593. en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  594. en:about 10% of patients have a severe early onset in the first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 10% of patients have a severe early onset in the first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  595. en:about 15% of female carriers develop renal insufficiency in the second or third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 15% of female carriers develop renal insufficiency in the second or third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  596. en:about 25% of cases due to new mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 25% of cases due to new mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  597. en:about 5% of patients have a history of febrile seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 5% of patients have a history of febrile seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  598. en:about 50% of mutation carriers are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 50% of mutation carriers are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  599. en:about 50% of patients become wheelchair-bound at an average age of 37 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 50% of patients become wheelchair-bound at an average age of 37 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  600. en:about 50% of patients have intellectual disability and/or hydrocephalus --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 50% of patients have intellectual disability and/or hydrocephalus | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  601. en:about 8% of female mutation carriers develop dilated cardiomyopathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about 8% of female mutation carriers develop dilated cardiomyopathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  602. en:about a dozen patients have been reported (as of march 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about a dozen patients have been reported (as of march 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  603. en:about half of individuals are asymptomatic and identified by newborn screening programs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about half of individuals are asymptomatic and identified by newborn screening programs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  604. en:about half of patients become wheelchair bound after long duration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about half of patients become wheelchair bound after long duration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  605. en:about half of patients report vestibular symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about half of patients report vestibular symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  606. en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  607. en:absence of both inner and outer dynein arms of cilia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:absence of both inner and outer dynein arms of cilia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  608. en:absence of premature birth, low birthweight, and exposure to oxygen --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:absence of premature birth, low birthweight, and exposure to oxygen | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  609. en:absence seizures usually remit by puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:absence seizures usually remit by puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  610. en:acanthosis nigricans fades during adolescence and reappears in pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  611. en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  612. en:accounts for 1-2% of lymphomas in adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accounts for 1-2% of lymphomas in adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  613. en:accounts for 30-50% of lymphomas in children --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accounts for 30-50% of lymphomas in children | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  614. en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  615. en:accounts for 5-15% of childhood epilepsies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accounts for 5-15% of childhood epilepsies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  616. en:accounts for 70% of all usher syndrome patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accounts for 70% of all usher syndrome patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  617. en:accounts for <2% of patients with alzheimer's disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accounts for <2% of patients with alzheimer's disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  618. en:accounts for approximately 5% of the epilepsies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:accounts for approximately 5% of the epilepsies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  619. en:acetazolamide is often effective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acetazolamide is often effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  620. en:acetazolamide may benefit attacks of vertigo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acetazolamide may benefit attacks of vertigo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  621. en:acquired autoimmune disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acquired autoimmune disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  622. en:acquired disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acquired disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  623. en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  624. en:acquired protein c deficiency seen in liver disease, dic, and following surgery --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  625. en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  626. en:acquired sporadic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acquired sporadic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  627. en:acral form of skin peeling limited to hands and feet (609796) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acral form of skin peeling limited to hands and feet (609796) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  628. en:acral hemorrhagic variant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acral hemorrhagic variant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  629. en:acute attacks lasting 24-48 hours --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acute attacks lasting 24-48 hours | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  630. en:acute attacks rarely occur before puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acute attacks rarely occur before puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  631. en:acute encephalopathic episodes may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acute encephalopathic episodes may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  632. en:acute episodes decrease with age and disappear --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acute episodes decrease with age and disappear | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  633. en:acute neurologic deterioration after viral illness has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:acute neurologic deterioration after viral illness has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  634. en:adams-stokes syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adams-stokes syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  635. en:additional developmental abnormalities may be seen in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:additional developmental abnormalities may be seen in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  636. en:additional features are variably present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:additional features are variably present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  637. en:adolescent or adult onset associated with neuropsychiatric symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adolescent or adult onset associated with neuropsychiatric symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  638. en:adult form is asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult form is asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  639. en:adult form onset has after 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult form onset has after 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  640. en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  641. en:adult onset (18 to 60 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (18 to 60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  642. en:adult onset (20 to 40 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (20 to 40 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  643. en:adult onset (25-45 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (25-45 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  644. en:adult onset (27 to 48 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (27 to 48 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  645. en:adult onset (37 to 57 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (37 to 57 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  646. en:adult onset (40 to 60 years old) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (40 to 60 years old) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  647. en:adult onset (45 to 76 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (45 to 76 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  648. en:adult onset (after age 35 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (after age 35 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  649. en:adult onset (before 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (before 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  650. en:adult onset (mean 27 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (mean 27 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  651. en:adult onset (mean 30 years, range 10-65 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (mean 30 years, range 10-65 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  652. en:adult onset (mean 30 years, range 5-60 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (mean 30 years, range 5-60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  653. en:adult onset (mean 60 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (mean 60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  654. en:adult onset (mean age 37 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (mean age 37 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  655. en:adult onset (mean of 30 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (mean of 30 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  656. en:adult onset (mid-forties) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (mid-forties) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  657. en:adult onset (range 12 to 59 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 12 to 59 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  658. en:adult onset (range 14 to 70 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 14 to 70 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  659. en:adult onset (range 15 to 53 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 15 to 53 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  660. en:adult onset (range 19 to 48 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 19 to 48 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  661. en:adult onset (range 28 to 55 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 28 to 55 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  662. en:adult onset (range 30 to 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 30 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  663. en:adult onset (range 34 to 66 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 34 to 66 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  664. en:adult onset (range 40 to 60 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 40 to 60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  665. en:adult onset (range 45 to 70 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (range 45 to 70 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  666. en:adult onset (second to sixth decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (second to sixth decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  667. en:adult onset (sixth decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (sixth decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  668. en:adult onset (third decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (third decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  669. en:adult onset (thirties to forties) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset (thirties to forties) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  670. en:adult onset - 100-1,000 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset - 100-1,000 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  671. en:adult onset after puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset after puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  672. en:adult onset form usually presents with psychiatric manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset form usually presents with psychiatric manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  673. en:adult onset from second to seventh decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset from second to seventh decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  674. en:adult onset has been rarely reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset has been rarely reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  675. en:adult onset has been reported (age 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset has been reported (age 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  676. en:adult onset may also occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset may also occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  677. en:adult onset may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  678. en:adult onset of gait abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset of gait abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  679. en:adult onset of muscle symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset of muscle symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  680. en:adult onset of neurologic symptoms (range 30 to 46 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset of neurologic symptoms (range 30 to 46 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  681. en:adult onset of neurologic symptoms has been reported in 1 family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset of neurologic symptoms has been reported in 1 family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  682. en:adult onset of symptoms has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset of symptoms has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  683. en:adult onset rarely reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset rarely reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  684. en:adult onset, usually 30's to 40's, but up to early 60's --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult onset, usually 30's to 40's, but up to early 60's | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  685. en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  686. en:adult-onset (range early twenties to forties) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult-onset (range early twenties to forties) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  687. en:adult-onset in third to fourth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult-onset in third to fourth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  688. en:adult-onset is referred to as small fiber neuropathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adult-onset is referred to as small fiber neuropathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  689. en:adults may be asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adults may be asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  690. en:adults may lose ability to walk --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:adults may lose ability to walk | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  691. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  692. en:affected females are infertile --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected females are infertile | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  693. en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  694. en:affected females have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected females have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  695. en:affected females may have increased spontaneous abortions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected females may have increased spontaneous abortions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  696. en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  697. en:affected fetuses frequently undergo spontaneous abortion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected fetuses frequently undergo spontaneous abortion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  698. en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  699. en:affected individuals are highly prone to burn-related injuries --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals are highly prone to burn-related injuries | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  700. en:affected individuals are negative for dermatographism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals are negative for dermatographism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  701. en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  702. en:affected individuals die soon after birth due to respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals die soon after birth due to respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  703. en:affected individuals have amnesia for events --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals have amnesia for events | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  704. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  705. en:affected individuals may have biallelic or heterozygous mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals may have biallelic or heterozygous mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  706. en:affected individuals may have learning or behavioral problems during the period when seizures occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals may have learning or behavioral problems during the period when seizures occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  707. en:affected individuals remain ambulatory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals remain ambulatory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  708. en:affected individuals remain ambulatory in old age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected individuals remain ambulatory in old age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  709. en:affected infants appear normal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected infants appear normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  710. en:affected infants appear normal at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected infants appear normal at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  711. en:affected infants die in neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected infants die in neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  712. en:affected infants often die in utero or in the postnatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected infants often die in utero or in the postnatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  713. en:affected males are all result of new mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males are all result of new mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  714. en:affected males are infertile, whereas affected females have recurrent pregnancy loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  715. en:affected males are somatic mosaic for mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males are somatic mosaic for mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  716. en:affected males have normal pubertal development and are fertile --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males have normal pubertal development and are fertile | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  717. en:affected males have onset of poor vision before the age of 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males have onset of poor vision before the age of 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  718. en:affected males have serotonin-related disorders such as migraine headaches and diabetes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  719. en:affected males show onset of hematuria in first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males show onset of hematuria in first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  720. en:affected males who survive are secondary to new mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected males who survive are secondary to new mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  721. en:affected patients have various combinations of the main clinical features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected patients have various combinations of the main clinical features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  722. en:affected, mild - 50-150 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affected, mild - 50-150 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  723. en:affects 1 in 250,000 to 1 million people worldwide --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affects 1 in 250,000 to 1 million people worldwide | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  724. en:affects 1 to 3% of the population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affects 1 to 3% of the population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  725. en:affects between 1 in 200 to 1 in 400 individuals of northern european descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  726. en:affects up to 10% of the population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affects up to 10% of the population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  727. en:affects up to 10% of women in their reproductive years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:affects up to 10% of women in their reproductive years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  728. en:age at death:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at death:time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  729. en:age at diagnosis 2-4 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at diagnosis 2-4 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  730. en:age at diagnosis 26 +/- 14 years for recessive disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at diagnosis 26 +/- 14 years for recessive disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  731. en:age at diagnosis 28 +/- 18 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at diagnosis 28 +/- 18 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  732. en:age at diagnosis 36 +/- 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at diagnosis 36 +/- 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  733. en:age at diagnosis 9 +/- 6 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at diagnosis 9 +/- 6 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  734. en:age at diagnosis of cataract may range up to 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at diagnosis of cataract may range up to 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  735. en:age at first pregnancy:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at first pregnancy:time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  736. en:age at menarche:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at menarche:time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  737. en:age at menopause:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at menopause:time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  738. en:age at onset 15 to 25 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset 15 to 25 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  739. en:age at onset 15 to 33 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset 15 to 33 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  740. en:age at onset 3 to 23 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset 3 to 23 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  741. en:age at onset can range from infancy to childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset can range from infancy to childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  742. en:age at onset in females ranges from childhood to the fourth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset in females ranges from childhood to the fourth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  743. en:age at onset in males ranges from 3 to 7 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset in males ranges from 3 to 7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  744. en:age at onset most often in childhood (first decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset most often in childhood (first decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  745. en:age at onset ranges from 16 years to 65 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset ranges from 16 years to 65 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  746. en:age at onset ranges from 50 to 70 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset ranges from 50 to 70 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  747. en:age at onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset ranges from childhood to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  748. en:age at onset ranges from early childhood to after age 50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset ranges from early childhood to after age 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  749. en:age at onset ranges from first to sixth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset ranges from first to sixth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  750. en:age at onset ranges from neonatal to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age at onset ranges from neonatal to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  751. en:age of onset - birth to 15 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset - birth to 15 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  752. en:age of onset 1 to 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 1 to 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  753. en:age of onset 17 to 68 years (mean 39) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 17 to 68 years (mean 39) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  754. en:age of onset 2-8 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 2-8 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  755. en:age of onset 20-65 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 20-65 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  756. en:age of onset 23-59 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 23-59 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  757. en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  758. en:age of onset 28 to 70 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 28 to 70 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  759. en:age of onset 30 to 60 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 30 to 60 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  760. en:age of onset 36 to 55 years (mean 47) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 36 to 55 years (mean 47) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  761. en:age of onset 43-64 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 43-64 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  762. en:age of onset 5 to 19 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 5 to 19 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  763. en:age of onset 5 to 22 years (mean 6.9) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 5 to 22 years (mean 6.9) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  764. en:age of onset 5 to 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 5 to 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  765. en:age of onset 6-12 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset 6-12 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  766. en:age of onset between 20 to 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset between 20 to 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  767. en:age of onset between 6 and 45 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset between 6 and 45 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  768. en:age of onset between 6 to 10 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset between 6 to 10 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  769. en:age of onset from 10 to 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset from 10 to 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  770. en:age of onset from 18 to 45 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset from 18 to 45 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  771. en:age of onset from third to sixth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset from third to sixth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  772. en:age of onset of upper limb involvement 10-43 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset of upper limb involvement 10-43 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  773. en:age of onset ranges from infancy to young adulthood (6 months-19 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  774. en:age of onset ranges from neonate to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset ranges from neonate to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  775. en:age of onset third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  776. en:age of onset varies (7 to 28 years of age) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset varies (7 to 28 years of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  777. en:age of onset varies between 18 years and 53 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset varies between 18 years and 53 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  778. en:age of onset varies from 5-32 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset varies from 5-32 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  779. en:age of onset within the first years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset within the first years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  780. en:age of onset, 6-20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age of onset, 6-20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  781. en:age on onset - adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age on onset - adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  782. en:age-dependent penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age-dependent penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  783. en:age-related clinical course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age-related clinical course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  784. en:age:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age:time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  785. en:age:time:pt:^egg donor:qn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age:time:pt:^egg donor:qn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  786. en:age:time:pt:^patient:qn:calculated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age:time:pt:^patient:qn:calculated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  787. en:age:time:pt:^patient:qn:estimated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age:time:pt:^patient:qn:estimated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  788. en:age:time:pt:^patient:qn:reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:age:time:pt:^patient:qn:reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  789. en:aggravated by physical activity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:aggravated by physical activity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  790. en:aggressive malignancies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:aggressive malignancies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  791. en:alcohol may alleviate symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:alcohol may alleviate symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  792. en:all affected individuals have been stillborn or died in the neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all affected individuals have been stillborn or died in the neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  793. en:all cases are de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases are de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  794. en:all cases due to de novo mutation (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases due to de novo mutation (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  795. en:all cases from a remote village, sabinas, in northern mexico --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases from a remote village, sabinas, in northern mexico | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  796. en:all cases have been sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases have been sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  797. en:all cases have been stillborn or immediate neonatal death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases have been stillborn or immediate neonatal death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  798. en:all cases occur in a jewish religious isolate originally from cochin, india --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases occur in a jewish religious isolate originally from cochin, india | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  799. en:all cases occur in old order amish, lancaster county, pennsylvania --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases occur in old order amish, lancaster county, pennsylvania | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  800. en:all cases presumed de novo mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all cases presumed de novo mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  801. en:all de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  802. en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  803. en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  804. en:all patients have duplication of at least the crebbp gene (600140) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all patients have duplication of at least the crebbp gene (600140) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  805. en:all patients have severe hearing loss 10 to 15 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all patients have severe hearing loss 10 to 15 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  806. en:all reported cases have de novo mutations (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all reported cases have de novo mutations (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  807. en:all reported cases have occurred de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all reported cases have occurred de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  808. en:all reported cases have occurred sporadically --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all reported cases have occurred sporadically | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  809. en:all reported cases have resulted from de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all reported cases have resulted from de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  810. en:all reported cases result from de novo mutation (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all reported cases result from de novo mutation (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  811. en:all reported mutations have occurred de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all reported mutations have occurred de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  812. en:all reported patients are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:all reported patients are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  813. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  814. en:allelic disorder is brugada syndrome (601144) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder is brugada syndrome (601144) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  815. en:allelic disorder is long qt syndrome-3 (lqt3, 603830) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  816. en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  817. en:allelic disorder to adult polyglucosan body disease (263570) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to adult polyglucosan body disease (263570) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  818. en:allelic disorder to androgen insensitivity syndrome (ais, 300068) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  819. en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  820. en:allelic disorder to autosomal dominant form (129490) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal dominant form (129490) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  821. en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  822. en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  823. en:allelic disorder to autosomal dominant spg13 (605280) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal dominant spg13 (605280) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  824. en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  825. en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  826. en:allelic disorder to autosomal recessive form (224900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal recessive form (224900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  827. en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  828. en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  829. en:allelic disorder to brachydactyly type b (113000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to brachydactyly type b (113000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  830. en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  831. en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  832. en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  833. en:allelic disorder to charcot-marie-tooth disease type 1a (118220) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  834. en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  835. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  836. en:allelic disorder to child syndrome (308050) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to child syndrome (308050) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  837. en:allelic disorder to cln8 (600143) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to cln8 (600143) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  838. en:allelic disorder to cmt4a (214400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to cmt4a (214400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  839. en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  840. en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  841. en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  842. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  843. en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  844. en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  845. en:allelic disorder to duane-radial ray syndrome (drrs, 607323) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  846. en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  847. en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  848. en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  849. en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  850. en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  851. en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  852. en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  853. en:allelic disorder to glut1 deficiency syndrome 1 (606777) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  854. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  855. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  856. en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  857. en:allelic disorder to ifap syndrome (308205) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to ifap syndrome (308205) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  858. en:allelic disorder to infantile neuroaxonal dystrophy (256600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  859. en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  860. en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  861. en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  862. en:allelic disorder to juvenile nephronophthisis-1 (256100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to juvenile nephronophthisis-1 (256100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  863. en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  864. en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  865. en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  866. en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  867. en:allelic disorder to limb-mammary syndrome (lms, 603543) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to limb-mammary syndrome (lms, 603543) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  868. en:allelic disorder to long qt syndrome-1 (lqt1, 192500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  869. en:allelic disorder to margarita island type of ectodermal dysplasia (225060) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  870. en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  871. en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  872. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  873. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  874. en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  875. en:allelic disorder to nf1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to nf1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  876. en:allelic disorder to nieman-pick disease type b (607616) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to nieman-pick disease type b (607616) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  877. en:allelic disorder to niemann-pick disease type a (257200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to niemann-pick disease type a (257200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  878. en:allelic disorder to northern epilepsy (610003) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to northern epilepsy (610003) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  879. en:allelic disorder to opitz-kaveggia syndrome (305450) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to opitz-kaveggia syndrome (305450) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  880. en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  881. en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  882. en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  883. en:allelic disorder to paramyotonia congenita (168300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to paramyotonia congenita (168300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  884. en:allelic disorder to parkinson disease-1 (park1, 168601) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to parkinson disease-1 (park1, 168601) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  885. en:allelic disorder to primary erythermalgia (133020) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to primary erythermalgia (133020) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  886. en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  887. en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  888. en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  889. en:allelic disorder to rett syndrome (312750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to rett syndrome (312750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  890. en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  891. en:allelic disorder to rippling muscle disease (rmd, 606072) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to rippling muscle disease (rmd, 606072) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  892. en:allelic disorder to schindler disease (609241) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to schindler disease (609241) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  893. en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  894. en:allelic disorder to spastic paraplegia-3 (spg3, 182600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  895. en:allelic disorder to spinal muscular atrophy type i (253300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to spinal muscular atrophy type i (253300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  896. en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  897. en:allelic disorder to stickler syndrome 3 (184840) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to stickler syndrome 3 (184840) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  898. en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  899. en:allelic disorder to the ivic syndrome (147750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to the ivic syndrome (147750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  900. en:allelic disorder to the zlotogora-ogur syndrome (225000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to the zlotogora-ogur syndrome (225000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  901. en:allelic disorder to type iv glycogen storage disease (232500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to type iv glycogen storage disease (232500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  902. en:allelic disorder to usher syndrome type 1f (602083) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to usher syndrome type 1f (602083) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  903. en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  904. en:allelic disorders with clinical overlap include dss and cmt1b (118200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  905. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  906. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  907. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  908. en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  909. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  910. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  911. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  912. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  913. en:allelic to acrocapitofemoral dysplasia (607778) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to acrocapitofemoral dysplasia (607778) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  914. en:allelic to acrokeratosis verruciformis (101900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to acrokeratosis verruciformis (101900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  915. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  916. en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  917. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  918. en:allelic to aicardi-goutieres syndrome (225750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to aicardi-goutieres syndrome (225750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  919. en:allelic to anterior segment mesenchymal dysgenesis (107250) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to anterior segment mesenchymal dysgenesis (107250) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  920. en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  921. en:allelic to autosomal recessive pxe (264800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to autosomal recessive pxe (264800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  922. en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  923. en:allelic to bardet-biedl syndrome 6 (209900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to bardet-biedl syndrome 6 (209900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  924. en:allelic to birt-hogg-dube syndrome (135150) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to birt-hogg-dube syndrome (135150) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  925. en:allelic to brachydactyly, type a1 (112500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to brachydactyly, type a1 (112500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  926. en:allelic to brachydactyly, type a2 (112600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to brachydactyly, type a2 (112600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  927. en:allelic to cartilage-hair hypoplasia (250250) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to cartilage-hair hypoplasia (250250) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  928. en:allelic to cowden disease (158350), which has a later age at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to cowden disease (158350), which has a later age at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  929. en:allelic to craniometaphyseal dysplasia (123000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to craniometaphyseal dysplasia (123000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  930. en:allelic to deafness, autosomal recessive 12 (601386) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to deafness, autosomal recessive 12 (601386) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  931. en:allelic to deafness, autosomal recessive 23 (609533) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to deafness, autosomal recessive 23 (609533) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  932. en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  933. en:allelic to dentin dysplasia, type 2 (125420) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to dentin dysplasia, type 2 (125420) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  934. en:allelic to dentinogenesis imperfecta 1 (125490) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to dentinogenesis imperfecta 1 (125490) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  935. en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  936. en:allelic to dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to dyggve-melchior-clausen disease (223800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  937. en:allelic to early-onset familial alzheimer disease (ad1, 104300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  938. en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  939. en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  940. en:allelic to ellis-van creveld syndrome (225500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to ellis-van creveld syndrome (225500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  941. en:allelic to enhanced s-cone syndrome (268100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to enhanced s-cone syndrome (268100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  942. en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  943. en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  944. en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  945. en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  946. en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  947. en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  948. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  949. en:allelic to hand osteoarthritis (607850) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to hand osteoarthritis (607850) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  950. en:allelic to hawkinsinuria (140350) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to hawkinsinuria (140350) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  951. en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  952. en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  953. en:allelic to infantile sialic acid storage disorder (269920) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to infantile sialic acid storage disorder (269920) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  954. en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  955. en:allelic to kenny-caffey syndrome type 1 (244460) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to kenny-caffey syndrome type 1 (244460) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  956. en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  957. en:allelic to leopard syndrome (151100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to leopard syndrome (151100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  958. en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  959. en:allelic to marshall syndrome (154780) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to marshall syndrome (154780) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  960. en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  961. en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  962. en:allelic to mevalonic aciduria (610377) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to mevalonic aciduria (610377) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  963. en:allelic to mucolipidosis ii (252500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to mucolipidosis ii (252500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  964. en:allelic to mucopolysaccharidosis ivb --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to mucopolysaccharidosis ivb | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  965. en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  966. en:allelic to multiple pterygium syndrome, lethal type (253290) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to multiple pterygium syndrome, lethal type (253290) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  967. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  968. en:allelic to myosin storage myopathy (608358) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to myosin storage myopathy (608358) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  969. en:allelic to naxos disease (601214) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to naxos disease (601214) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  970. en:allelic to nephronophthisis 4 (606966) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to nephronophthisis 4 (606966) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  971. en:allelic to neurofibromatosis-1 (nf1, 162200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to neurofibromatosis-1 (nf1, 162200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  972. en:allelic to noonan syndrome (163950) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to noonan syndrome (163950) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  973. en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  974. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  975. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  976. en:allelic to pachyonychia congenita jackson-lawler type (167210) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to pachyonychia congenita jackson-lawler type (167210) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  977. en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  978. en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  979. en:allelic to pendred syndrome, deafness with goiter (274600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to pendred syndrome, deafness with goiter (274600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  980. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  981. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  982. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  983. en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  984. en:allelic to pseudoachondroplasia (177170) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to pseudoachondroplasia (177170) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  985. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  986. en:allelic to rett syndrome (312750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to rett syndrome (312750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  987. en:allelic to roberts syndrome (268300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to roberts syndrome (268300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  988. en:allelic to robinow syndrome, autosomal recessive (268310) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to robinow syndrome, autosomal recessive (268310) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  989. en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  990. en:allelic to senior-loken syndrome 4 (606996) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to senior-loken syndrome 4 (606996) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  991. en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  992. en:allelic to several forms of autosomal recessive cmt (see 214400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to several forms of autosomal recessive cmt (see 214400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  993. en:allelic to sialuria, finnish type (604369) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to sialuria, finnish type (604369) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  994. en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  995. en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  996. en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  997. en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  998. en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  999. en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1000. en:allelic to trp1 (190350) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to trp1 (190350) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1001. en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1002. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1003. en:allelic to tyrosinemia, type iii (276720) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to tyrosinemia, type iii (276720) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1004. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1005. en:allelic to usher syndrome, type id (601067) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to usher syndrome, type id (601067) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1006. en:allelic to waardenburg syndrome, type iia (193510) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to waardenburg syndrome, type iia (193510) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1007. en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1008. en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1009. en:allelic with cone-rod dystrophy 10 (610283) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic with cone-rod dystrophy 10 (610283) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1010. en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1011. en:allelic with retinitis pigmentosa 35 (610282) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic with retinitis pigmentosa 35 (610282) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1012. en:allelic with smith-mccort dysplasia (607326) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:allelic with smith-mccort dysplasia (607326) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1013. en:almost all patients require total parenteral nutrition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:almost all patients require total parenteral nutrition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1014. en:alopecia may spontaneously regress, become chronic, or spread diffusely --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:alopecia may spontaneously regress, become chronic, or spread diffusely | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1015. en:alopecia usually occurs around puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:alopecia usually occurs around puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1016. en:alpha thalassemia-mental retardation syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:alpha thalassemia-mental retardation syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1017. en:alpha-l-iduronidase activity is <1% for all forms of mps1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1018. en:also called 'heterozygous osmed' and 'autosomal dominant osmed' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1019. en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1020. en:ambulation is preserved --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ambulation is preserved | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1021. en:ambulation is usually maintained during adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ambulation is usually maintained during adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1022. en:ambulation usually not achieved --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ambulation usually not achieved | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1023. en:amelioration with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:amelioration with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1024. en:an autosomal recessive form has been reported (269720) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:an autosomal recessive form has been reported (269720) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1025. en:anemia does not respond to alpha-interferon treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia does not respond to alpha-interferon treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1026. en:anemia is not responsive to pyridoxine supplementation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia is not responsive to pyridoxine supplementation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1027. en:anemia is transfusion-dependent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia is transfusion-dependent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1028. en:anemia may be responsive to iron chelation treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia may be responsive to iron chelation treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1029. en:anemia may show favorable response to alpha-interferon treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia may show favorable response to alpha-interferon treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1030. en:anemia may show onset in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia may show onset in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1031. en:anemia, diabetes, and deafness often show onset at different ages --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia, diabetes, and deafness often show onset at different ages | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1032. en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1033. en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1034. en:antenatal onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:antenatal onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1035. en:antibodies can develop after pregnancy or transfusion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:antibodies can develop after pregnancy or transfusion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1036. en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1037. en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1038. en:aortic dissection may occur in second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:aortic dissection may occur in second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1039. en:apparent at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:apparent at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1040. en:apparent in newborn at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:apparent in newborn at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1041. en:appear normal at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:appear normal at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1042. en:approximately 10% of als cases are familial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 10% of als cases are familial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1043. en:approximately 12 patients have been reported (as of march 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 12 patients have been reported (as of march 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1044. en:approximately 25% have a severe course and die of respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 25% have a severe course and die of respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1045. en:approximately 35% of patients die during the first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 35% of patients die during the first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1046. en:approximately 40% of patients die within newborn period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 40% of patients die within newborn period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1047. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1048. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1049. en:approximately 50db loss in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 50db loss in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1050. en:approximately 60% of brrs patients have pten mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 60% of brrs patients have pten mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1051. en:approximately 60% of cases are due to somatic mutations and are unilateral --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 60% of cases are due to somatic mutations and are unilateral | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1052. en:approximately 80% of cs patients have pten mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 80% of cs patients have pten mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1053. en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1054. en:approximately half of cases are due to de novo deletions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately half of cases are due to de novo deletions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1055. en:approximately half of cases are due to unbalanced rearrangements, which may be familial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1056. en:approximately half of patients need ambulatory support after the fifth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately half of patients need ambulatory support after the fifth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1057. en:approximately half of the mutations are de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately half of the mutations are de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1058. en:approximately one-third of patients become seizure-free with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:approximately one-third of patients become seizure-free with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1059. en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1060. en:arrhythmias detected prenatally (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:arrhythmias detected prenatally (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1061. en:arteriovenous malformations can occur throughout the body --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:arteriovenous malformations can occur throughout the body | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1062. en:arthralgia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:arthralgia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1063. en:as of 2009, one family has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:as of 2009, one family has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1064. en:assisted ambulation or wheelchair-dependent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:assisted ambulation or wheelchair-dependent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1065. en:associated specifically with the gba d409h mutation (606463.0006) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated specifically with the gba d409h mutation (606463.0006) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1066. en:associated with a balanced translocation t(12,22)(p11.2,q13.3) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1067. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1068. en:associated with deletion at chromosome 2q37 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with deletion at chromosome 2q37 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1069. en:associated with fragile x syndrome (300624) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with fragile x syndrome (300624) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1070. en:associated with fragile x syndrome (309550) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with fragile x syndrome (309550) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1071. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1072. en:associated with idiopathic generalized epilepsy (ige, 600669) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with idiopathic generalized epilepsy (ige, 600669) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1073. en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1074. en:associated with increased paternal age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with increased paternal age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1075. en:associated with increasing age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with increasing age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1076. en:associated with iron deficiency anemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with iron deficiency anemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1077. en:associated with malignant hyperthermia (mhs, 145600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with malignant hyperthermia (mhs, 145600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1078. en:associated with myoclonic epilepsy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with myoclonic epilepsy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1079. en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1080. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1081. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1082. en:associated with the tau (157140) h1 haplotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with the tau (157140) h1 haplotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1083. en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1084. en:associated with tuberous sclerosis (191100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with tuberous sclerosis (191100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1085. en:associated with untreated phenylketonuria (261600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:associated with untreated phenylketonuria (261600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1086. en:association between hla class ii alleles and presence of autoantibodies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:association between hla class ii alleles and presence of autoantibodies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1087. en:association of cardiac events with exercise --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:association of cardiac events with exercise | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1088. en:association with autoimmune diseases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:association with autoimmune diseases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1089. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1090. en:asymmetric muscle involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:asymmetric muscle involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1091. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1092. en:asymptomatic heterozygotes susceptible to lead toxicity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:asymptomatic heterozygotes susceptible to lead toxicity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1093. en:asymptomatic if papillary zone is spared --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:asymptomatic if papillary zone is spared | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1094. en:asymptomatic skin lesions begin on neck in third decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:asymptomatic skin lesions begin on neck in third decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1095. en:asymptomatic younger patients show characteristic basal ganglia calcifications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:asymptomatic younger patients show characteristic basal ganglia calcifications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1096. en:at birth, there is generalized red scaly skin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:at birth, there is generalized red scaly skin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1097. en:ataxia becomes evident at the end of the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ataxia becomes evident at the end of the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1098. en:ataxia is nonprogressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ataxia is nonprogressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1099. en:ataxia is slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ataxia is slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1100. en:attack frequency may occur several times per week to once per year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attack frequency may occur several times per week to once per year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1101. en:attacks are not responsive to acetazolamide --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks are not responsive to acetazolamide | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1102. en:attacks may present during or after sleep --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks may present during or after sleep | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1103. en:attacks often drug-induced --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks often drug-induced | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1104. en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1105. en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1106. en:attacks rarely occur before puberty (hcp) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks rarely occur before puberty (hcp) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1107. en:attacks tend to decrease with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks tend to decrease with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1108. en:attacks triggered by catabolic stress, such as fever or illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks triggered by catabolic stress, such as fever or illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1109. en:attacks typically last for minutes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:attacks typically last for minutes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1110. en:atypical affected males, 'cardiac variants' 301500.0005 exist --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:atypical affected males, 'cardiac variants' 301500.0005 exist | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1111. en:atypical hemolytic-uremic syndrome shows onset in first 12 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1112. en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1113. en:aura may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:aura may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1114. en:autoimmune manifestations are present in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autoimmune manifestations are present in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1115. en:autonomic dysfunction usually precedes obvious neurologic deterioration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autonomic dysfunction usually precedes obvious neurologic deterioration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1116. en:autonomic symptoms occur with headaches --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autonomic symptoms occur with headaches | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1117. en:autosomal dominant and autosomal recessive forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant and autosomal recessive forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1118. en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1119. en:autosomal dominant inheritance has been rarely reported (187800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant inheritance has been rarely reported (187800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1120. en:autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant inheritance has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1121. en:autosomal dominant inheritance has been reported in a single family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant inheritance has been reported in a single family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1122. en:autosomal dominant omodysplasia has also been described (164745) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant omodysplasia has also been described (164745) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1123. en:autosomal dominant transmission has been rarely reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant transmission has been rarely reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1124. en:autosomal dominant with complete penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant with complete penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1125. en:autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal dominant with incomplete penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1126. en:autosomal recessive and dominant pedigrees described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive and dominant pedigrees described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1127. en:autosomal recessive cases have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive cases have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1128. en:autosomal recessive cases tend to have a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive cases tend to have a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1129. en:autosomal recessive cytochrome b-negative cgd (233690) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive cytochrome b-negative cgd (233690) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1130. en:autosomal recessive cytochrome b-positive cgd, type i --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive cytochrome b-positive cgd, type i | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1131. en:autosomal recessive cytochrome b-positive cgd, type i (233700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1132. en:autosomal recessive cytochrome b-positive cgd, type ii --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1133. en:autosomal recessive cytochrome b-positive cgd, type ii (233710) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1134. en:autosomal recessive form (240220) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive form (240220) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1135. en:autosomal recessive inheritance (245600) has also been suggested --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance (245600) has also been suggested | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1136. en:autosomal recessive inheritance can occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance can occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1137. en:autosomal recessive inheritance has also been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has also been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1138. en:autosomal recessive inheritance has been described in 2 families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has been described in 2 families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1139. en:autosomal recessive inheritance has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1140. en:autosomal recessive inheritance has been reported (see 601253.0010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has been reported (see 601253.0010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1141. en:autosomal recessive inheritance has been reported in 1 case --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has been reported in 1 case | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1142. en:autosomal recessive inheritance has been reported in 1 family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has been reported in 1 family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1143. en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1144. en:autosomal recessive inheritance has been suggested --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance has been suggested | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1145. en:autosomal recessive inheritance in one family (see 603342.0010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance in one family (see 603342.0010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1146. en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1147. en:autosomal recessive inheritance with earlier onset has been suggested --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive inheritance with earlier onset has been suggested | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1148. en:autosomal recessive omodysplasia has also been described (258315) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:autosomal recessive omodysplasia has also been described (258315) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1149. en:average age at death is 37 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at death is 37 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1150. en:average age at onset 16.6 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset 16.6 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1151. en:average age at onset 18 years (range 15 to 25 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset 18 years (range 15 to 25 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1152. en:average age at onset 18.6 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset 18.6 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1153. en:average age at onset 19 years (range 5 to 38) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset 19 years (range 5 to 38) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1154. en:average age at onset 31 years (range 7 to 54) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset 31 years (range 7 to 54) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1155. en:average age at onset 38 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset 38 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1156. en:average age at onset 66 years although earlier onset may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset 66 years although earlier onset may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1157. en:average age at onset is 24 years (range 4 to 58 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age at onset is 24 years (range 4 to 58 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1158. en:average age of onset 13 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age of onset 13 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1159. en:average age of onset 15 years (range 4 to 40) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age of onset 15 years (range 4 to 40) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1160. en:average age of onset 57 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age of onset 57 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1161. en:average age of onset 6 months (range birth - 2 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average age of onset 6 months (range birth - 2 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1162. en:average duration of illness 8 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average duration of illness 8 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1163. en:average onset 6 months (range 3-9) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:average onset 6 months (range 3-9) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1164. en:axial skeleton most commonly affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:axial skeleton most commonly affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1165. en:basal cell neoplasms develop after second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:basal cell neoplasms develop after second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1166. en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1167. en:based on 1 4-generation chinese family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 4-generation chinese family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1168. en:based on 1 5-generation family (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 5-generation family (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1169. en:based on 1 family (last curated september 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 family (last curated september 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1170. en:based on 1 large swiss german kindred (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 large swiss german kindred (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1171. en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1172. en:based on 1 report of monozygotic twins (last curated may 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 report of monozygotic twins (last curated may 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1173. en:based on 1 reported family (last curated december 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 reported family (last curated december 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1174. en:based on 1 reported family with oca6 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 reported family with oca6 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1175. en:based on 1 reported patient (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 reported patient (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1176. en:based on 1 uruguayan family (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 1 uruguayan family (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1177. en:based on 13 patients in one family (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 13 patients in one family (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1178. en:based on 2 cousins in a consanguineous family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 cousins in a consanguineous family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1179. en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1180. en:based on 2 men from 2 unrelated consanguineous iranian families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 men from 2 unrelated consanguineous iranian families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1181. en:based on 2 patients with p4hb mutations (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 patients with p4hb mutations (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1182. en:based on 2 reported patients (last curated january 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 reported patients (last curated january 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1183. en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1184. en:based on 2 reports of 3 patients (last curated september 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 reports of 3 patients (last curated september 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1185. en:based on 2 siblings in 1 family (last curated september 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 siblings in 1 family (last curated september 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1186. en:based on 2 siblings in a consanguineous family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 siblings in a consanguineous family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1187. en:based on 2 unrelated chinese families (last curated july 2014). --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 2 unrelated chinese families (last curated july 2014). | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1188. en:based on 3 patients from 2 families (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 3 patients from 2 families (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1189. en:based on 4 patients in one family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 4 patients in one family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1190. en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1191. en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1192. en:based on a report of 2 affected male cousins (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on a report of 2 affected male cousins (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1193. en:based on a report of 2 monozygotic twin girls (last curated october 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1194. en:based on a report of 2 unrelated saudi patients (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1195. en:based on a report of one dutch family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on a report of one dutch family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1196. en:based on description of 1 family (last curated april 2006) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on description of 1 family (last curated april 2006) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1197. en:based on detailed clinical description of 1 family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on detailed clinical description of 1 family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1198. en:based on four patients in a four generation family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on four patients in a four generation family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1199. en:based on one 4-generation german family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one 4-generation german family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1200. en:based on one 4-generation italian family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one 4-generation italian family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1201. en:based on one consanguineous palestinian family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one consanguineous palestinian family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1202. en:based on one finnish family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one finnish family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1203. en:based on one italian family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one italian family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1204. en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1205. en:based on one large north american family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one large north american family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1206. en:based on one pakistani family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one pakistani family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1207. en:based on one patient (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one patient (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1208. en:based on one report of 3 consanguineous pakistani families (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1209. en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1210. en:based on one report of 4 unrelated sporadic patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one report of 4 unrelated sporadic patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1211. en:based on one report of a 4-generation family with 4 affected males and 6 affected females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1212. en:based on one report of brother and sister --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on one report of brother and sister | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1213. en:based on report of 1 3-generation family (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 3-generation family (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1214. en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1215. en:based on report of 1 consanguineous pakistani family (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1216. en:based on report of 1 consanguineous turkish family (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 consanguineous turkish family (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1217. en:based on report of 1 family (last curated december 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 family (last curated december 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1218. en:based on report of 1 family (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 family (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1219. en:based on report of 1 family (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 family (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1220. en:based on report of 1 family (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 family (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1221. en:based on report of 1 family (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 family (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1222. en:based on report of 1 family of german ancestry (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 family of german ancestry (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1223. en:based on report of 1 family with 7 affected members --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 family with 7 affected members | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1224. en:based on report of 1 japanese family (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 japanese family (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1225. en:based on report of 1 large 6-generation family (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 large 6-generation family (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1226. en:based on report of 1 large dutch pedigree (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 large dutch pedigree (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1227. en:based on report of 1 saudi arabian family (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 saudi arabian family (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1228. en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1229. en:based on report of 2 affected brothers in 1 family (last curated october 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1230. en:based on report of 2 affected sisters (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 affected sisters (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1231. en:based on report of 2 consanguineous arab families (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 consanguineous arab families (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1232. en:based on report of 2 consanguineous pakistani families (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1233. en:based on report of 2 families (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 families (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1234. en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1235. en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1236. en:based on report of 2 probands (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 probands (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1237. en:based on report of 2 siblings and 1 patient (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 siblings and 1 patient (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1238. en:based on report of 2 sisters (last curated october 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 sisters (last curated october 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1239. en:based on report of 2 turkish sisters (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 turkish sisters (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1240. en:based on report of 2 unrelated girls (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 unrelated girls (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1241. en:based on report of 2 unrelated japanese girls (last curated october 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 unrelated japanese girls (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1242. en:based on report of 2 unrelated patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 unrelated patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1243. en:based on report of 2 unrelated patients (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 unrelated patients (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1244. en:based on report of 2 unrelated patients (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 2 unrelated patients (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1245. en:based on report of 3 patients from 2 families (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 3 patients from 2 families (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1246. en:based on report of 3 unrelated children (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 3 unrelated children (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1247. en:based on report of 3 unrelated patients (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 3 unrelated patients (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1248. en:based on report of 4 unrelated patients (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 4 unrelated patients (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1249. en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1250. en:based on report of a chinese father and son (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of a chinese father and son (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1251. en:based on report of a hispanic mother and son (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of a hispanic mother and son (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1252. en:based on report of one 5-generation family (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of one 5-generation family (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1253. en:based on report of one consanguineous kuwaiti family (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1254. en:based on report of one indian family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of one indian family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1255. en:based on report of one polish roma patient (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on report of one polish roma patient (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1256. en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1257. en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1258. en:based on reports of one family and one patient (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on reports of one family and one patient (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1259. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1260. en:based on the report of 1 consanguineous arab family (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on the report of 1 consanguineous arab family (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1261. en:based on the report of 1 japanese family (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on the report of 1 japanese family (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1262. en:based on the report of one consanguineous pakistani family (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on the report of one consanguineous pakistani family (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1263. en:based on the report of one lebanese family (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:based on the report of one lebanese family (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1264. en:because fetal chrng (100730) exhibits phenotypic rescue --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:because fetal chrng (100730) exhibits phenotypic rescue | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1265. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1266. en:begins as focal dystonia, later becomes segmental or generalized --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:begins as focal dystonia, later becomes segmental or generalized | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1267. en:begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:begins in feet and legs (peroneal distribution) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1268. en:begins in hands or feet, later generalized --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:begins in hands or feet, later generalized | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1269. en:behavioral problems including stubbornness and rage --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:behavioral problems including stubbornness and rage | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1270. en:benign condition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:benign condition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1271. en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1272. en:benign trait --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:benign trait | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1273. en:benign, asymptomatic defect --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:benign, asymptomatic defect | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1274. en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1275. en:between 2 and 7% of children will develop afebrile seizure disorders later in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1276. en:bilateral involvement in 10% of cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bilateral involvement in 10% of cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1277. en:bimodal age of onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bimodal age of onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1278. en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1279. en:birth date:time stamp -- date and time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1280. en:birth incidence approximately 5.1 per million live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:birth incidence approximately 5.1 per million live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1281. en:birth rate of 7.6 per 1,000,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:birth rate of 7.6 per 1,000,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1282. en:bleeding after trauma or surgery --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bleeding after trauma or surgery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1283. en:bleeding episodes occur early in life and may disappear with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bleeding episodes occur early in life and may disappear with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1284. en:blindness episodes are not associated with fhm episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blindness episodes are not associated with fhm episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1285. en:blistering and erosions tend to occur on extensor surfaces or over bony prominences --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1286. en:blistering becomes confined to the palms and soles with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blistering becomes confined to the palms and soles with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1287. en:blistering frequency may decrease with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blistering frequency may decrease with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1288. en:blistering may worsen during the summer --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blistering may worsen during the summer | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1289. en:blistering tends to improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blistering tends to improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1290. en:blood glucose monitor with integrated lancing/blood sample --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blood glucose monitor with integrated lancing/blood sample | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1291. en:blood glucose monitor with integrated voice synthesizer --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:blood glucose monitor with integrated voice synthesizer | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1292. en:body habitus becomes apparent in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:body habitus becomes apparent in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1293. en:bone abnormalities improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bone abnormalities improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1294. en:bone anomalies may be seen on prenatal ultrasound (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1295. en:bone changes tend to develop after first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bone changes tend to develop after first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1296. en:bone fragility is not apparent at birth, but becomes evident within several months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bone fragility is not apparent at birth, but becomes evident within several months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1297. en:both autosomal dominant and autosomal recessive inheritance have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both autosomal dominant and autosomal recessive inheritance have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1298. en:both autosomal dominant and recessive inheritance can occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both autosomal dominant and recessive inheritance can occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1299. en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1300. en:both demyelinating and axonal features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both demyelinating and axonal features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1301. en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1302. en:both heterozygous and homozygous mutations have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both heterozygous and homozygous mutations have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1303. en:both heterozygous and homozygous pax3 mutations have been found --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both heterozygous and homozygous pax3 mutations have been found | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1304. en:both homozygous and heterozygous edn3 mutations have been found --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both homozygous and heterozygous edn3 mutations have been found | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1305. en:both homozygous and heterozygous ednrb mutations have been found --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both homozygous and heterozygous ednrb mutations have been found | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1306. en:both homozygous and heterozygous mutations in lrsam1 have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both homozygous and heterozygous mutations in lrsam1 have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1307. en:both recessive and dominant inheritance have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both recessive and dominant inheritance have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1308. en:both reported cases survived beyond infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:both reported cases survived beyond infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1309. en:brain anomalies variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:brain anomalies variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1310. en:brain mri abnormalities show improvement with time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:brain mri abnormalities show improvement with time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1311. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1312. en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1313. en:breech position --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:breech position | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1314. en:breech presentation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:breech presentation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1315. en:broad range in severity of presentation in sibships --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:broad range in severity of presentation in sibships | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1316. en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1317. en:broad-based gait --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:broad-based gait | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1318. en:bullae are located randomly in familial cases and apical in sporadic cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:bullae are located randomly in familial cases and apical in sporadic cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1319. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1320. en:c10orf2 mutations account for approximately 35% of all peo cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:c10orf2 mutations account for approximately 35% of all peo cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1321. en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1322. en:can be asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can be asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1323. en:can be categorized into 3 groups --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can be categorized into 3 groups | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1324. en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1325. en:can be effectively treated with n-carbamylglutamate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can be effectively treated with n-carbamylglutamate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1326. en:can be slowly or rapidly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can be slowly or rapidly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1327. en:can be treated by bone marrow transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can be treated by bone marrow transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1328. en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1329. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1330. en:cancer onset usually in mid-adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cancer onset usually in mid-adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1331. en:candidiasis is restricted to nails of hands and feet --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:candidiasis is restricted to nails of hands and feet | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1332. en:candidiasis is usually the first symptom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:candidiasis is usually the first symptom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1333. en:capillary malformation are apparent at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:capillary malformation are apparent at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1334. en:carcinomas tend to develop in mid or late adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carcinomas tend to develop in mid or late adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1335. en:cardiac and pulmonary dysfunction normalize in the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiac and pulmonary dysfunction normalize in the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1336. en:cardiac arrest and sudden death may occur, even in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiac arrest and sudden death may occur, even in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1337. en:cardiac failure at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiac failure at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1338. en:cardiac features are observed in ~3% of cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiac features are observed in ~3% of cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1339. en:cardiac involvement occurs between 5 and 12 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiac involvement occurs between 5 and 12 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1340. en:cardiac manifestations are often fatal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiac manifestations are often fatal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1341. en:cardiomyopathy may develop later in the disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cardiomyopathy may develop later in the disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1342. en:carnitine supplementation can prevent further episodes and declines in cardiac function --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carnitine supplementation can prevent further episodes and declines in cardiac function | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1343. en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1344. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1345. en:carrier females are normal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females are normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1346. en:carrier females are unaffected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females are unaffected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1347. en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1348. en:carrier females have arthralgias in middle age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females have arthralgias in middle age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1349. en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1350. en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1351. en:carrier females may have mild features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females may have mild features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1352. en:carrier females may present with postpartum hyperammonemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females may present with postpartum hyperammonemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1353. en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1354. en:carrier females may show mild mental retardation or learning disabilities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females may show mild mental retardation or learning disabilities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1355. en:carrier females may show neuropsychologic impairment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females may show neuropsychologic impairment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1356. en:carrier females show no clinical phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier females show no clinical phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1357. en:carrier frequency 1:1,000 in french-canadians in quebec --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier frequency 1:1,000 in french-canadians in quebec | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1358. en:carrier frequency 1:200,000 in france --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier frequency 1:200,000 in france | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1359. en:carrier frequency 1:700 in bukhara jewish populations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier frequency 1:700 in bukhara jewish populations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1360. en:carrier frequency in finland 1/40 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier frequency in finland 1/40 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1361. en:carrier frequency in finland is 1 in 230 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier frequency in finland is 1 in 230 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1362. en:carrier males are fertile --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier males are fertile | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1363. en:carrier males are unaffected except for psychiatric/behavioral abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1364. en:carrier mothers have urine biochemistry profiles identical to those of their sons --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier mothers have urine biochemistry profiles identical to those of their sons | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1365. en:carrier rate of 1 in 11 among old order amish --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier rate of 1 in 11 among old order amish | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1366. en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1367. en:cases reported in the old order amish and one japanese family (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cases reported in the old order amish and one japanese family (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1368. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1369. en:cataract evident at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cataract evident at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1370. en:cataracts are progressive but may vary between eyes of an individual --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cataracts are progressive but may vary between eyes of an individual | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1371. en:cataracts develop by second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cataracts develop by second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1372. en:cataracts may be subclinical in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cataracts may be subclinical in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1373. en:cataracts present at birth or develop in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cataracts present at birth or develop in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1374. en:cataracts variably present at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cataracts variably present at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1375. en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1376. en:cause of death usually due to respiratory failure before adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cause of death usually due to respiratory failure before adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1377. en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1378. en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1379. en:caused by a defect in bile acid transport --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by a defect in bile acid transport | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1380. en:caused by constitutive activation of the avpr2 receptor --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by constitutive activation of the avpr2 receptor | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1381. en:caused by heterozygous germline mutation and second-hit somatic mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by heterozygous germline mutation and second-hit somatic mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1382. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1383. en:caused by inborn error in bile acid synthesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by inborn error in bile acid synthesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1384. en:caused by inheritance of the mutation on the maternal allele (imprinting) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by inheritance of the mutation on the maternal allele (imprinting) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1385. en:caused by paternally-inherited inactivating gnas1 mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by paternally-inherited inactivating gnas1 mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1386. en:caused by somatic mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:caused by somatic mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1387. en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1388. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1389. en:cells of origin are part of the diffuse neuroendocrine system (dnes) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1390. en:central apneic episodes may be fatal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:central apneic episodes may be fatal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1391. en:central hypoventilation occurs late in the disease and is often fatal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:central hypoventilation occurs late in the disease and is often fatal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1392. en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1393. en:cerebellar ataxia shows onset in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cerebellar ataxia shows onset in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1394. en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1395. en:changes more marked in hands than feet --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:changes more marked in hands than feet | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1396. en:characteristic face and body by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:characteristic face and body by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1397. en:characteristic facial features become more apparent with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:characteristic facial features become more apparent with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1398. en:characterized by calf weakness at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:characterized by calf weakness at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1399. en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1400. en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1401. en:cheerful disposition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cheerful disposition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1402. en:chelation therapy can result in clinical improvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chelation therapy can result in clinical improvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1403. en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1404. en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1405. en:childhood onset (average 4 to 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood onset (average 4 to 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1406. en:childhood onset (range birth to 12 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood onset (range birth to 12 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1407. en:childhood onset has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1408. en:childhood onset has been reported in 1 family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood onset has been reported in 1 family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1409. en:childhood onset may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood onset may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1410. en:childhood onset rarely occurs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood onset rarely occurs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1411. en:childhood or adolescent onset, protracted, with myopathy and neuropathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1412. en:childhood or young adult onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:childhood or young adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1413. en:children rarely develop the disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:children rarely develop the disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1414. en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1415. en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1416. en:cholinesterase inhibitors may be beneficial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cholinesterase inhibitors may be beneficial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1417. en:chromosomal hypersensitivity to ionizing radiation and alkylating agents --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1418. en:chromosome rearrangements have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chromosome rearrangements have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1419. en:chronic disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chronic disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1420. en:chronic, relapsing condition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:chronic, relapsing condition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1421. en:citation:bib:pt:reference lab test:nar --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:citation:bib:pt:reference lab test:nar | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1422. en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1423. en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1424. en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1425. en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1426. en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1427. en:classical form (type i), less severe with survival into adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:classical form (type i), less severe with survival into adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1428. en:clinical and biochemical abnormalities improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical and biochemical abnormalities improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1429. en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1430. en:clinical and pathologic features of both demyelinating and axonal cmt --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical and pathologic features of both demyelinating and axonal cmt | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1431. en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1432. en:clinical features based on 1 reported family (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical features based on 1 reported family (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1433. en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1434. en:clinical features may vary --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical features may vary | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1435. en:clinical features other than liver findings may vary --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical features other than liver findings may vary | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1436. en:clinical features present only if mutation inherited on paternal allele --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical features present only if mutation inherited on paternal allele | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1437. en:clinical improvement after 2 to 3 weeks of supportive care --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical improvement after 2 to 3 weeks of supportive care | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1438. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1439. en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1440. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1441. en:clinical onset within first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical onset within first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1442. en:clinical overlap with charcot-marie-tooth disease type 2c (606071) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1443. en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1444. en:clinical overlap with dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1445. en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1446. en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1447. en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1448. en:clinical presentation varies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical presentation varies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1449. en:clinical severity varies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical severity varies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1450. en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1451. en:clinical variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1452. en:clinical variability seen in waardenburg syndrome type 1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical variability seen in waardenburg syndrome type 1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1453. en:clinical variation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinical variation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1454. en:clinically 'silent' nystagmus evident on eye movement recording in carrier females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1455. en:clinically classified into classic, atypical, and intermediate phenotypes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinically classified into classic, atypical, and intermediate phenotypes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1456. en:clinically mimics congenital torch infections (see 251290) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinically mimics congenital torch infections (see 251290) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1457. en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1458. en:clinically unaffected heterozygotes may show changes on electroretinography --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clinically unaffected heterozygotes may show changes on electroretinography | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1459. en:clonazepam and diazepam may be effective in preventing or lessening severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clonazepam and diazepam may be effective in preventing or lessening severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1460. en:clonidine can alleviate hyperhidrosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clonidine can alleviate hyperhidrosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1461. en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1462. en:clubfoot is bilateral in most patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:clubfoot is bilateral in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1463. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1464. en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1465. en:codominant inheritance has been suggested --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:codominant inheritance has been suggested | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1466. en:colchicine treatment is not effective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:colchicine treatment is not effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1467. en:cold temeratures exacerbate symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cold temeratures exacerbate symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1468. en:cold-induced sweating develops late in the first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cold-induced sweating develops late in the first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1469. en:colorectal cancer develops by fourth decade in untreated patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:colorectal cancer develops by fourth decade in untreated patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1470. en:common (up to 7% of the population) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:common (up to 7% of the population) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1471. en:common in afrikaan population, south africa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:common in afrikaan population, south africa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1472. en:common in japan and other asian populations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:common in japan and other asian populations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1473. en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1474. en:common in south african whites --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:common in south african whites | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1475. en:communication board, non-electronic augmentative or alternative communication device --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:communication board, non-electronic augmentative or alternative communication device | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1476. en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1477. en:complementation group b (represented by single atypical patient) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complementation group b (represented by single atypical patient) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1478. en:complementation group c (variant mliii, 252605) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complementation group c (variant mliii, 252605) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1479. en:complementation groups - complementation group a (classic mliii, 252600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complementation groups - complementation group a (classic mliii, 252600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1480. en:complete absence of melanin synthesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complete absence of melanin synthesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1481. en:complete manifestation in males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complete manifestation in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1482. en:complete penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complete penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1483. en:complete penetrance but extreme variability of phenotypic expression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complete penetrance but extreme variability of phenotypic expression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1484. en:complete penetrance with variable expressivity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complete penetrance with variable expressivity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1485. en:complete recovery during intervals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complete recovery during intervals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1486. en:complete recovery upon treatment of hyperthyroidism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complete recovery upon treatment of hyperthyroidism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1487. en:complicated and pure forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:complicated and pure forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1488. en:comprises several subtypes, including --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:comprises several subtypes, including | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1489. en:condition is experienced by patients as harmless and is often discovered incidentally --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:condition is experienced by patients as harmless and is often discovered incidentally | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1490. en:conduction defect is progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:conduction defect is progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1491. en:cone-shaped epiphyses usually not present before age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cone-shaped epiphyses usually not present before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1492. en:congenital - over 2,000 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital - over 2,000 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1493. en:congenital abnormality --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital abnormality | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1494. en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1495. en:congenital disorders --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital disorders | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1496. en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1497. en:congenital linear skin defects may disappear within a few months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital linear skin defects may disappear within a few months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1498. en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1499. en:congenital onset or onset before 2 years (prelingual) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital onset or onset before 2 years (prelingual) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1500. en:congenital or early onset hearing loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital or early onset hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1501. en:congenital reduction in visual acuity is nonprogressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital reduction in visual acuity is nonprogressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1502. en:connatal form (type ii), most severe with death in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:connatal form (type ii), most severe with death in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1503. en:considered a benign disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered a benign disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1504. en:considered a myeloproliferative disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered a myeloproliferative disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1505. en:considered a normal variant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered a normal variant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1506. en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1507. en:considered to be a manifestation of the caudal regression syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered to be a manifestation of the caudal regression syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1508. en:considered to be a severe form of gaucher disease type ii (230900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered to be a severe form of gaucher disease type ii (230900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1509. en:considered to be a variant of gaucher disease type iii (231000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered to be a variant of gaucher disease type iii (231000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1510. en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1511. en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1512. en:contiguous gene deletion syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contiguous gene deletion syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1513. en:contiguous gene deletion syndrome (in most patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contiguous gene deletion syndrome (in most patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1514. en:contiguous gene deletion syndrome at chromosome 6p --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contiguous gene deletion syndrome at chromosome 6p | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1515. en:contiguous gene deletion syndrome of 5q31 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contiguous gene deletion syndrome of 5q31 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1516. en:contiguous gene duplication syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contiguous gene duplication syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1517. en:contiguous gene syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contiguous gene syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1518. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1519. en:continuing ovulation and implantation after initiation of another pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:continuing ovulation and implantation after initiation of another pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1520. en:contractures at birth or difficulties in the neonatal period resolve --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contractures at birth or difficulties in the neonatal period resolve | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1521. en:contractures most severe by midadolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:contractures most severe by midadolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1522. en:corneal diameter decreases with decreasing axial length --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:corneal diameter decreases with decreasing axial length | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1523. en:corneal steepening is proportional to the degree of axial foreshortening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:corneal steepening is proportional to the degree of axial foreshortening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1524. en:coronary artery disease or myocardial infarction in fifth or sixth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1525. en:corrected by bone marrow transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:corrected by bone marrow transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1526. en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1527. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1528. en:crisis precipitated by high altitude exposure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:crisis precipitated by high altitude exposure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1529. en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1530. en:cutaneous leiomyomas increase in number over time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cutaneous leiomyomas increase in number over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1531. en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1532. en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1533. en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1534. en:cyp2d6 represents about 1% of total liver cytochrome p450 content --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1535. en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1536. en:d-hus is usually familial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:d-hus is usually familial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1537. en:date of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:date of analysis:tmstp:pt:xxx:qn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1538. en:date of autopsy:date:pt:^patient:qn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:date of autopsy:date:pt:^patient:qn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1539. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1540. en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1541. en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1542. en:date ultrasound:date:pt:^patient:qn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:date ultrasound:date:pt:^patient:qn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1543. en:de novo deletions in 8% of patients (preferentially paternally derived) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo deletions in 8% of patients (preferentially paternally derived) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1544. en:de novo mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1545. en:de novo mutation (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutation (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1546. en:de novo mutation identified in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutation identified in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1547. en:de novo mutation in heterozygotes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutation in heterozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1548. en:de novo mutation in most patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutation in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1549. en:de novo mutation in some cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutation in some cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1550. en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1551. en:de novo mutations occur almost exclusively on the paternally derived x chromosome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1552. en:deafness is presenting symptom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deafness is presenting symptom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1553. en:death about 20 years after symptom onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death about 20 years after symptom onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1554. en:death at 10 to 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death at 10 to 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1555. en:death at 13 to 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death at 13 to 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1556. en:death at 20 to 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death at 20 to 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1557. en:death at birth or within first 2 years of life (severe form) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death at birth or within first 2 years of life (severe form) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1558. en:death before age 15 in iia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death before age 15 in iia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1559. en:death before age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death before age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1560. en:death between 2 years of age and young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death between 2 years of age and young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1561. en:death by age 15 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death by age 15 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1562. en:death by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1563. en:death by age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death by age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1564. en:death by age 5 (infantile form) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death by age 5 (infantile form) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1565. en:death by age 6-7 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death by age 6-7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1566. en:death can occur in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death can occur in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1567. en:death due to respiratory failure or infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death due to respiratory failure or infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1568. en:death due to respiratory insufficiency within minutes to hours after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death due to respiratory insufficiency within minutes to hours after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1569. en:death frequent in severe infantile form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death frequent in severe infantile form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1570. en:death from stroke if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death from stroke if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1571. en:death in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1572. en:death in childhood is frequent due to respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood is frequent due to respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1573. en:death in childhood may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1574. en:death in childhood may occur due to end-stage renal disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood may occur due to end-stage renal disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1575. en:death in childhood may occur due to infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood may occur due to infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1576. en:death in childhood occurs without bone marrow transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood occurs without bone marrow transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1577. en:death in childhood often results from respiratory insufficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood often results from respiratory insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1578. en:death in childhood secondary to malabsorption --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in childhood secondary to malabsorption | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1579. en:death in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1580. en:death in early childhood has been reported in some presumed homozygotes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in early childhood has been reported in some presumed homozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1581. en:death in early childhood may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in early childhood may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1582. en:death in early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1583. en:death in early infancy (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in early infancy (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1584. en:death in first days of life (family b) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in first days of life (family b) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1585. en:death in first days or months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in first days or months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1586. en:death in first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1587. en:death in first weeks of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in first weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1588. en:death in first-second decade of life secondary to cardio-respiratory compromise --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in first-second decade of life secondary to cardio-respiratory compromise | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1589. en:death in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1590. en:death in infancy (1 patient) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy (1 patient) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1591. en:death in infancy (patient b) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy (patient b) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1592. en:death in infancy common for patients with the classic neonatal form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy common for patients with the classic neonatal form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1593. en:death in infancy due to hyperthermia or apnea --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy due to hyperthermia or apnea | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1594. en:death in infancy in majority of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy in majority of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1595. en:death in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1596. en:death in infancy secondary to kernicterus --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy secondary to kernicterus | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1597. en:death in infancy secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy secondary to pulmonary insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1598. en:death in infancy without bone marrow transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy without bone marrow transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1599. en:death in infancy, usually from sepsis, dehydration, or acidosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in infancy, usually from sepsis, dehydration, or acidosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1600. en:death in neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1601. en:death in teens secondary to cardiac failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in teens secondary to cardiac failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1602. en:death in the fifth or sixth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in the fifth or sixth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1603. en:death in the first decade, usually from liver failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in the first decade, usually from liver failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1604. en:death in the first months or years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in the first months or years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1605. en:death in the first years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in the first years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1606. en:death in the mid-twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in the mid-twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1607. en:death in untreated children --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in untreated children | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1608. en:death in utero --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in utero | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1609. en:death in utero (30%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in utero (30%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1610. en:death in utero or as neonate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in utero or as neonate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1611. en:death in utero or early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in utero or early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1612. en:death in utero or in early infancy is common --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in utero or in early infancy is common | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1613. en:death in utero or in the perinatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death in utero or in the perinatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1614. en:death may occur in childhood due to respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death may occur in childhood due to respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1615. en:death may occur in early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death may occur in early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1616. en:death may occur in late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death may occur in late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1617. en:death may occur in the first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death may occur in the first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1618. en:death occurs 10 to 20 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death occurs 10 to 20 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1619. en:death occurs 5 to 10 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death occurs 5 to 10 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1620. en:death occurs before 12 months of age due to cardiorespiratory arrest --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death occurs before 12 months of age due to cardiorespiratory arrest | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1621. en:death occurs early in neonatal period due to respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death occurs early in neonatal period due to respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1622. en:death occurs in second or third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death occurs in second or third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1623. en:death often before age 2 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often before age 2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1624. en:death often by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1625. en:death often in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1626. en:death often in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1627. en:death often in early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often in early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1628. en:death often in first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often in first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1629. en:death often in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1630. en:death often in the teenage years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often in the teenage years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1631. en:death often occurs during metabolic/acidotic crisis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often occurs during metabolic/acidotic crisis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1632. en:death often occurs in the first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often occurs in the first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1633. en:death often secondary to infectious disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often secondary to infectious disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1634. en:death often secondary to pneumonia or congestive heart failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death often secondary to pneumonia or congestive heart failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1635. en:death secondary to respiratory infection or failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death secondary to respiratory infection or failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1636. en:death secondary to respiratory insufficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death secondary to respiratory insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1637. en:death usually by 1 year of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually by 1 year of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1638. en:death usually by age 10 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually by age 10 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1639. en:death usually by age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually by age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1640. en:death usually due to renal failure by average age 3 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually due to renal failure by average age 3 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1641. en:death usually due to respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually due to respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1642. en:death usually in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1643. en:death usually in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1644. en:death usually in infancy due to respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in infancy due to respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1645. en:death usually in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1646. en:death usually in sixth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in sixth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1647. en:death usually in teenage years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in teenage years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1648. en:death usually in the first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in the first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1649. en:death usually in the perinatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually in the perinatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1650. en:death usually occurs before 5th decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs before 5th decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1651. en:death usually occurs by 12 months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs by 12 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1652. en:death usually occurs by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1653. en:death usually occurs in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1654. en:death usually occurs in early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs in early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1655. en:death usually occurs in first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs in first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1656. en:death usually occurs in infancy or childhood if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs in infancy or childhood if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1657. en:death usually occurs in the first weeks to months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually occurs in the first weeks to months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1658. en:death usually within first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually within first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1659. en:death usually within first weeks of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually within first weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1660. en:death usually within first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death usually within first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1661. en:death within 12 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within 12 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1662. en:death within 3 months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within 3 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1663. en:death within 6 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within 6 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1664. en:death within first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1665. en:death within first months or years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within first months or years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1666. en:death within first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1667. en:death within first year of life in 25% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within first year of life in 25% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1668. en:death within several months if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:death within several months if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1669. en:decrease in frequency and severity of episodes in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:decrease in frequency and severity of episodes in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1670. en:decrease in seizure frequency in middle age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:decrease in seizure frequency in middle age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1671. en:decreased bilirubin concentration with phenobarbital administration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:decreased bilirubin concentration with phenobarbital administration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1672. en:decreased fertility --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:decreased fertility | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1673. en:decreased life expectancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:decreased life expectancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1674. en:decreased penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:decreased penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1675. en:defect in tetrahydrobiopterin (bh4) synthesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:defect in tetrahydrobiopterin (bh4) synthesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1676. en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1677. en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1678. en:delayed psychomotor development apparent in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:delayed psychomotor development apparent in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1679. en:delayed separation of umbilical cord --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:delayed separation of umbilical cord | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1680. en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1681. en:deletion sizes range from 287kb to 4.4mb --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deletion sizes range from 287kb to 4.4mb | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1682. en:deletions in naip gene (600355) found in 18% of sma2 patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deletions in naip gene (600355) found in 18% of sma2 patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1683. en:deletions in naip gene (600355) found in 18% of smaii patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deletions in naip gene (600355) found in 18% of smaii patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1684. en:deletions occur de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:deletions occur de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1685. en:delta-f508 present in 70% of alleles --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:delta-f508 present in 70% of alleles | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1686. en:dermatitis resolves in offspring after zinc supplementation and/or weaning --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1687. en:described in 3 unrelated infants (last curated january 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in 3 unrelated infants (last curated january 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1688. en:described in 6 japanese families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in 6 japanese families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1689. en:described in families from galicia, spain --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in families from galicia, spain | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1690. en:described in families from western japan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in families from western japan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1691. en:described in individuals of jewish bukharian descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in individuals of jewish bukharian descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1692. en:described in individuals of roma gypsy origin (founder mutation) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in individuals of roma gypsy origin (founder mutation) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1693. en:described in one 5-generation pakistani family (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in one 5-generation pakistani family (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1694. en:described in single afrikaner family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described in single afrikaner family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1695. en:described predominantly in families from the philippines --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:described predominantly in families from the philippines | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1696. en:despite voluminous steatorrhea, patients' growth and overall state of health is good --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1697. en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1698. en:detected in 1/50,000 in neonatal screening programs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:detected in 1/50,000 in neonatal screening programs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1699. en:development of afebrile seizures later in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:development of afebrile seizures later in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1700. en:diabetes and anemia respond to high doses of thiamine supplementation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diabetes and anemia respond to high doses of thiamine supplementation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1701. en:diabetes diagnosed in second or third decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diabetes diagnosed in second or third decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1702. en:diabetes mellitus develops in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diabetes mellitus develops in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1703. en:diabetes mellitus diagnosed between third and fifth decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diabetes mellitus diagnosed between third and fifth decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1704. en:diabetes status:prid:pt:^patient:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diabetes status:prid:pt:^patient:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1705. en:diagnosed in second or third decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosed in second or third decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1706. en:diagnosis in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1707. en:diagnosis in seventh decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis in seventh decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1708. en:diagnosis in the second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis in the second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1709. en:diagnosis made if 3/7 defects are present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis made if 3/7 defects are present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1710. en:diagnosis occurs between 23 and 33 weeks' gestation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis occurs between 23 and 33 weeks' gestation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1711. en:diagnosis rarely made before the fourth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis rarely made before the fourth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1712. en:diagnosis typically between age 10-20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diagnosis typically between age 10-20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1713. en:diarrhea persists even with vigorous nursing --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diarrhea persists even with vigorous nursing | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1714. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1715. en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1716. en:die at birth or shortly after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:die at birth or shortly after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1717. en:difficulty walking --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:difficulty walking | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1718. en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1719. en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1720. en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1721. en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1722. en:dip is a pathologic diagnosis that may represent other disease entities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dip is a pathologic diagnosis that may represent other disease entities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1723. en:disability by end of first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disability by end of first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1724. en:disease complicated by recurrent sepsis in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease complicated by recurrent sepsis in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1725. en:disease course depends on age at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease course depends on age at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1726. en:disease exacerbation during summer due to heat --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease exacerbation during summer due to heat | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1727. en:disease is life-threatening if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease is life-threatening if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1728. en:disease is nonprogressive in most patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease is nonprogressive in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1729. en:disease steadily progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease steadily progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1730. en:disease usually progresses in a cephalocaudal direction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disease usually progresses in a cephalocaudal direction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1731. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1732. en:disorder becomes apparent around age 2 years when patients begin to walk --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disorder becomes apparent around age 2 years when patients begin to walk | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1733. en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1734. en:disorder may progress to involve a larger body area --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disorder may progress to involve a larger body area | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1735. en:disorder usually remains stable over time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disorder usually remains stable over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1736. en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1737. en:disproportionately short limbs often noted at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:disproportionately short limbs often noted at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1738. en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1739. en:distinct disorder from autosomal dominant hyper ige syndrome (147060) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1740. en:distinct disorder from familial erythrocytosis (ecyt1, 133100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1741. en:distinct disorder from familial limb-girdle myasthenia (254200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from familial limb-girdle myasthenia (254200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1742. en:distinct disorder from galactosemia (230400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from galactosemia (230400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1743. en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1744. en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1745. en:distinct disorder from myasthenia gravis (mg, 254200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from myasthenia gravis (mg, 254200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1746. en:distinct disorder from parkinson disease (168600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from parkinson disease (168600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1747. en:distinct disorder from reduced zinc in breast milk (608118) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from reduced zinc in breast milk (608118) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1748. en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1749. en:distinct from pili annulati (180600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinct from pili annulati (180600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1750. en:distinctive and stereotyped sequence of events --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinctive and stereotyped sequence of events | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1751. en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1752. en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1753. en:distribution of lesions may be generalized, palmoplantar, or acral --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:distribution of lesions may be generalized, palmoplantar, or acral | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1754. en:diurnal fluctuation of symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diurnal fluctuation of symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1755. en:diurnal fluctuation, more apparent in earlier years, later subsides --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:diurnal fluctuation, more apparent in earlier years, later subsides | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1756. en:does not lead to hepatic failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:does not lead to hepatic failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1757. en:does not result in renal failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:does not result in renal failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1758. en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1759. en:dopa-responsive rigidity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dopa-responsive rigidity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1760. en:dopa-unresponsive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dopa-unresponsive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1761. en:dramatic improvement with proper treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dramatic improvement with proper treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1762. en:dramatic late catch-up growth occurs in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dramatic late catch-up growth occurs in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1763. en:dryness and impaired vision in older adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dryness and impaired vision in older adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1764. en:duane anomaly is not always present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:duane anomaly is not always present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1765. en:due to lack of epidermal ridging, patients lack fingerprints --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:due to lack of epidermal ridging, patients lack fingerprints | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1766. en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1767. en:dysarthria, dysphonia, or cough precede onset of ataxia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysarthria, dysphonia, or cough precede onset of ataxia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1768. en:dyskinesia may be precipitated by alcohol, stress, or fatigue --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1769. en:dyskinesia may occur in homozygotes (1 reported case) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dyskinesia may occur in homozygotes (1 reported case) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1770. en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1771. en:dysmorphic facial features are subtle --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic facial features are subtle | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1772. en:dysmorphic facial features are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic facial features are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1773. en:dysmorphic facial features may not be present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic facial features may not be present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1774. en:dysmorphic facial features reported in 1 family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic facial features reported in 1 family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1775. en:dysmorphic features are mild or variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic features are mild or variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1776. en:dysmorphic features are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic features are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1777. en:dysmorphic features may be subtle --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic features may be subtle | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1778. en:dysmorphic features were only reported in 1 patient --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dysmorphic features were only reported in 1 patient | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1779. en:dystonia and seizures may persist after resolution of episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dystonia and seizures may persist after resolution of episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1780. en:dystonia is usually focal or segmental --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dystonia is usually focal or segmental | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1781. en:dystonia occurs later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:dystonia occurs later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1782. en:earlier onset associated with faster progression and shorter life span --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earlier onset associated with faster progression and shorter life span | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1783. en:earlier onset associated with increased severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earlier onset associated with increased severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1784. en:earlier onset is associated with more aggressive disease course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earlier onset is associated with more aggressive disease course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1785. en:earlier onset is rare --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earlier onset is rare | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1786. en:earlier onset may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earlier onset may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1787. en:earliest age of onset 12 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earliest age of onset 12 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1788. en:earliest symptom onset in sixth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:earliest symptom onset in sixth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1789. en:early age of onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early age of onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1790. en:early age of onset (approximately 45 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early age of onset (approximately 45 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1791. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1792. en:early age of onset, usually less than 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early age of onset, usually less than 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1793. en:early childhood lethality may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early childhood lethality may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1794. en:early childhood onset (before age 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early childhood onset (before age 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1795. en:early death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1796. en:early death (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1797. en:early death (mean age 13 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death (mean age 13 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1798. en:early death due to infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death due to infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1799. en:early death from infection may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death from infection may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1800. en:early death from respiratory failure may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death from respiratory failure may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1801. en:early death in early adulthood often associated with diverticulitis and intestinal perforation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1802. en:early death in patients with cloverleaf skull --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death in patients with cloverleaf skull | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1803. en:early death in some patients due to cardiorespiratory involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death in some patients due to cardiorespiratory involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1804. en:early death in the first few weeks of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death in the first few weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1805. en:early death may occur due to infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death may occur due to infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1806. en:early death may occur from cardiogenic shock preceded by arrhythmia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death may occur from cardiogenic shock preceded by arrhythmia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1807. en:early death may occur without bone marrow transplant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death may occur without bone marrow transplant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1808. en:early death often due to respiratory complications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death often due to respiratory complications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1809. en:early death often occurs from cardiac failure or infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death often occurs from cardiac failure or infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1810. en:early death without bone marrow transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death without bone marrow transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1811. en:early death without kidney transplant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death without kidney transplant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1812. en:early death, usually before age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early death, usually before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1813. en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1814. en:early diagnosis and treatment prevent many complications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early diagnosis and treatment prevent many complications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1815. en:early exhaustion on exertion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early exhaustion on exertion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1816. en:early lethality --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early lethality | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1817. en:early lethality in most cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early lethality in most cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1818. en:early onset (1 month to 4 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset (1 month to 4 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1819. en:early onset (average 1 year) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset (average 1 year) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1820. en:early onset has rarely been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset has rarely been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1821. en:early onset in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1822. en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1823. en:early onset of symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset of symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1824. en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1825. en:early onset, between 35-60 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early onset, between 35-60 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1826. en:early treatment can reduce neurologic symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early treatment can reduce neurologic symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1827. en:early-onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early-onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1828. en:early-onset associated with more severe course and early death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early-onset associated with more severe course and early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1829. en:early-onset severe renal disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:early-onset severe renal disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1830. en:echocardiogram and ophthalmologic examination normal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:echocardiogram and ophthalmologic examination normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1831. en:eight patients from 2 unrelated families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1832. en:eight unrelated patients have been reported (as of september 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:eight unrelated patients have been reported (as of september 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1833. en:electrolyte imbalances can mimic renal bartter syndrome (601678) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1834. en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1835. en:electroretinogram reduction as early as 4 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:electroretinogram reduction as early as 4 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1836. en:elevated afp can be seen in other disorders --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:elevated afp can be seen in other disorders | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1837. en:empiric risk for a sib of an affected child between 2 and 5% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:empiric risk for a sib of an affected child between 2 and 5% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1838. en:encephalopathic episodes associated with increased serum and csf lactate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:encephalopathic episodes associated with increased serum and csf lactate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1839. en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1840. en:end-stage renal failure in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:end-stage renal failure in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1841. en:end-stage renal failure in first or second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:end-stage renal failure in first or second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1842. en:endocrine abnormalities confined to kidney --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:endocrine abnormalities confined to kidney | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1843. en:endocrine and neurologic defects may become apparent later in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:endocrine and neurologic defects may become apparent later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1844. en:endocrine defects evolve over time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:endocrine defects evolve over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1845. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1846. en:enterocolitis tends to remit with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:enterocolitis tends to remit with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1847. en:environmental triggers - cold and wet exposure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:environmental triggers - cold and wet exposure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1848. en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1849. en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1850. en:epilepsy with grand mal seizures on awakening (egma, 607628) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:epilepsy with grand mal seizures on awakening (egma, 607628) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1851. en:epiphyseal stippling is gone by 8 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:epiphyseal stippling is gone by 8 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1852. en:episode, syncopal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episode, syncopal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1853. en:episodes are followed by exhaustion and sleep --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes are followed by exhaustion and sleep | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1854. en:episodes are triggered by cold exposure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes are triggered by cold exposure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1855. en:episodes are triggered by fatigue, illness, or strenuous exercise --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes are triggered by fatigue, illness, or strenuous exercise | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1856. en:episodes are triggered by hunger, fatigue, cold, stress --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes are triggered by hunger, fatigue, cold, stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1857. en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1858. en:episodes brought on by fasting or infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes brought on by fasting or infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1859. en:episodes last 1 to 2 days --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes last 1 to 2 days | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1860. en:episodes last 2 days to 1 week --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes last 2 days to 1 week | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1861. en:episodes last about 1.5 hours --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes last about 1.5 hours | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1862. en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1863. en:episodes not triggered by alcohol, caffeine, or stress --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes not triggered by alcohol, caffeine, or stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1864. en:episodes of fatigue or weakness (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes of fatigue or weakness (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1865. en:episodes tend to decrease with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes tend to decrease with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1866. en:episodes triggered by fasting, illness, fever --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes triggered by fasting, illness, fever | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1867. en:episodes typically last 2 to 5 minutes and occur daily or several times per month --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1868. en:episodes usually last 1 to 2 days --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodes usually last 1 to 2 days | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1869. en:episodic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1870. en:episodic decompensation is usually triggered by illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodic decompensation is usually triggered by illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1871. en:episodic metabolic decompensation usually associated with illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:episodic metabolic decompensation usually associated with illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1872. en:erythema accompanied by stinging or burning sensation in some cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:erythema accompanied by stinging or burning sensation in some cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1873. en:erythema often triggered by sudden temperature change or emotional stress --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:erythema often triggered by sudden temperature change or emotional stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1874. en:estimated carrier frequency 1/100 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated carrier frequency 1/100 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1875. en:estimated carrier frequency in charlevoix-saguenay region is 1/22 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1876. en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1877. en:estimated frequency 1.6 cases/10,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated frequency 1.6 cases/10,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1878. en:estimated frequency of 1 in 40,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated frequency of 1 in 40,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1879. en:estimated gene carrier frequency of 1 in 5,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated gene carrier frequency of 1 in 5,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1880. en:estimated incidence 1/20,000 - 1/40,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated incidence 1/20,000 - 1/40,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1881. en:estimated incidence of 1 in 17,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated incidence of 1 in 17,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1882. en:estimated mutation carrier rate of 1 in 350 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated mutation carrier rate of 1 in 350 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1883. en:estimated population frequency of 1 in 13,000-20,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated population frequency of 1 in 13,000-20,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1884. en:estimated prevalence of 1 in 16,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated prevalence of 1 in 16,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1885. en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1886. en:evidence of incomplete penetrance in one family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:evidence of incomplete penetrance in one family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1887. en:evidence of prenatal fractures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:evidence of prenatal fractures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1888. en:evidence of systemic iron overload seen in 1 family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:evidence of systemic iron overload seen in 1 family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1889. en:exacerbation at puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exacerbation at puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1890. en:exacerbation during febrile episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exacerbation during febrile episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1891. en:exacerbation following stress, decreased food intake, or alcohol use --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exacerbation following stress, decreased food intake, or alcohol use | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1892. en:exacerbation of symptoms during or after pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exacerbation of symptoms during or after pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1893. en:exacerbation or regression during viral infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exacerbation or regression during viral infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1894. en:exacerbations during infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exacerbations during infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1895. en:excessive posttraumatic blood loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:excessive posttraumatic blood loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1896. en:exercise intolerance often evident in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exercise intolerance often evident in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1897. en:existence as a distinct entity is not confirmed --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:existence as a distinct entity is not confirmed | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1898. en:exon 7 of smn1 is absent in 95.6% of sma1 patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1899. en:expression more severe in females than males, except for mosaic males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:expression more severe in females than males, except for mosaic males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1900. en:extracutaneous manifestations are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:extracutaneous manifestations are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1901. en:extreme clinical heterogeneity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:extreme clinical heterogeneity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1902. en:extreme phenotypic variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:extreme phenotypic variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1903. en:extreme sensitivity to chemotherapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:extreme sensitivity to chemotherapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1904. en:extreme variability in severity of features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:extreme variability in severity of features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1905. en:extremely variable phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:extremely variable phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1906. en:eye and vestibular findings were found in some members of one family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:eye and vestibular findings were found in some members of one family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1907. en:f syndrome (102510) has many overlapping features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:f syndrome (102510) has many overlapping features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1908. en:facial appearance becomes more apparent with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:facial appearance becomes more apparent with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1909. en:facial dysmorphic features may not be present and may become less apparent in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:facial dysmorphic features may not be present and may become less apparent in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1910. en:facial dysmorphism is age-related and alters substantially over time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:facial dysmorphism is age-related and alters substantially over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1911. en:familial (10%) and isolated cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial (10%) and isolated cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1912. en:familial cases are rare and show incomplete penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial cases are rare and show incomplete penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1913. en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1914. en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1915. en:familial form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1916. en:familial form - constitutional deficiency of vwf-cleaving protease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial form - constitutional deficiency of vwf-cleaving protease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1917. en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1918. en:families a and b had a more severe phenotype resulting in death in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:families a and b had a more severe phenotype resulting in death in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1919. en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1920. en:family b had a milder phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:family b had a milder phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1921. en:family c had a milder phenotype with survival into adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:family c had a milder phenotype with survival into adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1922. en:family history of sudden death, as early as fourth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:family history of sudden death, as early as fourth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1923. en:fasting status:prthr:pt:^patient:ord:reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fasting status:prthr:pt:^patient:ord:reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1924. en:fat pads become less prominent with time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fat pads become less prominent with time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1925. en:fatal if renal transplant is not performed --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal if renal transplant is not performed | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1926. en:fatal in first few months of life in most cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal in first few months of life in most cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1927. en:fatal in the neonatal period (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal in the neonatal period (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1928. en:fatal multiorgan failure due to severe inflammatory response in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal multiorgan failure due to severe inflammatory response in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1929. en:fatal outcome if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal outcome if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1930. en:fatal without bone marrow transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal without bone marrow transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1931. en:fatal without hematopoietic stem cell transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal without hematopoietic stem cell transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1932. en:fatal without lung transplant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatal without lung transplant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1933. en:fatigue --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fatigue | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1934. en:favorable initial response to l-dopa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable initial response to l-dopa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1935. en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1936. en:favorable response of episodic attacks to acetazolamide --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response of episodic attacks to acetazolamide | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1937. en:favorable response of seizures to a ketogenic diet --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response of seizures to a ketogenic diet | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1938. en:favorable response to a ketogenic diet --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to a ketogenic diet | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1939. en:favorable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to acetylcholinesterase inhibitors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1940. en:favorable response to alcohol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to alcohol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1941. en:favorable response to alcohol in about 50% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to alcohol in about 50% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1942. en:favorable response to antibodies against tnf-alpha (tnfa, 191160) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1943. en:favorable response to anticholinesterase medication --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to anticholinesterase medication | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1944. en:favorable response to anticonvulsants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to anticonvulsants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1945. en:favorable response to antiepileptic medication --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to antiepileptic medication | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1946. en:favorable response to bh4 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to bh4 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1947. en:favorable response to bh4 therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to bh4 therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1948. en:favorable response to cholinesterase inhibitors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to cholinesterase inhibitors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1949. en:favorable response to clonazepam --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to clonazepam | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1950. en:favorable response to corticosteroid treatment (1 family) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to corticosteroid treatment (1 family) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1951. en:favorable response to flunarizine --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to flunarizine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1952. en:favorable response to high-dose steroids --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to high-dose steroids | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1953. en:favorable response to hydroxychloroquine treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to hydroxychloroquine treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1954. en:favorable response to immunotherapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to immunotherapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1955. en:favorable response to intermittent, low-dose steroid therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to intermittent, low-dose steroid therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1956. en:favorable response to l-dopa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to l-dopa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1957. en:favorable response to l-dopa treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to l-dopa treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1958. en:favorable response to l-dopa without side effects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to l-dopa without side effects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1959. en:favorable response to lenalidomide treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to lenalidomide treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1960. en:favorable response to oral bile acid therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to oral bile acid therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1961. en:favorable response to oral creatine treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to oral creatine treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1962. en:favorable response to rituxan (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to rituxan (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1963. en:favorable response to sodium chloride treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to sodium chloride treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1964. en:favorable response to spironolactone --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to spironolactone | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1965. en:favorable response to treatment with cholinesterase inhibitors or amifampridine --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1966. en:favorable response to treatment with coenzyme q10 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to treatment with coenzyme q10 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1967. en:favorable response to treatment with minocycline or azithromycin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to treatment with minocycline or azithromycin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1968. en:favorable response to treatment with riboflavin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to treatment with riboflavin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1969. en:favorable response to ursodeoxycholic acid treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favorable response to ursodeoxycholic acid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1970. en:favoring of fat and protein --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:favoring of fat and protein | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1971. en:features are highly variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features are highly variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1972. en:features are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1973. en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1974. en:features in addition to mental retardation are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features in addition to mental retardation are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1975. en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1976. en:features intermediate between demyelinating cmt and axonal cmt --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features intermediate between demyelinating cmt and axonal cmt | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1977. en:features may be bilateral (15/24) or left side (9/24) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features may be bilateral (15/24) or left side (9/24) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1978. en:features occur episodically --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features occur episodically | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1979. en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1980. en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1981. en:features usually appear during adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:features usually appear during adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1982. en:febrile attacks disappear in adulthood in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:febrile attacks disappear in adulthood in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1983. en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1984. en:febrile seizures remit by age 5 or 6 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:febrile seizures remit by age 5 or 6 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1985. en:febrile seizures show onset between 6 months and 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:febrile seizures show onset between 6 months and 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1986. en:feeding difficulties in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:feeding difficulties in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1987. en:feeding difficulties, including aspiration, ameliorate with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:feeding difficulties, including aspiration, ameliorate with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1988. en:feet are unaffected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:feet are unaffected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1989. en:feet are unaffected in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:feet are unaffected in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1990. en:female carriers are unaffected or show neuropsychiatric features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers are unaffected or show neuropsychiatric features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1991. en:female carriers exhibit short stature --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers exhibit short stature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1992. en:female carriers experience significant clinical manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers experience significant clinical manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1993. en:female carriers may be less severely affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may be less severely affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1994. en:female carriers may develop mild hearing loss as adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may develop mild hearing loss as adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1995. en:female carriers may have asymptomatic proteinuria or hypercalciuria --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have asymptomatic proteinuria or hypercalciuria | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1996. en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1997. en:female carriers may have cardiac defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have cardiac defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1998. en:female carriers may have hearing loss and/or subclinical peripheral neuropathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  1999. en:female carriers may have mild hearing impairment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have mild hearing impairment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2000. en:female carriers may have mild hearing impairment and/or mild signs of choroideremia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2001. en:female carriers may have mild mental retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have mild mental retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2002. en:female carriers may have short stature and premature ovarian failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have short stature and premature ovarian failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2003. en:female carriers may have subtle manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may have subtle manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2004. en:female carriers may show mild learning disabilities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may show mild learning disabilities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2005. en:female carriers may show some manifestations, such as hearing impairment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female carriers may show some manifestations, such as hearing impairment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2006. en:female mutation carriers are less severely affected than male mutation carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female mutation carriers are less severely affected than male mutation carriers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2007. en:female mutation carriers have earlier age at onset compared to male mutation carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female mutation carriers have earlier age at onset compared to male mutation carriers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2008. en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2009. en:female predominance (4:1) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female predominance (4:1) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2010. en:female preponderance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female preponderance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2011. en:female to male ratio 5:1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female to male ratio 5:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2012. en:female to male ratio 8-13:1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female to male ratio 8-13:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2013. en:female to male ratio ranges from 2:1 to 4:1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female to male ratio ranges from 2:1 to 4:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2014. en:female to male ratio, 1:1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:female to male ratio, 1:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2015. en:females are more often affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females are more often affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2016. en:females are most often affected, but rare male cases have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females are most often affected, but rare male cases have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2017. en:females carriers have more variable age at onset and severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females carriers have more variable age at onset and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2018. en:females demonstrate lyonization with corresponding phenotypic variation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females demonstrate lyonization with corresponding phenotypic variation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2019. en:females have milder manifestations than males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females have milder manifestations than males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2020. en:females may be unaffected or mildly affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females may be unaffected or mildly affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2021. en:females more severely affected than males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females more severely affected than males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2022. en:females tend to have earlier onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:females tend to have earlier onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2023. en:fetal death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fetal death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2024. en:fetal death may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fetal death may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2025. en:fetal death usually occurs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fetal death usually occurs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2026. en:fever of unknown origin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fever of unknown origin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2027. en:fever, muscle cramping, and poor feeding remit by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fever, muscle cramping, and poor feeding remit by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2028. en:few patients with mild to moderate mental retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:few patients with mild to moderate mental retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2029. en:fifty percent of cases are sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fifty percent of cases are sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2030. en:fifty percent of cases secondary to new mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fifty percent of cases secondary to new mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2031. en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2032. en:figure associated with report or note:-:point in time:^patient:- --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:figure associated with report or note:-:point in time:^patient:- | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2033. en:findings in muscle biopsy may be variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:findings in muscle biopsy may be variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2034. en:first described in acadian population of louisiana --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:first described in acadian population of louisiana | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2035. en:first described in gypsy group from bulgaria --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:first described in gypsy group from bulgaria | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2036. en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2037. en:first identified in individuals of cypriot origin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:first identified in individuals of cypriot origin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2038. en:first name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:first name:pn:pt:^guardian or legally authorized representative:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2039. en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2040. en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2041. en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2042. en:five clinical variants of msud unassociated with genotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five clinical variants of msud unassociated with genotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2043. en:five patients from 3 unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five patients from 3 unrelated families have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2044. en:five patients have been reported (as of 8/2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five patients have been reported (as of 8/2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2045. en:five patients have been reported (as of april 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five patients have been reported (as of april 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2046. en:five patients have been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five patients have been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2047. en:five patients reported (as of march 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five patients reported (as of march 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2048. en:five reported patients, all boys (as of july 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five reported patients, all boys (as of july 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2049. en:five unrelated cases have been reported (as of march 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five unrelated cases have been reported (as of march 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2050. en:five unrelated patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five unrelated patients have been reported (as of december 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2051. en:five unrelated patients have been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five unrelated patients have been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2052. en:five unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five unrelated patients have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2053. en:five unrelated patients have been reported (nov. 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:five unrelated patients have been reported (nov. 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2054. en:flares triggered by viral infection, overexertion, stress --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:flares triggered by viral infection, overexertion, stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2055. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2056. en:flunarizine treatment may be beneficial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:flunarizine treatment may be beneficial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2057. en:fluoxetine therapy may be effective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fluoxetine therapy may be effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2058. en:focal or segmental onset in cranial-cervical area or upper limbs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:focal or segmental onset in cranial-cervical area or upper limbs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2059. en:following fever in infancy, muscular weakness and poor growth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:following fever in infancy, muscular weakness and poor growth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2060. en:food intolerance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:food intolerance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2061. en:food related behavioral problems include excessive appetite and obsession with eating --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:food related behavioral problems include excessive appetite and obsession with eating | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2062. en:foot dragging may appear in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:foot dragging may appear in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2063. en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2064. en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2065. en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2066. en:for similar autosomal dominant form, see 162350 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:for similar autosomal dominant form, see 162350 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2067. en:for similar autosomal recessive form, see cln4 (204300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:for similar autosomal recessive form, see cln4 (204300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2068. en:forty percent of patients die in the first year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:forty percent of patients die in the first year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2069. en:found predominantly in the amish population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:found predominantly in the amish population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2070. en:founder effect in irish traveler population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:founder effect in irish traveler population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2071. en:founder effect in turkish families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:founder effect in turkish families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2072. en:four cases have been reported, all female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four cases have been reported, all female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2073. en:four clinical forms of krabbe disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four clinical forms of krabbe disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2074. en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2075. en:four clinically indistinguishable biochemically distinct forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four clinically indistinguishable biochemically distinct forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2076. en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2077. en:four families have been reported (last curated june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four families have been reported (last curated june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2078. en:four families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four families have been reported (last curated october 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2079. en:four individual patients and 1 saudi family have been reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four individual patients and 1 saudi family have been reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2080. en:four major groups: early infantile, late infantile, juvenile, adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four major groups: early infantile, late infantile, juvenile, adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2081. en:four patients from 2 unrelated families have been reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 2 unrelated families have been reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2082. en:four patients from 3 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 families have been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2083. en:four patients from 3 families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 families have been reported (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2084. en:four patients from 3 families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 families have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2085. en:four patients from 3 families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 families have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2086. en:four patients from 3 families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 families have been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2087. en:four patients from 3 unrelated families have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 unrelated families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2088. en:four patients from 3 unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients from 3 unrelated families have been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2089. en:four patients have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2090. en:four patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients have been reported (as of december 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2091. en:four patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients have been reported (as of july 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2092. en:four patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients have been reported (last curated june 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2093. en:four patients have been reported from pakistan (as of march 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients have been reported from pakistan (as of march 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2094. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2095. en:four patients reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four patients reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2096. en:four sibs from the old order mennonite community has been reported (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2097. en:four types of cgd with basically identical clinical phenotypes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four types of cgd with basically identical clinical phenotypes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2098. en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2099. en:four unrelated boys have been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated boys have been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2100. en:four unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated families have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2101. en:four unrelated families of caucasian european descent have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2102. en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2103. en:four unrelated patients have been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients have been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2104. en:four unrelated patients have been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2105. en:four unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2106. en:four unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2107. en:four unrelated patients have been reported (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients have been reported (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2108. en:four unrelated patients have been reported (last curated october 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients have been reported (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2109. en:four unrelated patients have been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2110. en:four unrelated patients reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2111. en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2112. en:fracture frequency constant through childhood, decreases after puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fracture frequency constant through childhood, decreases after puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2113. en:fracture frequency increases after menopause and in men ages 60-80 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fracture frequency increases after menopause and in men ages 60-80 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2114. en:fractures occur in first few months, then decrease in frequency and then occur with ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2115. en:fractures often heal without deformity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:fractures often heal without deformity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2116. en:frequency 1/100,000 - 1/130,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency 1/100,000 - 1/130,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2117. en:frequency and severity of seizures tends to decrease with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency and severity of seizures tends to decrease with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2118. en:frequency between 1 in 58,000 to 1 in 1,000,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency between 1 in 58,000 to 1 in 1,000,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2119. en:frequency increases with advancing age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency increases with advancing age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2120. en:frequency of attack, monthly - bimonthly --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency of attack, monthly - bimonthly | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2121. en:frequency of attacks may decrease with age or during pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency of attacks may decrease with age or during pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2122. en:frequency of episodes ranges from several per week to several per year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequency of episodes ranges from several per week to several per year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2123. en:frequent falls --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequent falls | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2124. en:frequent neonatal sudden death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequent neonatal sudden death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2125. en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2126. en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2127. en:frequently death in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequently death in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2128. en:frequently fatal within the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequently fatal within the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2129. en:frequently occurs in navajo children, especially in western reservations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frequently occurs in navajo children, especially in western reservations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2130. en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2131. en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2132. en:funduscopy before 2 years of age is unremarkable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:funduscopy before 2 years of age is unremarkable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2133. en:gait abnormality --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gait abnormality | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2134. en:gait difficulties and beginning of cognitive decline in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gait difficulties and beginning of cognitive decline in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2135. en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2136. en:gastrointestinal anomalies are not always present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gastrointestinal anomalies are not always present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2137. en:gei (gene-environment interaction) - association of cardiac events with drug administration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gei (gene-environment interaction) - association of cardiac events with drug administration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2138. en:gender-specific phenotype (homozygous men are fertile) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gender-specific phenotype (homozygous men are fertile) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2139. en:gene frequency in northwest puerto rico 1 in 18 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gene frequency in northwest puerto rico 1 in 18 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2140. en:generalized dystonia in some cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:generalized dystonia in some cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2141. en:generalized fatigue --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:generalized fatigue | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2142. en:generally benign disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:generally benign disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2143. en:generally considered to be a benign disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:generally considered to be a benign disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2144. en:generally mild phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:generally mild phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2145. en:generally static disease course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:generally static disease course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2146. en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2147. en:genetic anticipation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic anticipation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2148. en:genetic anticipation associated with progressive telomere shortening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic anticipation associated with progressive telomere shortening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2149. en:genetic anticipation has been observed --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic anticipation has been observed | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2150. en:genetic anticipation occurs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic anticipation occurs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2151. en:genetic heterogeneity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2152. en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2153. en:genetic heterogeneity (bor2, 610896) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (bor2, 610896) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2154. en:genetic heterogeneity (ccm2 603284, ccm3 603285) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2155. en:genetic heterogeneity (see 125800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 125800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2156. en:genetic heterogeneity (see 145410) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 145410) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2157. en:genetic heterogeneity (see 157640) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 157640) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2158. en:genetic heterogeneity (see 159900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 159900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2159. en:genetic heterogeneity (see 161400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 161400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2160. en:genetic heterogeneity (see 166600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 166600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2161. en:genetic heterogeneity (see 191100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 191100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2162. en:genetic heterogeneity (see 192600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 192600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2163. en:genetic heterogeneity (see 209850) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 209850) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2164. en:genetic heterogeneity (see 213300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 213300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2165. en:genetic heterogeneity (see 214300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 214300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2166. en:genetic heterogeneity (see 259700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 259700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2167. en:genetic heterogeneity (see 266900 for summary) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 266900 for summary) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2168. en:genetic heterogeneity (see 304800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 304800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2169. en:genetic heterogeneity (see 601680) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 601680) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2170. en:genetic heterogeneity (see 604559) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 604559) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2171. en:genetic heterogeneity (see 606215) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 606215) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2172. en:genetic heterogeneity (see 607634) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 607634) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2173. en:genetic heterogeneity (see 608638) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 608638) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2174. en:genetic heterogeneity (see 610168) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 610168) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2175. en:genetic heterogeneity (see 613254) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see 613254) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2176. en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2177. en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2178. en:genetic heterogeneity (see bafme2, 607876) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see bafme2, 607876) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2179. en:genetic heterogeneity (see bfic2, 605751) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see bfic2, 605751) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2180. en:genetic heterogeneity (see bscl1, 608594) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see bscl1, 608594) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2181. en:genetic heterogeneity (see bscl2, 269700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see bscl2, 269700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2182. en:genetic heterogeneity (see cftd1, 255310) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cftd1, 255310) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2183. en:genetic heterogeneity (see cms1a1, 605809) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cms1a1, 605809) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2184. en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2185. en:genetic heterogeneity (see cmt1b 118200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt1b 118200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2186. en:genetic heterogeneity (see cmt2a 118210) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt2a 118210) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2187. en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2188. en:genetic heterogeneity (see cmt2b2, 605589) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt2b2, 605589) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2189. en:genetic heterogeneity (see cmt4a 214400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt4a 214400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2190. en:genetic heterogeneity (see cmt4b1, 601382) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt4b1, 601382) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2191. en:genetic heterogeneity (see cmt4b2, 604563) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmt4b2, 604563) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2192. en:genetic heterogeneity (see cmtdia 606483) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cmtdia 606483) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2193. en:genetic heterogeneity (see cnc2, 605244) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see cnc2, 605244) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2194. en:genetic heterogeneity (see coxpd1, 609060) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see coxpd1, 609060) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2195. en:genetic heterogeneity (see ebn2 121201, ebn3 608217) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2196. en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2197. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2198. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2199. en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2200. en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2201. en:genetic heterogeneity (see enfl1, 600513) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see enfl1, 600513) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2202. en:genetic heterogeneity (see etl2, 608096) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see etl2, 608096) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2203. en:genetic heterogeneity (see feb1 121210) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see feb1 121210) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2204. en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2205. en:genetic heterogeneity (see gefs+, 604233) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see gefs+, 604233) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2206. en:genetic heterogeneity (see hcfp1, 601471) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see hcfp1, 601471) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2207. en:genetic heterogeneity (see hcfp2, 604185) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see hcfp2, 604185) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2208. en:genetic heterogeneity (see hhf1 256450) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see hhf1 256450) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2209. en:genetic heterogeneity (see hht1, 187300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see hht1, 187300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2210. en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2211. en:genetic heterogeneity (see lgmd1a 159000 for overview) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see lgmd1a 159000 for overview) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2212. en:genetic heterogeneity (see lqt1 192500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see lqt1 192500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2213. en:genetic heterogeneity (see mada, 248370) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see mada, 248370) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2214. en:genetic heterogeneity (see madb, 608612) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see madb, 608612) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2215. en:genetic heterogeneity (see mcc2 deficiency 210210) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see mcc2 deficiency 210210) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2216. en:genetic heterogeneity (see npc1, 257220) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see npc1, 257220) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2217. en:genetic heterogeneity (see npc2, 607625) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see npc2, 607625) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2218. en:genetic heterogeneity (see ofc1, 119530) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see ofc1, 119530) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2219. en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2220. en:genetic heterogeneity (see pfic1, 211600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see pfic1, 211600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2221. en:genetic heterogeneity (see pfm1, 168500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see pfm1, 168500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2222. en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2223. en:genetic heterogeneity (see psnp1 601104) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see psnp1 601104) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2224. en:genetic heterogeneity (see psnp2 609454) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see psnp2 609454) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2225. en:genetic heterogeneity (see rieg2, 601499) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see rieg2, 601499) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2226. en:genetic heterogeneity (see rls2, 608831) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see rls2, 608831) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2227. en:genetic heterogeneity (see rmd, 606072) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see rmd, 606072) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2228. en:genetic heterogeneity (see rmd1, 600332) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see rmd1, 600332) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2229. en:genetic heterogeneity (see sca1, 164000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see sca1, 164000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2230. en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2231. en:genetic heterogeneity (see, e.g., 600795, 105550) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., 600795, 105550) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2232. en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2233. en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2234. en:genetic heterogeneity (see, e.g., atfb1, 608583) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., atfb1, 608583) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2235. en:genetic heterogeneity (see, e.g., atfb3, 607554) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., atfb3, 607554) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2236. en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2237. en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2238. en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2239. en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2240. en:genetic heterogeneity (sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (sli2 606712, sli3 607134) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2241. en:genetic heterogeneity (x-linked form 305100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity (x-linked form 305100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2242. en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2243. en:genetic heterogeneity of axonal cmt (see cmt2a 118210) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2244. en:genetic heterogeneity of waardenburg syndrome type 2 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity of waardenburg syndrome type 2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2245. en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2246. en:genetic heterogeneity, see (203300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see (203300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2247. en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2248. en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2249. en:genetic heterogeneity, see apmr1 (203650) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see apmr1 (203650) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2250. en:genetic heterogeneity, see aprm2 (610422) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see aprm2 (610422) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2251. en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2252. en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2253. en:genetic heterogeneity, see cild1 (244400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see cild1 (244400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2254. en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2255. en:genetic heterogeneity, see ekd1 (128200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see ekd1 (128200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2256. en:genetic heterogeneity, see evr1 (133780) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see evr1 (133780) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2257. en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2258. en:genetic heterogeneity, see fhm1 141500 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see fhm1 141500 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2259. en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2260. en:genetic heterogeneity, see lgmd2a (253600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see lgmd2a (253600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2261. en:genetic heterogeneity, see mgr1 (157300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see mgr1 (157300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2262. en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2263. en:genetic heterogeneity, see ppnad1 (610489) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see ppnad1 (610489) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2264. en:genetic heterogeneity, see ppnad2 (610475) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see ppnad2 (610475) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2265. en:genetic heterogeneity, see sca1 (164400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see sca1 (164400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2266. en:genetic heterogeneity, see spg3a (182600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see spg3a (182600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2267. en:genetic heterogeneity, see spg5a (270800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see spg5a (270800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2268. en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2269. en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2270. en:genetic heterogeneity, some patients not linked to fgfr3 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genetic heterogeneity, some patients not linked to fgfr3 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2271. en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2272. en:genomic duplications occur de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:genomic duplications occur de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2273. en:germline and somatic mutations contribute to this disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:germline and somatic mutations contribute to this disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2274. en:germline or somatic mutations may cause the disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:germline or somatic mutations may cause the disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2275. en:gestational age:time:pt:^fetus:qn:amniocentesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gestational age:time:pt:^fetus:qn:amniocentesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2276. en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2277. en:global developmental delay --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:global developmental delay | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2278. en:glucocorticoid deficiency occurs in mid-childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:glucocorticoid deficiency occurs in mid-childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2279. en:gms is goniodysgenesis, mental deficiency, and short stature --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gms is goniodysgenesis, mental deficiency, and short stature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2280. en:gonadal mosaicism may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gonadal mosaicism may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2281. en:gonadal mosaicism reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gonadal mosaicism reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2282. en:good response to clonazepam --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to clonazepam | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2283. en:good response to fibrinolytic inhibitors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to fibrinolytic inhibitors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2284. en:good response to gaba-enhancing medications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to gaba-enhancing medications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2285. en:good response to immunotherapy (intravenous igg or plasmapheresis) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to immunotherapy (intravenous igg or plasmapheresis) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2286. en:good response to l-dopa initially --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to l-dopa initially | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2287. en:good response to levodopa treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to levodopa treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2288. en:good response to medication --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to medication | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2289. en:good response to phosphate treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to phosphate treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2290. en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2291. en:good response to vitamin d treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good response to vitamin d treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2292. en:good seizure control with medication --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:good seizure control with medication | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2293. en:gradual progression of hearing loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gradual progression of hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2294. en:gradual spontaneous improvement in the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gradual spontaneous improvement in the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2295. en:greater expression in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:greater expression in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2296. en:green color resolves if cholestasis is treated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:green color resolves if cholestasis is treated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2297. en:green jaundice occurs only in the context of liver failure or obstructive cholestasis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2298. en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2299. en:group a patients die in the first years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:group a patients die in the first years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2300. en:group a, found in north american indians, has lactic acidosis and psychomotor retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2301. en:group b patients die by 3 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:group b patients die by 3 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2302. en:group b, found in france and united kingdom, severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:group b, found in france and united kingdom, severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2303. en:group c is relatively benign --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:group c is relatively benign | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2304. en:growth retardation onset in utero --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:growth retardation onset in utero | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2305. en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2306. en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2307. en:hair loss begins in first years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hair loss begins in first years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2308. en:hair may normalize at puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hair may normalize at puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2309. en:hair phenotype present at birth and involves entire scalp region --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hair phenotype present at birth and involves entire scalp region | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2310. en:hair tends to straighten by 2nd-3rd decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hair tends to straighten by 2nd-3rd decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2311. en:hair, nails, and teeth are normal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hair, nails, and teeth are normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2312. en:hairy elbows become apparent in infancy and regress during adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hairy elbows become apparent in infancy and regress during adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2313. en:half (50%) of affected patients have a recurrent episode with worse outcome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:half (50%) of affected patients have a recurrent episode with worse outcome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2314. en:half of cases show retarded head circumference equal to height retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:half of cases show retarded head circumference equal to height retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2315. en:hand involvement improves with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hand involvement improves with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2316. en:haploinsufficiency of grn (138945) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:haploinsufficiency of grn (138945) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2317. en:haploinsufficiency of rps14 (130620) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:haploinsufficiency of rps14 (130620) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2318. en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2319. en:has been described in patients of caucasus jewish origin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:has been described in patients of caucasus jewish origin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2320. en:headache duration 4-72 hours --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:headache duration 4-72 hours | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2321. en:headaches last hours to days --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:headaches last hours to days | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2322. en:health data repository:id:pt:repository:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:health data repository:id:pt:repository:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2323. en:health insurance plan benefits comment:finding:point in time:^patient:narrative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2324. en:hearing impairment may improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing impairment may improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2325. en:hearing loss affects all frequencies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss affects all frequencies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2326. en:hearing loss and hoarseness occur later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss and hoarseness occur later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2327. en:hearing loss and ocular findings are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss and ocular findings are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2328. en:hearing loss is congenital and nonprogressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss is congenital and nonprogressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2329. en:hearing loss is nonprogressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss is nonprogressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2330. en:hearing loss is pre- or perilingual in onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss is pre- or perilingual in onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2331. en:hearing loss is progressive and initially affects high-frequencies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss is progressive and initially affects high-frequencies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2332. en:hearing loss is usually severe by age 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss is usually severe by age 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2333. en:hearing loss is variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss is variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2334. en:hearing loss ma be fluctuating or progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss ma be fluctuating or progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2335. en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2336. en:hearing loss may be stable or progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss may be stable or progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2337. en:hearing loss may vary in severity and range between ears --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss may vary in severity and range between ears | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2338. en:hearing loss progresses to profound deafness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss progresses to profound deafness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2339. en:hearing loss typically begins between 3 and 4 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss typically begins between 3 and 4 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2340. en:hearing loss was diagnosed between 3 months to 1 year of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss was diagnosed between 3 months to 1 year of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2341. en:hearing loss was progressive in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hearing loss was progressive in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2342. en:hematuria may become apparent after respiratory infections (synpharyngitic) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hematuria may become apparent after respiratory infections (synpharyngitic) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2343. en:hemolysis may be exercise-induced --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hemolysis may be exercise-induced | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2344. en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2345. en:hernia occurs in 22% of adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hernia occurs in 22% of adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2346. en:heterogeneous disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterogeneous disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2347. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2348. en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2349. en:heterozygotes are usually asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes are usually asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2350. en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2351. en:heterozygotes exhibit blue sclerae and soft velvety skin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes exhibit blue sclerae and soft velvety skin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2352. en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2353. en:heterozygotes have half-normal levels of apob-containing lipoproteins --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes have half-normal levels of apob-containing lipoproteins | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2354. en:heterozygotes have mild, transient hypothyroidism in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes have mild, transient hypothyroidism in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2355. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2356. en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2357. en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2358. en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2359. en:heterozygotes may exhibit syndromic manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygotes may exhibit syndromic manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2360. en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2361. en:heterozygous carriers have an increased risk of metabolic dysfunction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous carriers have an increased risk of metabolic dysfunction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2362. en:heterozygous carriers have decreased blood pressure compared to the general population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous carriers have decreased blood pressure compared to the general population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2363. en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2364. en:heterozygous female carriers may manifest symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous female carriers may manifest symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2365. en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2366. en:heterozygous females may have gout and/or sensorineural deafness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous females may have gout and/or sensorineural deafness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2367. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2368. en:heterozygous mutation carriers may have late-onset cardiac arrhythmias --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2369. en:heterozygous mutation carriers may show mild symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous mutation carriers may show mild symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2370. en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2371. en:heterozygous mutation present in 5-7% of the japanese population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous mutation present in 5-7% of the japanese population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2372. en:heterozygous mutations reported, see 606609.0006 and 606609.0007 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2373. en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2374. en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2375. en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2376. en:hhs is a more severe variant, often resulting in death in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hhs is a more severe variant, often resulting in death in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2377. en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2378. en:high disease prevalence among french-canadians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high disease prevalence among french-canadians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2379. en:high early mortality rate if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high early mortality rate if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2380. en:high frequency among french-canadians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency among french-canadians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2381. en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2382. en:high frequency in equatorial africa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in equatorial africa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2383. en:high frequency in finnish population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in finnish population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2384. en:high frequency in hutterite population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in hutterite population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2385. en:high frequency in japan (2 in 20,000, 0.1%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in japan (2 in 20,000, 0.1%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2386. en:high frequency in northeastern brazil --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in northeastern brazil | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2387. en:high frequency in southern india (7% of all epilepsies) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in southern india (7% of all epilepsies) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2388. en:high frequency in the french-canadian population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in the french-canadian population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2389. en:high frequency in tibetan individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency in tibetan individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2390. en:high frequency of de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency of de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2391. en:high frequency seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high frequency seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2392. en:high incidence among ashkenazi jews --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high incidence among ashkenazi jews | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2393. en:high incidence among old order amish --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high incidence among old order amish | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2394. en:high incidence in iraqis and sephardic jewish individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high incidence in iraqis and sephardic jewish individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2395. en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2396. en:high incidence in sweden and finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high incidence in sweden and finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2397. en:high incidence of diabetes mellitus noted in opll patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high incidence of diabetes mellitus noted in opll patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2398. en:high incidence of e. coli sepsis in untreated neonates --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high incidence of e. coli sepsis in untreated neonates | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2399. en:high infant mortality due to malnutrition as well as complications of parenteral nutrition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2400. en:high intrafamilial and interfamilial variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high intrafamilial and interfamilial variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2401. en:high mortality in infancy and early childhood (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high mortality in infancy and early childhood (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2402. en:high occurrence of de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high occurrence of de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2403. en:high pain threshold --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high pain threshold | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2404. en:high prevalence among individuals of middle eastern or african descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high prevalence among individuals of middle eastern or african descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2405. en:high prevalence among individuals of portuguese descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high prevalence among individuals of portuguese descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2406. en:high prevalence in charlevoix-saguenay region of northeastern quebec --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high prevalence in charlevoix-saguenay region of northeastern quebec | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2407. en:high prevalence in holguin province of cuba --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high prevalence in holguin province of cuba | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2408. en:high prevalence in japan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high prevalence in japan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2409. en:high prevalence in the east asian population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high prevalence in the east asian population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2410. en:high risk of death in infancy due to cardiac failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:high risk of death in infancy due to cardiac failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2411. en:highest incidence in men of european descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highest incidence in men of european descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2412. en:highly variable age at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable age at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2413. en:highly variable age at onset (range 9 to 69 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable age at onset (range 9 to 69 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2414. en:highly variable age at onset (range childhood to late adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable age at onset (range childhood to late adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2415. en:highly variable clinical and immunologic phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable clinical and immunologic phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2416. en:highly variable degree of bone fragility, even among patients carrying the same mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable degree of bone fragility, even among patients carrying the same mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2417. en:highly variable dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2418. en:highly variable expressivity within families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable expressivity within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2419. en:highly variable intrafamilial expression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable intrafamilial expression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2420. en:highly variable intrafamilial severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable intrafamilial severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2421. en:highly variable pathologic phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable pathologic phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2422. en:highly variable phenotype and age of onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype and age of onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2423. en:highly variable phenotype and severity, even within families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype and severity, even within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2424. en:highly variable phenotype in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2425. en:highly variable phenotype with regard to pigmentation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype with regard to pigmentation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2426. en:highly variable phenotype, ranging from asymptomatic to death by age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2427. en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2428. en:highly variable severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2429. en:highly variable severity of muscle weakness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:highly variable severity of muscle weakness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2430. en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2431. en:hip replacement in early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hip replacement in early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2432. en:histologic features overlap with henoch-schonlein purpura (hspn) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:histologic features overlap with henoch-schonlein purpura (hspn) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2433. en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2434. en:homo sapiens do not have a functional l-gulonolactone oxidase gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2435. en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2436. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2437. en:homozygotes have earlier onset and a more severe disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:homozygotes have earlier onset and a more severe disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2438. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2439. en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2440. en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2441. en:homozygous patients have earlier-onset and more severe disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:homozygous patients have earlier-onset and more severe disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2442. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2443. en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2444. en:hyperkeratosis triggered by chronic mechanical irritation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperkeratosis triggered by chronic mechanical irritation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2445. en:hyperlipidemia may be partially responsive to fat-restricted diet --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperlipidemia may be partially responsive to fat-restricted diet | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2446. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2447. en:hyperphosphatasia with mental retardation syndrome 6 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperphosphatasia with mental retardation syndrome 6 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2448. en:hyperpigmented patches increased in size and number with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperpigmented patches increased in size and number with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2449. en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2450. en:hypertension is presenting sign --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypertension is presenting sign | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2451. en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2452. en:hypogonadism reported in a large swedish kindred --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypogonadism reported in a large swedish kindred | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2453. en:hyponatremia usually associated with gastroenteritis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hyponatremia usually associated with gastroenteritis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2454. en:hypotonia may respond to treatment with pyridostigmine --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypotonia may respond to treatment with pyridostigmine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2455. en:hypotonia, infantile, with psychomotor retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypotonia, infantile, with psychomotor retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2456. en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2457. en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2458. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2459. en:immunodeficiency is progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:immunodeficiency is progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2460. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2461. en:immunosuppressive therapy may be beneficial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:immunosuppressive therapy may be beneficial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2462. en:impaired healing --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:impaired healing | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2463. en:imprinting at 11p15.5 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:imprinting at 11p15.5 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2464. en:improvement of abnormal muscle biopsy and cox deficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:improvement of abnormal muscle biopsy and cox deficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2465. en:improvement of epimetaphyseal changes with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:improvement of epimetaphyseal changes with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2466. en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2467. en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2468. en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2469. en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2470. en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2471. en:in most cases capillary lesions are multifocal at birth and may increase in number with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2472. en:in some patients, qtc interval is prolonged only during exercise testing --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:in some patients, qtc interval is prolonged only during exercise testing | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2473. en:inborn error of the pyrimidine degradation pathway --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:inborn error of the pyrimidine degradation pathway | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2474. en:incidence - 1 in 25,000-100,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence - 1 in 25,000-100,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2475. en:incidence 1 in 20,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1 in 20,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2476. en:incidence 1 in 300,000 in japan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1 in 300,000 in japan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2477. en:incidence 1 in 50,000-100,000 in western europe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1 in 50,000-100,000 in western europe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2478. en:incidence 1 in 6,000 to 1 in 8,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1 in 6,000 to 1 in 8,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2479. en:incidence 1/1,200-1/15,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1/1,200-1/15,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2480. en:incidence 1/20,000-1/64,000 male births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 1/20,000-1/64,000 male births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2481. en:incidence 2-5% of north american children --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 2-5% of north american children | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2482. en:incidence 5-50 per million (children) and 10-40 per million (adults) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 5-50 per million (children) and 10-40 per million (adults) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2483. en:incidence 7-15% in pacific island populations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence 7-15% in pacific island populations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2484. en:incidence approximately 2-3/10,000 newborns --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence approximately 2-3/10,000 newborns | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2485. en:incidence in finland is 1 in 76,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence in finland is 1 in 76,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2486. en:incidence in japan is 1 in 57,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence in japan is 1 in 57,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2487. en:incidence in the finnish population of 0.2-1.3 cases per million per year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence in the finnish population of 0.2-1.3 cases per million per year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2488. en:incidence in united states of 1 in 55,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence in united states of 1 in 55,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2489. en:incidence is less than 1 in 70,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence is less than 1 in 70,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2490. en:incidence of 0.51 per million in france --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 0.51 per million in france | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2491. en:incidence of 1 in 1,000,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 1,000,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2492. en:incidence of 1 in 10,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 10,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2493. en:incidence of 1 in 100 in some local nordic areas --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 100 in some local nordic areas | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2494. en:incidence of 1 in 100,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 100,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2495. en:incidence of 1 in 100,000 births in caucasians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 100,000 births in caucasians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2496. en:incidence of 1 in 150,000 live births in the general population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 150,000 live births in the general population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2497. en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2498. en:incidence of 1 in 20,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 20,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2499. en:incidence of 1 in 25,000 livebirths --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 25,000 livebirths | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2500. en:incidence of 1 in 25,000 to 1 in 50,000 newborns --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2501. en:incidence of 1 in 250,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2502. en:incidence of 1 in 276,000 in the netherlands --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 276,000 in the netherlands | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2503. en:incidence of 1 in 3,900 births among jewish persons --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 3,900 births among jewish persons | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2504. en:incidence of 1 in 300,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 300,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2505. en:incidence of 1 in 320,000 births among non-jewish persons --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 320,000 births among non-jewish persons | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2506. en:incidence of 1 in 40,000 infants worldwide --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 40,000 infants worldwide | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2507. en:incidence of 1 in 480 among old order amish --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 480 among old order amish | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2508. en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2509. en:incidence of 1 in 5,000-8,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 5,000-8,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2510. en:incidence of 1 in 500,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 500,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2511. en:incidence of 1 in 6,000 males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 6,000 males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2512. en:incidence of 1 per 10,000 births in japan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 per 10,000 births in japan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2513. en:incidence of 1% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1% in yarmouth county, nova scotia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2514. en:incidence of 1/100,000 in italy and finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1/100,000 in italy and finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2515. en:incidence of 1/50,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1/50,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2516. en:incidence of 12.2 per 100,000 in finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 12.2 per 100,000 in finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2517. en:incidence of 4 per million per year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 4 per million per year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2518. en:incidence of all forms of cjd is 0.5 to 1.5 per million per year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2519. en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2520. en:incidence of mh in anesthetized children is 1 in 15,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of mh in anesthetized children is 1 in 15,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2521. en:incidence ranges from 1 in 238,095 to 1 in 300,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2522. en:incidence ranges from 1 in 8,500 to 1 in 12,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2523. en:incidence worldwide of 1 in 30,000 to 50,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence worldwide of 1 in 30,000 to 50,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2524. en:incidence, 1 in 650-1000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence, 1 in 650-1000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2525. en:incomplete age-dependent penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete age-dependent penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2526. en:incomplete penetance of some features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetance of some features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2527. en:incomplete penetrance (about 80%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance (about 80%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2528. en:incomplete penetrance (as low as 30% in some cases) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance (as low as 30% in some cases) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2529. en:incomplete penetrance (range 13% to 77% by 50 years of age) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance (range 13% to 77% by 50 years of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2530. en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2531. en:incomplete penetrance in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2532. en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2533. en:incomplete penetrance of the cardiac phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance of the cardiac phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2534. en:incomplete penetrance, some individuals have only emg changes without other clinical signs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2535. en:incomplete, age-associated penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete, age-associated penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2536. en:incomplete, but high, penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incomplete, but high, penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2537. en:incompletely penetrant phenotype in heterozygotes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incompletely penetrant phenotype in heterozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2538. en:increased abortuses of homozygous or compound heterozygous fetuses --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased abortuses of homozygous or compound heterozygous fetuses | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2539. en:increased bleeding after surgery --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased bleeding after surgery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2540. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2541. en:increased frequency among individuals of ashkenazi jewish descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency among individuals of ashkenazi jewish descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2542. en:increased frequency among individuals of east asian descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency among individuals of east asian descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2543. en:increased frequency among japanese and chinese --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency among japanese and chinese | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2544. en:increased frequency among jewish iranian individuals from isfahan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency among jewish iranian individuals from isfahan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2545. en:increased frequency in ashkenazi jewish population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in ashkenazi jewish population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2546. en:increased frequency in ashkenazi jewish population (1/100 are carriers) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2547. en:increased frequency in ashkenazi jewish population and in finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in ashkenazi jewish population and in finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2548. en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2549. en:increased frequency in eastern pennsylvania amish --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in eastern pennsylvania amish | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2550. en:increased frequency in finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2551. en:increased frequency in finland (incidence 1:60,000 finnish newborns) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2552. en:increased frequency in finland (prevalence of 1 in 20,000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in finland (prevalence of 1 in 20,000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2553. en:increased frequency in individuals of asian descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in individuals of asian descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2554. en:increased frequency in individuals originating from western scotland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in individuals originating from western scotland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2555. en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2556. en:increased frequency in persian jews (1:1,300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in persian jews (1:1,300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2557. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2558. en:increased frequency in the dariusleut hutterites (canada) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in the dariusleut hutterites (canada) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2559. en:increased frequency in the faroe islands (carrier 1 in 25) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in the faroe islands (carrier 1 in 25) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2560. en:increased frequency in the finnish population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in the finnish population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2561. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2562. en:increased frequency in the state of bahia, brazil --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in the state of bahia, brazil | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2563. en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2564. en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2565. en:increased male-to-female ratio (3-4 to 1) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased male-to-female ratio (3-4 to 1) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2566. en:increased morbidity/mortality in affected males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased morbidity/mortality in affected males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2567. en:increased penetrance of phenotype when there is maternal transmission of the mutant allele --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2568. en:increased prevalence among smokers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence among smokers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2569. en:increased prevalence among the finnish --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence among the finnish | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2570. en:increased prevalence among women --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence among women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2571. en:increased prevalence in individuals of jewish-iraqi origin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence in individuals of jewish-iraqi origin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2572. en:increased prevalence in individuals of turkish descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence in individuals of turkish descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2573. en:increased prevalence in northern finland (7.3/100,000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence in northern finland (7.3/100,000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2574. en:increased prevalence in persons of ashkenazi jewish descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence in persons of ashkenazi jewish descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2575. en:increased prevalence in the french-canadian population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased prevalence in the french-canadian population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2576. en:increased rate of miscarriage in affected individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased rate of miscarriage in affected individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2577. en:increased risk of bilateral breast cancer --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of bilateral breast cancer | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2578. en:increased risk of developing early-onset aggressive cancers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of developing early-onset aggressive cancers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2579. en:increased risk of developing multiple primary cancers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of developing multiple primary cancers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2580. en:increased risk of miscarriage --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of miscarriage | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2581. en:increased risk of post-splenectomy thrombotic complications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of post-splenectomy thrombotic complications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2582. en:increased risk of post-splenectomy thrombotic complications (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased risk of post-splenectomy thrombotic complications (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2583. en:increased sensitivity to heat --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased sensitivity to heat | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2584. en:increased spontaneous abortions in carrier mothers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased spontaneous abortions in carrier mothers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2585. en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2586. en:increased susceptibility to infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased susceptibility to infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2587. en:increased susceptibility to malignant hyperthermia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased susceptibility to malignant hyperthermia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2588. en:increased susceptibility to neisseria infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased susceptibility to neisseria infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2589. en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2590. en:increased tendency to chromosomal nondisjunction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increased tendency to chromosomal nondisjunction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2591. en:increasing hypertension with increasing age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:increasing hypertension with increasing age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2592. en:individuals develop ability to stand and walk --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:individuals develop ability to stand and walk | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2593. en:individuals do not develop erythrocytosis under hypoxic conditions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:individuals do not develop erythrocytosis under hypoxic conditions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2594. en:individuals may accumulate more pigment in hair and eyes with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:individuals may accumulate more pigment in hair and eyes with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2595. en:individuals with the pcs trait are phenotypically normal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:individuals with the pcs trait are phenotypically normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2596. en:infant death may occur secondary to sepsis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infant death may occur secondary to sepsis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2597. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2598. en:infantile form usually leads to death by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile form usually leads to death by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2599. en:infantile onset (in 1 patient) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infantile onset (in 1 patient) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2600. en:infants are stillborn or die before age 1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infants are stillborn or die before age 1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2601. en:infants may die from apnea or aspiration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infants may die from apnea or aspiration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2602. en:infants occasionally mistaken as having down syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infants occasionally mistaken as having down syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2603. en:infertility --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:infertility | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2604. en:inheritance may be x-linked dominant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:inheritance may be x-linked dominant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2605. en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2606. en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2607. en:initially normal for first 6-18 months which is then followed by withdrawal and regression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2608. en:initially normal rod responses may become significantly reduced at older age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:initially normal rod responses may become significantly reduced at older age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2609. en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2610. en:intellectual disability is variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intellectual disability is variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2611. en:intelligence is normal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intelligence is normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2612. en:interfamilial and intrafamilial variability in severity of symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:interfamilial and intrafamilial variability in severity of symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2613. en:intermediate levels of factor x in mildly symptomatic heterozygotes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intermediate levels of factor x in mildly symptomatic heterozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2614. en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2615. en:intermittent pyrexia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intermittent pyrexia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2616. en:intolerant of heat --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intolerant of heat | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2617. en:intracellular accumulation of material may not always be apparent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intracellular accumulation of material may not always be apparent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2618. en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2619. en:intrafamilial variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2620. en:intrafamilial variability in degree of hypotrichosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variability in degree of hypotrichosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2621. en:intrafamilial variability in degree of nail involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variability in degree of nail involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2622. en:intrafamilial variability in nail changes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variability in nail changes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2623. en:intrafamilial variability in severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variability in severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2624. en:intrafamilial variability in severity of hypothyroidism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variability in severity of hypothyroidism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2625. en:intrafamilial variation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrafamilial variation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2626. en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2627. en:involuntary and nonvolitional phenomenon --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:involuntary and nonvolitional phenomenon | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2628. en:isolated cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:isolated cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2629. en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2630. en:jbts shows autosomal dominant inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:jbts shows autosomal dominant inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2631. en:joint dislocations become less frequent with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:joint dislocations become less frequent with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2632. en:joint replacement often necessary --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:joint replacement often necessary | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2633. en:juvenile absence epilepsy (jae, 607631) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile absence epilepsy (jae, 607631) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2634. en:juvenile and adult forms are isolated glycerol kinase deficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile and adult forms are isolated glycerol kinase deficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2635. en:juvenile myoclonic epilepsy (jme, 606904) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile myoclonic epilepsy (jme, 606904) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2636. en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2637. en:juvenile-onset (before 15 years of age) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:juvenile-onset (before 15 years of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2638. en:keratitis-ichthyosis-deafness syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:keratitis-ichthyosis-deafness syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2639. en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2640. en:kid syndrome and hid syndrome are identical at the molecular level --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:kid syndrome and hid syndrome are identical at the molecular level | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2641. en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2642. en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2643. en:l-dopa-induced dyskinesias --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:l-dopa-induced dyskinesias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2644. en:laboratory comment:txt:pt:report:nar --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:laboratory comment:txt:pt:report:nar | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2645. en:laboratory director name:pn:pt:provider:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:laboratory director name:pn:pt:provider:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2646. en:laboratory findings are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:laboratory findings are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2647. en:laryngeal edema can result in asphyxiation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:laryngeal edema can result in asphyxiation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2648. en:last name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:last name:pn:pt:^guardian or legally authorized representative:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2649. en:late infantile form has onset between 19 months and 4 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late infantile form has onset between 19 months and 4 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2650. en:late onset combined immunodeficiency with allelic variant 102700.0020 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late onset combined immunodeficiency with allelic variant 102700.0020 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2651. en:late-adult onset (age 50 or later) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late-adult onset (age 50 or later) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2652. en:late-adult onset (range 50 to 80 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late-adult onset (range 50 to 80 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2653. en:late-adult onset (usually after age 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:late-adult onset (usually after age 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2654. en:later childhood onset has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later childhood onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2655. en:later onset associated with milder severity has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset associated with milder severity has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2656. en:later onset has been rarely reported (up to age 68 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset has been rarely reported (up to age 68 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2657. en:later onset has been reported (third or fourth decades) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset has been reported (third or fourth decades) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2658. en:later onset in adolescence has rarely been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset in adolescence has rarely been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2659. en:later onset in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2660. en:later onset is associated with slower progression and lesser severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset is associated with slower progression and lesser severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2661. en:later onset may occur (1 to 11 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset may occur (1 to 11 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2662. en:later onset of hearing loss in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset of hearing loss in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2663. en:later onset of ophthalmoparesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset of ophthalmoparesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2664. en:later onset with a milder phenotype may also occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:later onset with a milder phenotype may also occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2665. en:leakage of fluid ('gusher') if the stapes is disturbed --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:leakage of fluid ('gusher') if the stapes is disturbed | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2666. en:left side involvement associated with serious cardiac defect --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:left side involvement associated with serious cardiac defect | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2667. en:leigh syndrome, x-linked --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:leigh syndrome, x-linked | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2668. en:length of calorie fast:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:length of calorie fast:time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2669. en:length of time post dose:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:length of time post dose:time:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2670. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2671. en:lesions appear in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions appear in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2672. en:lesions are present at birth or become apparent in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions are present at birth or become apparent in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2673. en:lesions grow and spread with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions grow and spread with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2674. en:lesions increase in size and number with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions increase in size and number with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2675. en:lesions may become more prominent with sun exposure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions may become more prominent with sun exposure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2676. en:lesions occur mainly on the pinnae of the ears or on the face --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lesions occur mainly on the pinnae of the ears or on the face | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2677. en:less severe phenotype in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:less severe phenotype in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2678. en:less than 50% penetrance in some families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:less than 50% penetrance in some families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2679. en:lethal in 40% of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lethal in 40% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2680. en:lethal in first weeks of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lethal in first weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2681. en:lethal in the neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lethal in the neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2682. en:lethal in utero or in the perinatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lethal in utero or in the perinatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2683. en:levodopa-responsive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:levodopa-responsive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2684. en:life-threatening in infancy due to sepsis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:life-threatening in infancy due to sepsis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2685. en:lifetime risk of breast cancer in male mutation carriers in 6% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lifetime risk of breast cancer in male mutation carriers in 6% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2686. en:lifetime risk of breast cancer in mutation carriers is 80 to 90% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2687. en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2688. en:likely allelic to sc phocomelia syndrome (269000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:likely allelic to sc phocomelia syndrome (269000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2689. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2690. en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2691. en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2692. en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2693. en:limited clinical information due to surgical removal of lens in affected individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limited clinical information due to surgical removal of lens in affected individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2694. en:limited clinical information provided --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limited clinical information provided | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2695. en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2696. en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2697. en:limited clinical information provided on patients with bbs7 mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:limited clinical information provided on patients with bbs7 mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2698. en:linked to 10q24 trisomy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:linked to 10q24 trisomy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2699. en:lipodystrophic appearance may be mild or not present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lipodystrophic appearance may be mild or not present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2700. en:liver enzymes decrease with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver enzymes decrease with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2701. en:liver failure episodes associated with fever --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver failure episodes associated with fever | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2702. en:liver failure episodes cease in later childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver failure episodes cease in later childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2703. en:liver functions return to normal after 3 to 4 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver functions return to normal after 3 to 4 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2704. en:liver involvement can range from mild to severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:liver involvement can range from mild to severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2705. en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2706. en:long duration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:long duration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2707. en:longer disease duration than creutzfeldt-jakob disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:longer disease duration than creutzfeldt-jakob disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2708. en:loss initially affects mid and high frequencies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss initially affects mid and high frequencies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2709. en:loss of ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss of ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2710. en:loss of ambulation within 10 years of onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss of ambulation within 10 years of onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2711. en:loss of independent ambulation (in 2 of 3 patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss of independent ambulation (in 2 of 3 patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2712. en:loss of independent ambulation due to muscle weakness in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss of independent ambulation due to muscle weakness in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2713. en:loss of independent ambulation in the second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss of independent ambulation in the second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2714. en:loss of independent walking by teenage years (in some) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:loss of independent walking by teenage years (in some) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2715. en:low physical performance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:low physical performance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2716. en:lower limb involvement precedes upper limb involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lower limb involvement precedes upper limb involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2717. en:lower limbs more severely affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lower limbs more severely affected | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:luton and torrance type differentiated based on histologic findings in cartilage | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2719. en:lymphedema occurs in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lymphedema occurs in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2720. en:lymphedema resolves by age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lymphedema resolves by age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2721. en:lymphedema that presents at puberty is called meige disease (153200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lymphedema that presents at puberty is called meige disease (153200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2722. en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:macular degeneration only occurs in some patients at very late age (over 70) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2725. en:major fetal plasma protein produced by yolk sac and liver --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:major fetal plasma protein produced by yolk sac and liver | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2726. en:majority are sporadic cases, affected sibs have been described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority are sporadic cases, affected sibs have been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2727. en:majority cases are sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority cases are sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2728. en:majority of affected individuals are female (85%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of affected individuals are female (85%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2729. en:majority of cases are due to de novo mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases are due to de novo mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2730. en:majority of cases are secondary to de novo mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases are secondary to de novo mutation | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases are sporadic, some autosomal dominant families have been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2732. en:majority of cases from middle eastern countries --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases from middle eastern countries | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2733. en:majority of cases have bilateral involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases have bilateral involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2734. en:majority of cases in japan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases in japan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2735. en:majority of cases in manitoba indians, northeastern manitoba, canada --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases in manitoba indians, northeastern manitoba, canada | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2736. en:majority of cases in the afrikaner population of south africa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases in the afrikaner population of south africa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2737. en:majority of cases occur in brazilian population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of cases occur in brazilian population | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2740. en:majority of individuals are healthy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of individuals are healthy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2741. en:majority of patients are pyridoxine-responsive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of patients are pyridoxine-responsive | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of patients develop symptoms within the first few weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2743. en:majority of patients from italy and southwestern united states --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of patients from italy and southwestern united states | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2744. en:majority of por deficiency patients have an abs-like phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of por deficiency patients have an abs-like phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2745. en:majority of wilms tumors are sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of wilms tumors are sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:majority of wws patients die within the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2747. en:male infertility --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male infertility | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2748. en:male patients have more severe disease than female patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male patients have more severe disease than female patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2749. en:male predominance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male predominance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2750. en:male to female ratio 21:8 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male to female ratio 21:8 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2751. en:male to female ratio 7:1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male to female ratio 7:1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2752. en:male-limited trait --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male-limited trait | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2753. en:male-to-female ratio 3 to 1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male-to-female ratio 3 to 1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2754. en:male-to-female ratio of 3:2 in childhood cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:male-to-female ratio of 3:2 in childhood cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2755. en:males are more commonly affected than females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males are more commonly affected than females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2756. en:males are more severely affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males are more severely affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2757. en:males are more severely affected than females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males are more severely affected than females | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2759. en:males carry mutations in the somatic mosaic state --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males carry mutations in the somatic mosaic state | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2760. en:males died in neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males died in neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2761. en:males more frequently have severe lesions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males more frequently have severe lesions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2762. en:males mores severely affected than females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:males mores severely affected than females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2763. en:malnutrition can be severe, requiring total parenteral nutrition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:malnutrition can be severe, requiring total parenteral nutrition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2764. en:manifestations of cushing syndrome may be mild --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:manifestations of cushing syndrome may be mild | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2765. en:manifestations present in second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:manifestations present in second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2766. en:many become wheelchair bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many become wheelchair bound | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:many cases are sporadic, but somatic and germline mosaicism has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2768. en:many cases due to de novo mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many cases due to de novo mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2769. en:many cases due to de novo mutation or chromosome aberration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many cases due to de novo mutation or chromosome aberration | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2771. en:many cases result from de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many cases result from de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2772. en:many features are present only in an untreated patient --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many features are present only in an untreated patient | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2773. en:many patients are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2774. en:many patients become wheelchair-bound by second or third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients become wheelchair-bound by second or third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2775. en:many patients become wheelchair-bound later in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients become wheelchair-bound later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2776. en:many patients die by 1-3 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients die by 1-3 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2777. en:many patients recover normally --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients recover normally | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2778. en:many patients require cardiac pacemakers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:many patients require cardiac pacemakers | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2781. en:marked clinical heterogeneity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked clinical heterogeneity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2782. en:marked favorable response to l-dopa treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked favorable response to l-dopa treatment | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2784. en:marked phenotypic variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked phenotypic variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2785. en:marked phenotypic variability, even within an individual --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked phenotypic variability, even within an individual | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2786. en:marked variability in severity of the skin lesions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked variability in severity of the skin lesions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2787. en:marked variability in the deletion size --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marked variability in the deletion size | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2788. en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2790. en:massive aortic aneurysm can cause airway compression in affected infants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:massive aortic aneurysm can cause airway compression in affected infants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2791. en:maternal breast milk is protective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:maternal breast milk is protective | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2793. en:maternal oligohydramnios --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:maternal oligohydramnios | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2794. en:maternal uniparental disomy (upd)7 reported in some cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:maternal uniparental disomy (upd)7 reported in some cases | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2797. en:may be benign condition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be benign condition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2798. en:may be exacerbated by febrile illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be exacerbated by febrile illness | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2800. en:may be fatal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be fatal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2801. en:may be fatal in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be fatal in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2802. en:may be induced by fever or hot bath --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be induced by fever or hot bath | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2803. en:may be lethal if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be lethal if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2804. en:may be lethal in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be lethal in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2805. en:may be lethal in infancy if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be lethal in infancy if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2807. en:may be present in asymptomatic adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be present in asymptomatic adults | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2809. en:may be same entity as elejalde syndrome (256710) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be same entity as elejalde syndrome (256710) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may be seen with other forms of cancer in a family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2813. en:may be triggered by increased practice --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be triggered by increased practice | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2814. en:may be x-linked --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may be x-linked | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2815. en:may coexist with autoimmune vitiligo or thyroiditis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may coexist with autoimmune vitiligo or thyroiditis | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may have less severe phenotype than rsts patients with crebbp mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2817. en:may manifest as 'ataxic' phenotype without parkinsonian features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may manifest as 'ataxic' phenotype without parkinsonian features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2818. en:may occur cormorbidly with poland syndrome (173800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may occur cormorbidly with poland syndrome (173800) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2820. en:may present in infancy with episodes of severe metabolic decompensation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may present in infancy with episodes of severe metabolic decompensation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2821. en:may progress to upper limbs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may progress to upper limbs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2822. en:may regress in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may regress in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2823. en:may respond to cholinesterase inhibitors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may respond to cholinesterase inhibitors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2824. en:may respond to cholinesterase inhibitors of amifampridine --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may respond to cholinesterase inhibitors of amifampridine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2825. en:may result in death in neonatal period or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may result in death in neonatal period or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2826. en:may result in early death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may result in early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2827. en:may result in early death from severe diarrhea --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may result in early death from severe diarrhea | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2828. en:may result in sudden death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:may result in sudden death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2829. en:mean age at diagnosis 16 years (range 6 to 22) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at diagnosis 16 years (range 6 to 22) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at diagnosis is 38 years(range 11-63 years) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 11.4 years (range 4 to 35) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 12.5 years (range 2 to 15 years) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 16.5 years (range 9 to 35 years) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 23.9 years (range 10 to 55 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2835. en:mean age at onset 27 years (range 9 to 42) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 27 years (range 9 to 42) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 30.7 years (range 6 to 60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2837. en:mean age at onset 41 years (range 18 to 61) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 41 years (range 18 to 61) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2838. en:mean age at onset 45 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 45 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2839. en:mean age at onset 48 years (range 38 to 64) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 48 years (range 38 to 64) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2840. en:mean age at onset 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset for variant cjd is 29 years (before age 45 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2843. en:mean age at onset is 10.4 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset is 10.4 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset is 13 years (range 6 to 43) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of bone disease is 40 years (range 23-65) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at onset of muscle disease is 42 years (range 24-61) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2847. en:mean age at resolution of symptoms 10 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age at resolution of symptoms 10 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2848. en:mean age of death is 34 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of death is 34 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of diagnosis is 40 years (range 11 to 79 years) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of diagnosis of renal cell carcinoma is 46 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2851. en:mean age of diagnosis of uterine leiomyomas is 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of diagnosis of uterine leiomyomas is 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2852. en:mean age of onset 14-24 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 14-24 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2853. en:mean age of onset 18 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 18 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2854. en:mean age of onset 21 years (range 14-35 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 21 years (range 14-35 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2855. en:mean age of onset 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 30 years (range first to seventh decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2857. en:mean age of onset 34 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 34 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2858. en:mean age of onset 50.2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 50.2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2859. en:mean age of onset 56 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mean age of onset 56 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mean duration of symptoms 4.2 plus or minus 2.4 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2861. en:mechanical ventilation may be required --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mechanical ventilation may be required | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mecp2 mutations are those found in females with rett syndrome (312750) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2864. en:median age at diagnosis 7 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age at diagnosis 7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2865. en:median age at onset is 21 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age at onset is 21 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2867. en:median age of diagnosis - 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median age of diagnosis - 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2870. en:median life expectancy, 13.4 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:median life expectancy, 13.4 years | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:median onset of proteinuria is 18 years (range 10 to 21) | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2873. en:meiotic origin >95% maternal, mostly meiosis i --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:meiotic origin >95% maternal, mostly meiosis i | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2874. en:melnick-needles syndrome (mns, 309350) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2875. en:mental retardation likely secondary to neonatal hypoxia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mental retardation likely secondary to neonatal hypoxia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2876. en:metabolic decompensation, episodic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:metabolic decompensation, episodic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2877. en:metabolic rate^resting:engrat:pt:^patient:qn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:metabolic rate^resting:engrat:pt:^patient:qn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2878. en:microdeletion is approximately 1.5mb in length --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:microdeletion is approximately 1.5mb in length | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2879. en:middle age onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:middle age onset | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2882. en:mild disease course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild disease course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2883. en:mild disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2884. en:mild expression in heterozygous carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild expression in heterozygous carriers | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mild facial dysmorphism is associated with duplication of the flna gene | n2=en:two unrelated families have been reported (last curated february 2016) | 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mild features such as digital clubbing may be apparent in older heterozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2887. en:mild involvement of face and arms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild involvement of face and arms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2888. en:mild manifestations in carrier females (cleft lip, cleft tongue) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild manifestations in carrier females (cleft lip, cleft tongue) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2889. en:mild phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2890. en:mild phenotype onset - 11-18 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild phenotype onset - 11-18 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2891. en:mild symptoms may occur in teenage years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild symptoms may occur in teenage years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2892. en:mild to severe forms of disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mild to severe forms of disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2893. en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2894. en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2895. en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2896. en:milder expression in female heterozygotes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:milder expression in female heterozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2897. en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2898. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2899. en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2900. en:mildly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mildly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2901. en:minimal response to surfactant treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:minimal response to surfactant treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2902. en:minimum duplication includes bhlha9 (615416) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:minimum duplication includes bhlha9 (615416) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2903. en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2904. en:miscellaneous --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:miscellaneous | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2905. en:mliii is a heterogeneous disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mliii is a heterogeneous disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2906. en:mode of inheritance is uncertain --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mode of inheritance is uncertain | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2907. en:mode of inheritance is unclear --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mode of inheritance is unclear | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2908. en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2909. en:moderate age-related improvement of pancreatic function --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:moderate age-related improvement of pancreatic function | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2910. en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2911. en:more common in ashkenazi jews --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in ashkenazi jews | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2912. en:more common in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2913. en:more common in females (male:female ratio 4:1) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in females (male:female ratio 4:1) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2914. en:more common in males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2915. en:more common in men (9:1 male:female ratio) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in men (9:1 male:female ratio) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2916. en:more common in men than women --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in men than women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2917. en:more common in women --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2918. en:more common in women (90%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more common in women (90%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2919. en:more commonly observed in women --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more commonly observed in women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2920. en:more frequent in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more frequent in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2921. en:more frequent in individuals of asian descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more frequent in individuals of asian descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2922. en:more frequent in males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more frequent in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2923. en:more prevalent in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more prevalent in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2924. en:more severe in males than in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more severe in males than in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2925. en:more than half of patients develop retinal detachments and/or retinoschisis later in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2926. en:moroccan jewish and ashkenazi jewish families have been described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:moroccan jewish and ashkenazi jewish families have been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2927. en:mortality approximately 20% in first 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mortality approximately 20% in first 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2928. en:mortality, premature --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mortality, premature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2929. en:mosaic distribution of lesions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mosaic distribution of lesions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2930. en:most (80 to 90%) of cases result from deletions of the sts gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most (80 to 90%) of cases result from deletions of the sts gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2931. en:most affected infants die in the first month of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most affected infants die in the first month of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2932. en:most affected infants die shortly after birth from respiratory failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most affected infants die shortly after birth from respiratory failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2933. en:most affected males die of respiratory failure within the first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most affected males die of respiratory failure within the first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2934. en:most affected patients die in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most affected patients die in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2935. en:most become wheelchair-bound late in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most become wheelchair-bound late in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2936. en:most carrier females have mild mental retardation and subtle facial changes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most carrier females have mild mental retardation and subtle facial changes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2937. en:most case are sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most case are sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2938. en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2939. en:most cases are autosomal dominant, recessive inheritance has rarely been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2940. en:most cases are caused by mutation in the phox2b gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases are caused by mutation in the phox2b gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2941. en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2942. en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2943. en:most cases are isolated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases are isolated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2944. en:most cases are responsive to steroids --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases are responsive to steroids | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2945. en:most cases do not have mutations in the mapt gene, but map to chromosome 17q --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2946. en:most cases due to de novo mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases due to de novo mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2947. en:most cases occur de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases occur de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2948. en:most cases result from a de novo mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases result from a de novo mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2949. en:most cases result from de novo mutation or deletion of rai1 (607642) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases result from de novo mutation or deletion of rai1 (607642) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2950. en:most cases result from de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases result from de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2951. en:most cases sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most cases sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2952. en:most children become wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most children become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2953. en:most common age of clinical onset ranges from 16 to 33 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common age of clinical onset ranges from 16 to 33 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2954. en:most common cancer in men aged 15-40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common cancer in men aged 15-40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2955. en:most common disorder of fatty acid oxidation (1/13,000 births) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common disorder of fatty acid oxidation (1/13,000 births) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2956. en:most common episodic ataxia syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common episodic ataxia syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2957. en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2958. en:most common form of bowel obstruction in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common form of bowel obstruction in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2959. en:most common form of childhood idiopathic epilepsy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common form of childhood idiopathic epilepsy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2960. en:most common form of congenital methemoglobinemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common form of congenital methemoglobinemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2961. en:most common form of inherited, congenital hydrocephalus --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common form of inherited, congenital hydrocephalus | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2962. en:most common form of porphyria --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common form of porphyria | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2963. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2964. en:most common inherited ataxia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common inherited ataxia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2965. en:most common inherited bleeding disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common inherited bleeding disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2966. en:most common inherited giant platelet disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common inherited giant platelet disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2967. en:most common muscle disease of older persons --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common muscle disease of older persons | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2968. en:most common mutation is leu276ile (606596.0004) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common mutation is leu276ile (606596.0004) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2969. en:most common subtype of frontotemporal dementia (600274) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common subtype of frontotemporal dementia (600274) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2970. en:most common terminal deletion syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most common terminal deletion syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2971. en:most frequently affected joints - hands (98%) and feet (88%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most frequently affected joints - hands (98%) and feet (88%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2972. en:most have onset in first or second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most have onset in first or second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2973. en:most have resolution of symptoms between 6 and 12 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most have resolution of symptoms between 6 and 12 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2974. en:most individuals are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most individuals are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2975. en:most individuals are wheelchair-bound or bedridden by adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most individuals are wheelchair-bound or bedridden by adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2976. en:most mutations occur de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most mutations occur de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2977. en:most patients appear unaffected in the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients appear unaffected in the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2978. en:most patients are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2979. en:most patients are asymptomatic and are detected by newborn screening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are asymptomatic and are detected by newborn screening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2980. en:most patients are clinically asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are clinically asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2981. en:most patients are clinically asymptomatic and show normal development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are clinically asymptomatic and show normal development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2982. en:most patients are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2983. en:most patients are from finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are from finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2984. en:most patients are severely affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are severely affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2985. en:most patients are stillborn or die in immediate neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients are stillborn or die in immediate neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2986. en:most patients become seizure-free by age 3 or 4 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become seizure-free by age 3 or 4 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2987. en:most patients become wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2988. en:most patients become wheelchair-bound after 20 to 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become wheelchair-bound after 20 to 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2989. en:most patients become wheelchair-bound in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become wheelchair-bound in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2990. en:most patients become wheelchair-bound in adolescence or as young adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become wheelchair-bound in adolescence or as young adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2991. en:most patients become wheelchair-bound in later childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become wheelchair-bound in later childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2992. en:most patients become wheelchair-bound in the second to fourth decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients become wheelchair-bound in the second to fourth decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2993. en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2994. en:most patients die from heart failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die from heart failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2995. en:most patients die in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2996. en:most patients die in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2997. en:most patients die in first years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die in first years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2998. en:most patients die in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  2999. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3000. en:most patients die in the first days of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die in the first days of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3001. en:most patients die in the first months or years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die in the first months or years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3002. en:most patients die in the neonatal period due to respiratory insufficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die in the neonatal period due to respiratory insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3003. en:most patients die of hepatic failure by 9 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die of hepatic failure by 9 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3004. en:most patients die of renal failure in early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die of renal failure in early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3005. en:most patients die within the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients die within the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3006. en:most patients do not learn to sit or walk --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients do not learn to sit or walk | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3007. en:most patients have a family history of fragile x syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have a family history of fragile x syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3008. en:most patients have adult onset of symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have adult onset of symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3009. en:most patients have contiguous gene deletion syndrome involving xp22 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have contiguous gene deletion syndrome involving xp22 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3010. en:most patients have de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3011. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3012. en:most patients have no bleeding abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have no bleeding abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3013. en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3014. en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3015. en:most patients have severe streptococcus pneumoniae infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients have severe streptococcus pneumoniae infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3016. en:most patients lose ambulation 2 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients lose ambulation 2 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3017. en:most patients need assistance walking or are wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients need assistance walking or are wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3018. en:most patients need hip replacement by their mid-thirties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients need hip replacement by their mid-thirties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3019. en:most patients present in infancy with anemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients present in infancy with anemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3020. en:most patients remain ambulatory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients remain ambulatory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3021. en:most patients remain ambulatory in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients remain ambulatory in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3022. en:most patients require liver transplant in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients require liver transplant in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3023. en:most patients require liver transplantation within the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients require liver transplantation within the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3024. en:most patients require renal transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients require renal transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3025. en:most patients retain ambulation with aids --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients retain ambulation with aids | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3026. en:most patients show early childhood onset after a period of normal development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most patients show early childhood onset after a period of normal development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3027. en:most pregnancies with affected fetuses resulted in elective termination --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most pregnancies with affected fetuses resulted in elective termination | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3028. en:most remit by 2 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most remit by 2 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3029. en:most remit by 6 weeks (1-6 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most remit by 6 weeks (1-6 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3030. en:most reported cases come from the island of mauritius or nearby islands --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most reported cases come from the island of mauritius or nearby islands | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3031. en:most retain independent ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most retain independent ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3032. en:most severe form of gaucher disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most severe form of gaucher disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3033. en:most severe type of von willebrand disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most severe type of von willebrand disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3034. en:most types show autosomal dominant inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:most types show autosomal dominant inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3035. en:mother had rubella infection during pregnancy with daughter --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mother had rubella infection during pregnancy with daughter | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3036. en:mother who carries the mutation is clinically unaffected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mother who carries the mutation is clinically unaffected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3037. en:motor delay --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor delay | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3038. en:motor fluctuations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor fluctuations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3039. en:motor impairment more significant than sensory impairment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor impairment more significant than sensory impairment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3040. en:motor neuropathy more prominent than sensory neuropathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor neuropathy more prominent than sensory neuropathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3041. en:motor skills less affected than cognitive skills --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor skills less affected than cognitive skills | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3042. en:motor symptoms are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor symptoms are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3043. en:motor symptoms develop later (about 5 years into illness) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor symptoms develop later (about 5 years into illness) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3044. en:motor symptoms show mild clinical improvement with levodopa treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:motor symptoms show mild clinical improvement with levodopa treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3045. en:mousy odor --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mousy odor | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3046. en:movements worsened by anxiety --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:movements worsened by anxiety | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3047. en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3048. en:mucocutaneous immunodeficiency syndrome may be prominent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mucocutaneous immunodeficiency syndrome may be prominent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3049. en:mulibrey is an acronym (muscle, liver, brain, and eyes) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3050. en:multiorgan failure may result from hs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiorgan failure may result from hs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3051. en:multiple congenital anomalies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiple congenital anomalies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3052. en:multiple gene loci involved in causation of schizophrenia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiple gene loci involved in causation of schizophrenia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3053. en:multiple lesions in familial cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiple lesions in familial cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3054. en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3055. en:multiple prenatal fractures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiple prenatal fractures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3056. en:multiple seizures daily at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiple seizures daily at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3057. en:multiple spontaneous abortions in obligate carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multiple spontaneous abortions in obligate carriers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3058. en:multisystem decompensation in response to viral infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:multisystem decompensation in response to viral infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3059. en:murcs association --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:murcs association | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3060. en:muscle contractions in infancy occur in response to tactile stimulation or crying --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:muscle contractions in infancy occur in response to tactile stimulation or crying | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3061. en:muscle involvement shows onset at birth or in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:muscle involvement shows onset at birth or in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3062. en:muscle symptoms precede cardiac symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:muscle symptoms precede cardiac symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3063. en:muscle weakness increases with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:muscle weakness increases with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3064. en:muscle weakness occurs only in the presence of hyperthyroidism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:muscle weakness occurs only in the presence of hyperthyroidism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3065. en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3066. en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3067. en:mutant alleles have 47 to 63 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutant alleles have 47 to 63 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3068. en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3069. en:mutation carriers may show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3070. en:mutation found in 1 puerto rican family (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation found in 1 puerto rican family (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3071. en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3072. en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3073. en:mutation in npr2 results in gain-of-function --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation in npr2 results in gain-of-function | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3074. en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3075. en:mutation in rp9 gene in family (607331.0001) likely not pathogenic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3076. en:mutation in the hcrt gene has been identified in 1 patient --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation in the hcrt gene has been identified in 1 patient | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3077. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3078. en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3079. en:mutations are frequently maternally inherited --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutations are frequently maternally inherited | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3080. en:mutations have been identified in spanish families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutations have been identified in spanish families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3081. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3082. en:mutations occur de novo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutations occur de novo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3083. en:mutations result in inactivation of nkx3-2 (602183) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutations result in inactivation of nkx3-2 (602183) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3084. en:mutations show partial penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:mutations show partial penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3085. en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3086. en:myoclonic seizures occur on awakening or within 2 hours of awakening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:myoclonic seizures occur on awakening or within 2 hours of awakening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3087. en:myoclonus is presenting symptom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:myoclonus is presenting symptom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3088. en:myoclonus occurs at rest and with action --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:myoclonus occurs at rest and with action | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3089. en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3090. en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3091. en:n-myc oncogene (164840) amplification is associated with poor prognosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:n-myc oncogene (164840) amplification is associated with poor prognosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3092. en:nail changes may be intermittent in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nail changes may be intermittent in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3093. en:nails appear normal at birth, with dystrophic changes developing within the first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3094. en:nails may be intermittently involved --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nails may be intermittently involved | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3095. en:nails, palms, and soles are spared in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nails, palms, and soles are spared in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3096. en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3097. en:narcolepsy and deafness are the first symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:narcolepsy and deafness are the first symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3098. en:natural aversion to carbohydrates --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:natural aversion to carbohydrates | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3099. en:natural aversion to carbohydrates and favoring of protein --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:natural aversion to carbohydrates and favoring of protein | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3100. en:near-normoglycemic remission for period of months to years without insulin treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:near-normoglycemic remission for period of months to years without insulin treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3101. en:nearly 100% penetrance by 60 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nearly 100% penetrance by 60 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3102. en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3103. en:neonatal and late-infantile onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal and late-infantile onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3104. en:neonatal death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3105. en:neonatal death secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal death secondary to pulmonary insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3106. en:neonatal lethal due to respiratory insufficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal lethal due to respiratory insufficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3107. en:neonatal onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3108. en:neonatal onset of nephrotic syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal onset of nephrotic syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3109. en:neonatal or infant death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal or infant death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3110. en:neonatal sepsis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal sepsis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3111. en:neonatal severe hyperparathyroidism in homozygotes (239200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal severe hyperparathyroidism in homozygotes (239200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3112. en:neonatal/infantile death in most patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neonatal/infantile death in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3113. en:neuroendocrine recovery occurs in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neuroendocrine recovery occurs in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3114. en:neurologic deterioration is severe after age 2 to 2.5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic deterioration is severe after age 2 to 2.5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3115. en:neurologic dysfunction is infrequent and associated with delayed diagnosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3116. en:neurologic features are variable and not progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic features are variable and not progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3117. en:neurologic features have been diagnosed in ~30% of cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic features have been diagnosed in ~30% of cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3118. en:neurologic features occur in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic features occur in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3119. en:neurologic features occur later in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic features occur later in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3120. en:neurologic findings closely resemble those of huntington disease (hd, 143100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3121. en:neurologic involvement may occur in the absence of visceral involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic involvement may occur in the absence of visceral involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3122. en:neurologic signs are present in the neonatal period only --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic signs are present in the neonatal period only | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3123. en:neurologic signs last hours to days --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic signs last hours to days | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3124. en:neurologic signs may not be present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic signs may not be present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3125. en:neurologic signs onset during adolescence or young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic signs onset during adolescence or young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3126. en:neurologic symptoms are not always present or may appear late --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic symptoms are not always present or may appear late | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3127. en:neurologic symptoms are progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic symptoms are progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3128. en:neurologic symptoms may develop decades later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic symptoms may develop decades later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3129. en:neurologic symptoms may occur after trauma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurologic symptoms may occur after trauma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3130. en:neuromuscular forms can present as perinate, infant, child, or adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neuromuscular forms can present as perinate, infant, child, or adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3131. en:neuromuscular, cardiovascular, and infectious symptoms improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3132. en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3133. en:neuropathy becomes apparent in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neuropathy becomes apparent in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3134. en:neuropsychiatric manifestations are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neuropsychiatric manifestations are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3135. en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3136. en:new skin lesions stop appearing before adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:new skin lesions stop appearing before adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3137. en:newborn period is critical for survival --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:newborn period is critical for survival | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3138. en:night blindness from early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:night blindness from early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3139. en:nine patients have been reported in detail (as of 14 june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nine patients have been reported in detail (as of 14 june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3140. en:ninety percent of cases are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ninety percent of cases are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3141. en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3142. en:no abdominal symptoms or neurologic symptoms in harderoporphyria --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3143. en:no abnormalities of hair, teeth, or bones --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no abnormalities of hair, teeth, or bones | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3144. en:no abnormalities of skin, hair, teeth, or bones --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no abnormalities of skin, hair, teeth, or bones | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3145. en:no cardiac or immune defects in patients from the 2 reported families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no cardiac or immune defects in patients from the 2 reported families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3146. en:no chronic or permanent liver damage --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no chronic or permanent liver damage | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3147. en:no clinical description given for 1 reported patient (last curated december 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no clinical description given for 1 reported patient (last curated december 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3148. en:no clinical details provided by the authors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no clinical details provided by the authors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3149. en:no clinical manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no clinical manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3150. en:no clinical manifestations were noted (incidental laboratory finding) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no clinical manifestations were noted (incidental laboratory finding) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3151. en:no congenital form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no congenital form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3152. en:no consistent disease phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no consistent disease phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3153. en:no dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3154. en:no family history of --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no family history of | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3155. en:no family history, de novo mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no family history, de novo mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3156. en:no features consistent with cystic fibrosis found in these patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no features consistent with cystic fibrosis found in these patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3157. en:no history of familial hypercholesterolemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no history of familial hypercholesterolemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3158. en:no increased fragility of hair --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no increased fragility of hair | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3159. en:no laterality defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no laterality defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3160. en:no male-to-male transmission --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no male-to-male transmission | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3161. en:no mutations reported in la reunion island patients (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no mutations reported in la reunion island patients (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3162. en:no neurologic sequelae --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no neurologic sequelae | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3163. en:no opportunistic infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no opportunistic infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3164. en:no peripheral signs of hypothyroidism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no peripheral signs of hypothyroidism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3165. en:no phenotype in heterozygotes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no phenotype in heterozygotes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3166. en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3167. en:no phenotypic manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no phenotypic manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3168. en:no preceding skin inflammatory stage --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no preceding skin inflammatory stage | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3169. en:no predisposition to skin tumor development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no predisposition to skin tumor development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3170. en:no recurrence of nephrotic syndrome after transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no recurrence of nephrotic syndrome after transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3171. en:no response or worsening with acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no response or worsening with acetylcholinesterase inhibitors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3172. en:no response to phenobarbital --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no response to phenobarbital | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3173. en:no situs inversus --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no situs inversus | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3174. en:no skeletal abnormalities in odontohypophosphatasia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no skeletal abnormalities in odontohypophosphatasia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3175. en:no skin abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no skin abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3176. en:no systemic manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:no systemic manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3177. en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3178. en:non-progressive and more severe progressive forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:non-progressive and more severe progressive forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3179. en:non-progressive or very slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:non-progressive or very slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3180. en:non-tender --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:non-tender | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3181. en:nonpenetrance has been observed --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonpenetrance has been observed | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3182. en:nonprogressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonprogressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3183. en:nonprogressive hepatic form is less frequent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonprogressive hepatic form is less frequent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3184. en:nonprogressive in most patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonprogressive in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3185. en:nonprogressive or slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonprogressive or slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3186. en:nonprogressive or very slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonprogressive or very slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3187. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3188. en:nonreflex epilepsy may occur later in 16 to 38% of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonreflex epilepsy may occur later in 16 to 38% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3189. en:nonspecific subtle dysmorphic facial features may be present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonspecific subtle dysmorphic facial features may be present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3190. en:nonsyndromic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonsyndromic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3191. en:nonsyndromic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nonsyndromic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3192. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3193. en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3194. en:normal ability to tolerate heat --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal ability to tolerate heat | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3195. en:normal alleles contain 15 to 50 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal alleles contain 15 to 50 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3196. en:normal alleles contain 6 to 28 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal alleles contain 6 to 28 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3197. en:normal alleles contain up to 30 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal alleles contain up to 30 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3198. en:normal alleles contain up to 44 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal alleles contain up to 44 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3199. en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3200. en:normal alleles have 25 to 44 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal alleles have 25 to 44 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3201. en:normal alleles have 4 to 18 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal alleles have 4 to 18 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3202. en:normal at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3203. en:normal birth (finding) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal birth (finding) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3204. en:normal cag repeat length is 7 to 32 triplets --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal cag repeat length is 7 to 32 triplets | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3205. en:normal development before onset of seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal development before onset of seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3206. en:normal development between episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal development between episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3207. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3208. en:normal development until onset of seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal development until onset of seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3209. en:normal female secondary sexual characteristics --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal female secondary sexual characteristics | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3210. en:normal fertility --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal fertility | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3211. en:normal first month --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal first month | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3212. en:normal growth and development after 1 year of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal growth and development after 1 year of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3213. en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3214. en:normal in neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal in neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3215. en:normal intelligence in majority --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal intelligence in majority | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3216. en:normal neonatal blood phenylalanine has been reported in rare patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal neonatal blood phenylalanine has been reported in rare patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3217. en:normal neonatal course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal neonatal course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3218. en:normal range of expanded repeats 9-29, hd range 36-121 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal range of expanded repeats 9-29, hd range 36-121 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3219. en:normal sclerae and teeth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal sclerae and teeth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3220. en:normal sialophorin gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal sialophorin gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3221. en:normal sweat electrolytes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:normal sweat electrolytes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3222. en:not all nails are affected in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not all nails are affected in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3223. en:not all patients have a myopathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not all patients have a myopathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3224. en:not all patients have all features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not all patients have all features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3225. en:not all patients have dysmorphic facial features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not all patients have dysmorphic facial features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3226. en:not all patients have facial dysmorphism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not all patients have facial dysmorphism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3227. en:not all patients have renal involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not all patients have renal involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3228. en:not all patients have skeletal muscle symptoms or mental retardation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not all patients have skeletal muscle symptoms or mental retardation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3229. en:not responsive to biotin treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not responsive to biotin treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3230. en:not responsive to steroid treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:not responsive to steroid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3231. en:noted in early childhood in most patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:noted in early childhood in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3232. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3233. en:nphp shows autosomal recessive inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nphp shows autosomal recessive inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3234. en:number of episodes varies from 1 to many (up to 20) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:number of episodes varies from 1 to many (up to 20) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3235. en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3236. en:nyctalopia is a later feature of the disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nyctalopia is a later feature of the disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3237. en:nystagmus is often the presenting sign --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nystagmus is often the presenting sign | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3238. en:nystagmus may disappear by mid-childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:nystagmus may disappear by mid-childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3239. en:obligate female carriers may show mild signs of muscle weakness, especially of the face --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3240. en:obligatory heterozygotes are clinically unaffected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:obligatory heterozygotes are clinically unaffected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3241. en:observed in individuals of bulgarian roma bowlmaker ethnic group --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:observed in individuals of bulgarian roma bowlmaker ethnic group | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3242. en:occasional adult onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occasional adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3243. en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3244. en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3245. en:occasionally low-dose insulin required --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occasionally low-dose insulin required | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3246. en:occurs at age 20-50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs at age 20-50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3247. en:occurs during pregnancy, most often in the third trimester --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs during pregnancy, most often in the third trimester | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3248. en:occurs in 1 in 50,000 newborn males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in 1 in 50,000 newborn males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3249. en:occurs in 2-5 per 10,000 individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in 2-5 per 10,000 individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3250. en:occurs in about 1 in 10,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in about 1 in 10,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3251. en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3252. en:occurs in full-term infants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in full-term infants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3253. en:occurs in full-term newborns --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in full-term newborns | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3254. en:occurs in the absence of trauma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in the absence of trauma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3255. en:occurs in women and is triggered by pregnancy or estrogen therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in women and is triggered by pregnancy or estrogen therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3256. en:occurs in ~3% pregnancies in western populations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs in ~3% pregnancies in western populations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3257. en:occurs more frequently in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs more frequently in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3258. en:occurs most often among black africans --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs most often among black africans | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3259. en:occurs most often between 5 and 15 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs most often between 5 and 15 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3260. en:occurs most often in developing countries in tropical regions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs most often in developing countries in tropical regions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3261. en:occurs much more commonly in women --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs much more commonly in women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3262. en:occurs on right side in 75% of cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:occurs on right side in 75% of cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3263. en:ocular abnormalities may be very mild --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ocular abnormalities may be very mild | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3264. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3265. en:oculomotor apraxia is not always present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:oculomotor apraxia is not always present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3266. en:odor of 'sweaty feet' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:odor of 'sweaty feet' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3267. en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3268. en:often associated with chiari type i malformation (cm1, 118420) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often associated with chiari type i malformation (cm1, 118420) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3269. en:often associated with klippel-feil anomaly (118100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often associated with klippel-feil anomaly (118100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3270. en:often associated with syringomyelia (186700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often associated with syringomyelia (186700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3271. en:often confused with tuberous sclerosis (191000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often confused with tuberous sclerosis (191000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3272. en:often diagnosed between ages 3-4 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often diagnosed between ages 3-4 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3273. en:often fatal due in infancy due to intractable diarrhea --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often fatal due in infancy due to intractable diarrhea | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3274. en:often fatal in utero --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often fatal in utero | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3275. en:often identified in newborn period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often identified in newborn period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3276. en:often lethal in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often lethal in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3277. en:often presents with cranial or cervical involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often presents with cranial or cervical involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3278. en:often reared as females until puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often reared as females until puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3279. en:often refractory to medical therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often refractory to medical therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3280. en:often results in death in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often results in death in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3281. en:often unilateral involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:often unilateral involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3282. en:old order amish, african american, and french patients have been described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:old order amish, african american, and french patients have been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3283. en:older individuals had moderate to severe hearing loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:older individuals had moderate to severe hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3284. en:older patients become wheelchair-dependent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:older patients become wheelchair-dependent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3285. en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3286. en:one 3-generation danish family reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 3-generation danish family reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3287. en:one 3-generation italian family has been described (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 3-generation italian family has been described (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3288. en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3289. en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3290. en:one 4-generation chinese family has been reported (as of 04/2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 4-generation chinese family has been reported (as of 04/2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3291. en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3292. en:one 5-generation chinese family reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 5-generation chinese family reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3293. en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3294. en:one 9-generation family and 1 isolated patient described (last curated march 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3295. en:one amish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one amish family has been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3296. en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3297. en:one boy and 5 unrelated girls have been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3298. en:one brazilian family with 12 affected individuals reported (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3299. en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3300. en:one canadian mennonite family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one canadian mennonite family has been reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3301. en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3302. en:one chinese family has been reported (as of august 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one chinese family has been reported (as of august 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3303. en:one chinese family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one chinese family has been reported (last curated october 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3304. en:one chinese family with 14 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3305. en:one chinese family with a confirmed mutation has been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3306. en:one compound heterozygous patient reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one compound heterozygous patient reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3307. en:one consanguineous algerian family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous algerian family has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3308. en:one consanguineous arab family has been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous arab family has been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3309. en:one consanguineous arab family has been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous arab family has been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3310. en:one consanguineous arab israeli family has been reported (last curated february, 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3311. en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3312. en:one consanguineous costa rican family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous costa rican family has been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3313. en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3314. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3315. en:one consanguineous family has been reported (last curated december 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family has been reported (last curated december 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3316. en:one consanguineous family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family has been reported (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3317. en:one consanguineous family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family has been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3318. en:one consanguineous family has been reported (last curated may 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family has been reported (last curated may 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3319. en:one consanguineous family has been reported (last curated may 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family has been reported (last curated may 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3320. en:one consanguineous family has been reported (last curated november 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family has been reported (last curated november 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3321. en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3322. en:one consanguineous family of indian descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family of indian descent has been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3323. en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3324. en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3325. en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3326. en:one consanguineous italian family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous italian family has been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3327. en:one consanguineous moroccan family has been reported (as of january 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous moroccan family has been reported (as of january 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3328. en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3329. en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3330. en:one consanguineous pakistani family has been described (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been described (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3331. en:one consanguineous pakistani family has been reported (as of january 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been reported (as of january 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3332. en:one consanguineous pakistani family has been reported (last curated june 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been reported (last curated june 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3333. en:one consanguineous pakistani family has been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3334. en:one consanguineous pakistani family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3335. en:one consanguineous pakistani family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3336. en:one consanguineous pakistani family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3337. en:one consanguineous pakistani family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family has been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3338. en:one consanguineous pakistani family reported (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani family reported (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3339. en:one consanguineous pakistani has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3340. en:one consanguineous pakistani reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous pakistani reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3341. en:one consanguineous saudi arabian family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3342. en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3343. en:one consanguineous saudi family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous saudi family has been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3344. en:one consanguineous senegalese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous senegalese family has been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3345. en:one consanguineous tunisian family has been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous tunisian family has been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3346. en:one consanguineous turkish family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous turkish family has been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3347. en:one consanguineous turkish family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous turkish family has been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3348. en:one consanguineous turkish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous turkish family has been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3349. en:one consanguineous turkish family has been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous turkish family has been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3350. en:one consanguineous turkish family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous turkish family has been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3351. en:one consanguineous turkish family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one consanguineous turkish family has been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3352. en:one family (4 affected members) has been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family (4 affected members) has been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3353. en:one family and 1 unrelated patient have been reported (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family and 1 unrelated patient have been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3354. en:one family and 1 unrelated patient have been reported (last curated january 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family and 1 unrelated patient have been reported (last curated january 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3355. en:one family and 1 unrelated patient have been reported (last curated july 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family and 1 unrelated patient have been reported (last curated july 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3356. en:one family and an unrelated patient have been reported (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family and an unrelated patient have been reported (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3357. en:one family and an unrelated patient have been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family and an unrelated patient have been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3358. en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3359. en:one family described (last curated october 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family described (last curated october 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3360. en:one family from hong kong has been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family from hong kong has been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3361. en:one family from punjab, india has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family from punjab, india has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3362. en:one family from the old order amish has been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family from the old order amish has been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3363. en:one family had normal cognitive and neurologic development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family had normal cognitive and neurologic development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3364. en:one family has been described (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been described (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3365. en:one family has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3366. en:one family has been reported (as of 4/2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of 4/2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3367. en:one family has been reported (as of april 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of april 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3368. en:one family has been reported (as of august 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of august 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3369. en:one family has been reported (as of curation date may, 2013) onset in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of curation date may, 2013) onset in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3370. en:one family has been reported (as of january 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of january 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3371. en:one family has been reported (as of january 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of january 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3372. en:one family has been reported (as of july 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of july 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3373. en:one family has been reported (as of june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3374. en:one family has been reported (as of october 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of october 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3375. en:one family has been reported (as of september 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (as of september 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3376. en:one family has been reported (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3377. en:one family has been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3378. en:one family has been reported (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3379. en:one family has been reported (last curated december 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated december 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3380. en:one family has been reported (last curated december 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated december 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3381. en:one family has been reported (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3382. en:one family has been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3383. en:one family has been reported (last curated january 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated january 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3384. en:one family has been reported (last curated january 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated january 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3385. en:one family has been reported (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3386. en:one family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3387. en:one family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated june 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3388. en:one family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3389. en:one family has been reported (last curated march 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated march 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3390. en:one family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3391. en:one family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3392. en:one family has been reported (last curated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3393. en:one family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3394. en:one family has been reported (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3395. en:one family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3396. en:one family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated october 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3397. en:one family has been reported (last curated october 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated october 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3398. en:one family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3399. en:one family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3400. en:one family has been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3401. en:one family has been reported and no additional clinical features were provided (last curated june 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3402. en:one family has been reported with limited clinical information (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family has been reported with limited clinical information (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3403. en:one family of algerian descent has been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of algerian descent has been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3404. en:one family of french-canadian origin has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of french-canadian origin has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3405. en:one family of french-canadian origin has been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of french-canadian origin has been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3406. en:one family of irish traveller descent described (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of irish traveller descent described (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3407. en:one family of italian-american descent has been described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of italian-american descent has been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3408. en:one family of mali origin has been reported (last curated january 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of mali origin has been reported (last curated january 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3409. en:one family of puerto rican descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of puerto rican descent has been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3410. en:one family of sicilian origin has been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family of sicilian origin has been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3411. en:one family reported (as of may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (as of may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3412. en:one family reported (as of november 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (as of november 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3413. en:one family reported (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3414. en:one family reported (last curated july 2008) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (last curated july 2008) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3415. en:one family reported (last curated june 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (last curated june 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3416. en:one family reported (last curated may 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (last curated may 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3417. en:one family reported (last curated november 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (last curated november 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3418. en:one family reported (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3419. en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3420. en:one family reported with piezo2 mutation (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family reported with piezo2 mutation (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3421. en:one family with 2 affected brothers has been reported (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 2 affected brothers has been reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3422. en:one family with 2 affected fetuses has been reported (as of august 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 2 affected fetuses has been reported (as of august 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3423. en:one family with 2 sisters have been reported (as of march 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 2 sisters have been reported (as of march 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3424. en:one family with 3 affected girls has been reported (as of october 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 3 affected girls has been reported (as of october 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3425. en:one family with 3 affected individuals has been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 3 affected individuals has been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3426. en:one family with 3 affected males has been reported (as of october 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 3 affected males has been reported (as of october 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3427. en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3428. en:one family with 4 affected sibs has been reported (as of april 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 4 affected sibs has been reported (as of april 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3429. en:one family with 5 affected members has been reported (last curated september 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 5 affected members has been reported (last curated september 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3430. en:one family with 6 probands described (as of september 2000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with 6 probands described (as of september 2000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3431. en:one family with a cacna1b mutation has been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with a cacna1b mutation has been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3432. en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3433. en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3434. en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3435. en:one family with a fatal subacute encephalopathy has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with a fatal subacute encephalopathy has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3436. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3437. en:one family with autosomal dominant inheritance had only progressive bone marrow failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3438. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3439. en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3440. en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3441. en:one family with confirmed genetic basis has been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with confirmed genetic basis has been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3442. en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3443. en:one french family has been reported (as of march 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one french family has been reported (as of march 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3444. en:one french family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one french family has been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3445. en:one french family has been reported (last curated march 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one french family has been reported (last curated march 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3446. en:one german family has been reported (as of september 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one german family has been reported (as of september 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3447. en:one han chinese family and one german family have been described (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one han chinese family and one german family have been described (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3448. en:one indian family has been reported (as of october 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one indian family has been reported (as of october 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3449. en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3450. en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3451. en:one italian family has been described (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one italian family has been described (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3452. en:one italian family has been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one italian family has been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3453. en:one japanese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one japanese family has been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3454. en:one japanese patient has been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one japanese patient has been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3455. en:one korean family has been reported (as of november 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one korean family has been reported (as of november 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3456. en:one large 3-generation irish family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large 3-generation irish family has been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3457. en:one large 4-generation uruguayan family reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large 4-generation uruguayan family reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3458. en:one large consanguineous arab muslim family has been reported (as of september 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large consanguineous arab muslim family has been reported (as of september 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3459. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3460. en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3461. en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3462. en:one large family has been reported (as of 2008) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large family has been reported (as of 2008) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3463. en:one large family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large family has been reported (last curated june 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3464. en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3465. en:one large italian kindred has been reported (last curated november 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large italian kindred has been reported (last curated november 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3466. en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3467. en:one large swedish family has been reported (as of april 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one large swedish family has been reported (as of april 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3468. en:one likely consanguineous turkish family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one likely consanguineous turkish family has been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3469. en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3470. en:one male patient has been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one male patient has been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3471. en:one of the 2 most common forms of albinism in the world, along with oca2 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one of the 2 most common forms of albinism in the world, along with oca2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3472. en:one of the 2 most common forms of oca in the world along with oca1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one of the 2 most common forms of oca in the world along with oca1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3473. en:one of the most common autoimmune diseases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one of the most common autoimmune diseases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3474. en:one pakistani family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one pakistani family has been reported (last curated october 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3475. en:one pakistani family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one pakistani family has been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3476. en:one pakistani family reported (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one pakistani family reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3477. en:one pakistani reported (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one pakistani reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3478. en:one palestinian family and one lebanese family have been described (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one palestinian family and one lebanese family have been described (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3479. en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3480. en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3481. en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3482. en:one patient died at 17 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient died at 17 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3483. en:one patient died at age 7 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient died at age 7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3484. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3485. en:one patient had onset at age 4 months after normal development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient had onset at age 4 months after normal development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3486. en:one patient had onset at birth and a more severe disorder resulting in death at a young age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3487. en:one patient has been described (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been described (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3488. en:one patient has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3489. en:one patient has been reported (as of april 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of april 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3490. en:one patient has been reported (as of august 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of august 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3491. en:one patient has been reported (as of curation date may, 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of curation date may, 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3492. en:one patient has been reported (as of december 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of december 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3493. en:one patient has been reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3494. en:one patient has been reported (as of july 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of july 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3495. en:one patient has been reported (as of march 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of march 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3496. en:one patient has been reported (as of may 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of may 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3497. en:one patient has been reported (as of sept 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (as of sept 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3498. en:one patient has been reported (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3499. en:one patient has been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3500. en:one patient has been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3501. en:one patient has been reported (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3502. en:one patient has been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3503. en:one patient has been reported (last curated january 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated january 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3504. en:one patient has been reported (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3505. en:one patient has been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3506. en:one patient has been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3507. en:one patient has been reported (last curated july 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated july 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3508. en:one patient has been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3509. en:one patient has been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3510. en:one patient has been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3511. en:one patient has been reported (last curated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3512. en:one patient has been reported (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3513. en:one patient has been reported (last curated november 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated november 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3514. en:one patient has been reported (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3515. en:one patient has been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3516. en:one patient has been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3517. en:one patient has been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3518. en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3519. en:one patient reported (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient reported (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3520. en:one patient reported with col3a1 mutation (120180.0020) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient reported with col3a1 mutation (120180.0020) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3521. en:one patient reported with slitrk1 mutation (as of january 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient reported with slitrk1 mutation (as of january 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3522. en:one patient showed improvement and was thriving at 46 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient showed improvement and was thriving at 46 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3523. en:one patient studied at molecular level (as of july 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient studied at molecular level (as of july 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3524. en:one patient was asymptomatic and detected by neonatal screening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient was asymptomatic and detected by neonatal screening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3525. en:one patient was less severely affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient was less severely affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3526. en:one patient with a de novo mutation has been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with a de novo mutation has been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3527. en:one patient with a homozygous mutation has been reported (as of 14 june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3528. en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3529. en:one patient with additional features of fanconi anemia has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with additional features of fanconi anemia has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3530. en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3531. en:one patient with episodic ataxia and later onset has been reported (as of june 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3532. en:one patient with limited clinical information has been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with limited clinical information has been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3533. en:one patient with normal cognition has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with normal cognition has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3534. en:one patient with normal psychomotor development has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with normal psychomotor development has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3535. en:one patient with normal psychomotor development has been reported (last curated december 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with normal psychomotor development has been reported (last curated december 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3536. en:one patient with severe congenital onset has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with severe congenital onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3537. en:one patient with unrelated german parents has been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one patient with unrelated german parents has been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3538. en:one report of a large italian family from sardinia (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one report of a large italian family from sardinia (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3539. en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3540. en:one report of brother and sister from nonconsanguineous parents --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one report of brother and sister from nonconsanguineous parents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3541. en:one report of mother and son (last curated august 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one report of mother and son (last curated august 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3542. en:one six-generation family from northern china has been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one six-generation family from northern china has been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3543. en:one spanish family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one spanish family has been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3544. en:one spanish family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one spanish family has been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3545. en:one swedish patient has been reported (last curated november 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one swedish patient has been reported (last curated november 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3546. en:one swiss family with 19 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3547. en:one third of patients represent new mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one third of patients represent new mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3548. en:one turkish girl has been reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one turkish girl has been reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3549. en:one-third of cases are familial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one-third of cases are familial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3550. en:one-third of cases are sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:one-third of cases are sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3551. en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3552. en:only 10% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only 10% develop hypertension at 18 years of age or less | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3553. en:only 13% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only 13% develop hypertension at 18 years of age or less | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3554. en:only 46,xy individuals are affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only 46,xy individuals are affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3555. en:only apparent in patients taking eculizumab --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only apparent in patients taking eculizumab | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3556. en:only female patients reported (last curated october 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only female patients reported (last curated october 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3557. en:only individuals homozygous for risk or non-risk alleles were studied --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only individuals homozygous for risk or non-risk alleles were studied | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3558. en:only some patients showed neurologic involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only some patients showed neurologic involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3559. en:only women have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:only women have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3560. en:onset - present at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset - present at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3561. en:onset 0-12 hours after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 0-12 hours after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3562. en:onset 1-12 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 1-12 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3563. en:onset 1-70 years of age (95% by early 50's) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 1-70 years of age (95% by early 50's) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3564. en:onset 10-20 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 10-20 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3565. en:onset 13 to 63 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 13 to 63 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3566. en:onset 13-15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 13-15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3567. en:onset 14 months to 4 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 14 months to 4 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3568. en:onset 2-4 years of age in iia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 2-4 years of age in iia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3569. en:onset 20-55 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 20-55 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3570. en:onset 23 to 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 23 to 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3571. en:onset 3 months of age up to 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 3 months of age up to 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3572. en:onset 30-40 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 30-40 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3573. en:onset 3rd to 4th decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 3rd to 4th decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3574. en:onset 5 to 10 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 5 to 10 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3575. en:onset 5 to 7 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 5 to 7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3576. en:onset 5-30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 5-30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3577. en:onset 50 to 65 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 50 to 65 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3578. en:onset 6 months to 2.5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 6 months to 2.5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3579. en:onset 6 to 12 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 6 to 12 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3580. en:onset 6 to 18 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 6 to 18 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3581. en:onset 6 to 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 6 to 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3582. en:onset 6-13 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 6-13 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3583. en:onset 7 to 15 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 7 to 15 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3584. en:onset 70-90 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 70-90 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3585. en:onset 8-20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset 8-20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3586. en:onset <30 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset <30 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3587. en:onset about 6 months of age after normal growth and development in the first few months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset about 6 months of age after normal growth and development in the first few months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3588. en:onset after age 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset after age 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3589. en:onset after age 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset after age 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3590. en:onset after puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset after puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3591. en:onset after third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset after third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3592. en:onset age 14-28 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset age 14-28 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3593. en:onset age 15-25 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset age 15-25 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3594. en:onset age 2 to 7 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset age 2 to 7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3595. en:onset age 20 to 51 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset age 20 to 51 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3596. en:onset age 32 to 45 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset age 32 to 45 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3597. en:onset ages 2 to 14 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ages 2 to 14 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3598. en:onset and diagnosis may occur later (after age 20 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset and diagnosis may occur later (after age 20 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3599. en:onset around adolescence in males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset around adolescence in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3600. en:onset around age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset around age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3601. en:onset around puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset around puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3602. en:onset as neonate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset as neonate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3603. en:onset at 2 to 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 2 to 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3604. en:onset at 2 to 4 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 2 to 4 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3605. en:onset at 4 to 10 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 4 to 10 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3606. en:onset at 4 to 7 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 4 to 7 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3607. en:onset at 4 to 9 weeks of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 4 to 9 weeks of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3608. en:onset at 4 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 4 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3609. en:onset at 5-24 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 5-24 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3610. en:onset at 6-36 hours of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 6-36 hours of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3611. en:onset at 6-9 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at 6-9 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3612. en:onset at age 10 to 14 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at age 10 to 14 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3613. en:onset at age 3-5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at age 3-5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3614. en:onset at age 36 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at age 36 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3615. en:onset at age 5 to 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at age 5 to 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3616. en:onset at age 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at age 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3617. en:onset at birth or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at birth or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3618. en:onset at birth or early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at birth or early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3619. en:onset at birth or in first days or life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at birth or in first days or life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3620. en:onset at birth or in first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at birth or in first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3621. en:onset at day 1 of life has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at day 1 of life has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3622. en:onset at early age, associated with sudden death in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at early age, associated with sudden death in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3623. en:onset at or soon after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset at or soon after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3624. en:onset before 10 years of age in all patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before 10 years of age in all patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3625. en:onset before 18 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before 18 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3626. en:onset before 50 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before 50 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3627. en:onset before adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3628. en:onset before age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3629. en:onset before age 20 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before age 20 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3630. en:onset before age 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before age 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3631. en:onset before age 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before age 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3632. en:onset before age 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before age 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3633. en:onset before age 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before age 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3634. en:onset before age 5 years in the absence of instruction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset before age 5 years in the absence of instruction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3635. en:onset between 1-3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 1-3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3636. en:onset between 10 and 20 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 10 and 20 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3637. en:onset between 12 and 30 years (average 22) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 12 and 30 years (average 22) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3638. en:onset between 13 to 37 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 13 to 37 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3639. en:onset between 15 and 27 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 15 and 27 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3640. en:onset between 18 and 65 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 18 and 65 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3641. en:onset between 2 and 4 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 2 and 4 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3642. en:onset between 2 to 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 2 to 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3643. en:onset between 2-5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 2-5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3644. en:onset between 28 and 42 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 28 and 42 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3645. en:onset between 28-32 weeks of gestation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 28-32 weeks of gestation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3646. en:onset between 3 and 11 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 3 and 11 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3647. en:onset between 3 and 6 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 3 and 6 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3648. en:onset between 3 and 8 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 3 and 8 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3649. en:onset between 34 and 51 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 34 and 51 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3650. en:onset between 35-43 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 35-43 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3651. en:onset between 5 and 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 5 and 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3652. en:onset between 5 to 28 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 5 to 28 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3653. en:onset between 6 and 12 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 6 and 12 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3654. en:onset between 6 and 14 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 6 and 14 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3655. en:onset between 6 and 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 6 and 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3656. en:onset between 6 and 16 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 6 and 16 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3657. en:onset between 6 and 9 months after normal early development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 6 and 9 months after normal early development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3658. en:onset between 7 and 18 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 7 and 18 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3659. en:onset between 7 and 27 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 7 and 27 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3660. en:onset between 8 and 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 8 and 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3661. en:onset between 9 and 16 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between 9 and 16 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3662. en:onset between age 2 and 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between age 2 and 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3663. en:onset between age 30-50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between age 30-50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3664. en:onset between age 4 to 7 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between age 4 to 7 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3665. en:onset between ages 1 to 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between ages 1 to 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3666. en:onset between ages 10 and 25 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between ages 10 and 25 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3667. en:onset between ages 12 and 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between ages 12 and 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3668. en:onset between ages 16-55 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between ages 16-55 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3669. en:onset between ages 2 and 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between ages 2 and 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3670. en:onset between ages 5 and 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between ages 5 and 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3671. en:onset between birth and 3 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between birth and 3 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3672. en:onset between second to sixth decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between second to sixth decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3673. en:onset between the second and sixth decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset between the second and sixth decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3674. en:onset beyond the second year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset beyond the second year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3675. en:onset bimodal, ages 16-22 and ages 57-60 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset bimodal, ages 16-22 and ages 57-60 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3676. en:onset birth to 6 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset birth to 6 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3677. en:onset birth to early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset birth to early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3678. en:onset birth to early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset birth to early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3679. en:onset by 1 year of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset by 1 year of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3680. en:onset by 3 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset by 3 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3681. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3682. en:onset by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3683. en:onset day of life 1-10 in infants fed lactose-containing milk --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset day of life 1-10 in infants fed lactose-containing milk | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3684. en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3685. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3686. en:onset early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3687. en:onset early in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset early in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3688. en:onset first to seventh decade with 30 to 40 year mode --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset first to seventh decade with 30 to 40 year mode | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3689. en:onset from birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset from birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3690. en:onset from first to third decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset from first to third decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3691. en:onset in 1st to 3rd decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in 1st to 3rd decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3692. en:onset in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3693. en:onset in adolescence or adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in adolescence or adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3694. en:onset in adolescence or adulthood has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in adolescence or adulthood has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3695. en:onset in adolescence or young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in adolescence or young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3696. en:onset in adolescence or young adulthood has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in adolescence or young adulthood has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3697. en:onset in adolescence to early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in adolescence to early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3698. en:onset in adulthood (third to fourth decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in adulthood (third to fourth decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3699. en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3700. en:onset in childhood (3 to 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (3 to 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3701. en:onset in childhood (5 to 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (5 to 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3702. en:onset in childhood (6-7 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (6-7 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3703. en:onset in childhood (ages 1.5 to 7 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (ages 1.5 to 7 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3704. en:onset in childhood (later than in antenatal bartter syndrome 241200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (later than in antenatal bartter syndrome 241200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3705. en:onset in childhood (mean 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (mean 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3706. en:onset in childhood (mean age 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (mean age 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3707. en:onset in childhood (range 0.5 to 7 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range 0.5 to 7 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3708. en:onset in childhood (range 1 to 12 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range 1 to 12 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3709. en:onset in childhood (range 1 to 9 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range 1 to 9 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3710. en:onset in childhood (range 2 to 16 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range 2 to 16 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3711. en:onset in childhood (range 4 to 12 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range 4 to 12 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3712. en:onset in childhood (range birth to 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range birth to 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3713. en:onset in childhood (range infancy to 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range infancy to 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3714. en:onset in childhood (range infancy to 14 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (range infancy to 14 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3715. en:onset in childhood (usually before age 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood (usually before age 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3716. en:onset in childhood of blistering and pigmentary changes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood of blistering and pigmentary changes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3717. en:onset in childhood or adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3718. en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3719. en:onset in childhood or adolescence (median age of 9 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or adolescence (median age of 9 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3720. en:onset in childhood or adolescence (range 6 to 15 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or adolescence (range 6 to 15 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3721. en:onset in childhood or adolescence in most patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or adolescence in most patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3722. en:onset in childhood or as young adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or as young adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3723. en:onset in childhood or early adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or early adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3724. en:onset in childhood or early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3725. en:onset in childhood or second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3726. en:onset in childhood or teenage years (7 to 16 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or teenage years (7 to 16 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3727. en:onset in childhood or young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3728. en:onset in childhood or youth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood or youth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3729. en:onset in childhood with exacerbation during puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood with exacerbation during puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3730. en:onset in childhood, adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood, adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3731. en:onset in childhood, adolescence, and adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood, adolescence, and adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3732. en:onset in childhood, but most noticeable in mid-teens and early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in childhood, but most noticeable in mid-teens and early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3733. en:onset in early adulthood (average 26 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early adulthood (average 26 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3734. en:onset in early childhood (2-4 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood (2-4 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3735. en:onset in early childhood (4 to 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood (4 to 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3736. en:onset in early childhood (age 3) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood (age 3) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3737. en:onset in early childhood (infancy to 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood (infancy to 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3738. en:onset in early childhood (infancy to 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood (infancy to 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3739. en:onset in early childhood (infancy to age 7 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood (infancy to age 7 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3740. en:onset in early childhood after initial normal development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood after initial normal development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3741. en:onset in early childhood or adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood or adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3742. en:onset in early childhood to puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early childhood to puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3743. en:onset in early first decade, although some patients have onset at birth or early in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early first decade, although some patients have onset at birth or early in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3744. en:onset in early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3745. en:onset in early infancy (2 to 3 months of age) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early infancy (2 to 3 months of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3746. en:onset in early infancy, between 2 weeks and 3 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early infancy, between 2 weeks and 3 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3747. en:onset in early to late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early to late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3748. en:onset in early twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in early twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3749. en:onset in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in feet and legs (peroneal distribution) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3750. en:onset in females ranges from third to seventh decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in females ranges from third to seventh decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3751. en:onset in fifth or sixth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in fifth or sixth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3752. en:onset in fifties or sixties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in fifties or sixties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3753. en:onset in first 2 decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first 2 decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3754. en:onset in first 2 decades (range 6 to 15 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first 2 decades (range 6 to 15 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3755. en:onset in first 2 decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first 2 decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3756. en:onset in first 6 months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first 6 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3757. en:onset in first 8 weeks of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first 8 weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3758. en:onset in first and second decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first and second decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3759. en:onset in first days of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first days of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3760. en:onset in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3761. en:onset in first decade (average 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade (average 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3762. en:onset in first decade (birth to 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade (birth to 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3763. en:onset in first decade (birth to age 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade (birth to age 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3764. en:onset in first decade (e.g. 180380.0028) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade (e.g. 180380.0028) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3765. en:onset in first decade (range 1 to 7 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade (range 1 to 7 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3766. en:onset in first decade (range 1 to 9 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade (range 1 to 9 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3767. en:onset in first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3768. en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3769. en:onset in first decades (males) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first decades (males) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3770. en:onset in first few years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first few years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3771. en:onset in first hours to days of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first hours to days of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3772. en:onset in first month of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first month of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3773. en:onset in first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3774. en:onset in first months or years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first months or years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3775. en:onset in first or second decade (range 4 to 13 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first or second decade (range 4 to 13 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3776. en:onset in first or second decade (range infancy to teenage years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first or second decade (range infancy to teenage years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3777. en:onset in first or second decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first or second decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3778. en:onset in first weeks or months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first weeks or months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3779. en:onset in first weeks to months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in first weeks to months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3780. en:onset in fourth and fifth decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in fourth and fifth decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3781. en:onset in fourth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in fourth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3782. en:onset in fourth to fifth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in fourth to fifth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3783. en:onset in fourth to sixth decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in fourth to sixth decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3784. en:onset in infancy (1-2 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy (1-2 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3785. en:onset in infancy (3 months on) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy (3 months on) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3786. en:onset in infancy (3 to 7 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy (3 to 7 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3787. en:onset in infancy (average 4 months, but may be earlier) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy (average 4 months, but may be earlier) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3788. en:onset in infancy (first hours to weeks of life) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy (first hours to weeks of life) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3789. en:onset in infancy (first year of life) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy (first year of life) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3790. en:onset in infancy after normal birth and neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy after normal birth and neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3791. en:onset in infancy after weaning --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy after weaning | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3792. en:onset in infancy after weaning from being breast-fed --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy after weaning from being breast-fed | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3793. en:onset in infancy and early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy and early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3794. en:onset in infancy and third decade had been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy and third decade had been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3795. en:onset in infancy of acute hypoglycemic episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy of acute hypoglycemic episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3796. en:onset in infancy or at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3797. en:onset in infancy or childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3798. en:onset in infancy or childhood (range 1 to 13 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or childhood (range 1 to 13 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3799. en:onset in infancy or childhood (range 1 to 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or childhood (range 1 to 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3800. en:onset in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3801. en:onset in infancy or early childhood (before age 3 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or early childhood (before age 3 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3802. en:onset in infancy or early childhood (birth to 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or early childhood (birth to 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3803. en:onset in infancy or first years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or first years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3804. en:onset in infancy or in the first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or in the first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3805. en:onset in infancy or late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy or late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3806. en:onset in infancy up to 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy up to 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3807. en:onset in infancy was reported in 1 family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy was reported in 1 family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3808. en:onset in infancy, but may not be diagnosed until later in mild cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in infancy, but may not be diagnosed until later in mild cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3809. en:onset in late adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3810. en:onset in late adulthood (44 to 73 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late adulthood (44 to 73 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3811. en:onset in late childhood (after age 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late childhood (after age 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3812. en:onset in late childhood or adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late childhood or adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3813. en:onset in late childhood or early teens --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late childhood or early teens | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3814. en:onset in late childhood/adolescence (approximately 15 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late childhood/adolescence (approximately 15 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3815. en:onset in late infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3816. en:onset in late teens to early forties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late teens to early forties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3817. en:onset in late teens to twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late teens to twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3818. en:onset in late twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3819. en:onset in late twenties to thirties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late twenties to thirties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3820. en:onset in late-childhood to early adulthood (12 to 20 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in late-childhood to early adulthood (12 to 20 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3821. en:onset in lower limbs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in lower limbs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3822. en:onset in males in first to third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in males in first to third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3823. en:onset in mid to late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in mid to late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3824. en:onset in mid-adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in mid-adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3825. en:onset in mid-forties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in mid-forties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3826. en:onset in middle age (44 to 60 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in middle age (44 to 60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3827. en:onset in neonatal period or before age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in neonatal period or before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3828. en:onset in neonatal period or early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in neonatal period or early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3829. en:onset in neonatal period or infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in neonatal period or infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3830. en:onset in newborns or infants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in newborns or infants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3831. en:onset in second and third decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second and third decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3832. en:onset in second and third decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second and third decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3833. en:onset in second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3834. en:onset in second decade of life progresses from mild to profound hearing loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second decade of life progresses from mild to profound hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3835. en:onset in second decade or as young adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second decade or as young adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3836. en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3837. en:onset in second decade, but sometimes earlier --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second decade, but sometimes earlier | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3838. en:onset in second half of the first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second half of the first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3839. en:onset in second or third decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second or third decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3840. en:onset in second to fifth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second to fifth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3841. en:onset in second to fourth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second to fourth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3842. en:onset in second to third decades (postlingual) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in second to third decades (postlingual) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3843. en:onset in teenage or young adult years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in teenage or young adult years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3844. en:onset in teenage years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in teenage years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3845. en:onset in teens has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in teens has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3846. en:onset in teens or early twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in teens or early twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3847. en:onset in teens or young adulthood (range 13 to 45 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in teens or young adulthood (range 13 to 45 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3848. en:onset in teens to 20's --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in teens to 20's | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3849. en:onset in teens to late twenties (range 14 to 44 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in teens to late twenties (range 14 to 44 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3850. en:onset in the 3rd decade of life or later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the 3rd decade of life or later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3851. en:onset in the first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3852. en:onset in the first decade (range birth to 8 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the first decade (range birth to 8 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3853. en:onset in the first few months of life patients may need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3854. en:onset in the first hours or days of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the first hours or days of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3855. en:onset in the first months of life (3 to 7 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the first months of life (3 to 7 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3856. en:onset in the first or second decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the first or second decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3857. en:onset in the fourth to sixth decades (mean 40 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the fourth to sixth decades (mean 40 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3858. en:onset in the neonatal period (0-38 days) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the neonatal period (0-38 days) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3859. en:onset in the perinatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the perinatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3860. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3861. en:onset in the second or third decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the second or third decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3862. en:onset in the second to fourth decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the second to fourth decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3863. en:onset in the sixth or seventh decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in the sixth or seventh decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3864. en:onset in third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3865. en:onset in third or fourth decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in third or fourth decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3866. en:onset in third to fifth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in third to fifth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3867. en:onset in third to fourth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in third to fourth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3868. en:onset in utero in severely affected patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in utero in severely affected patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3869. en:onset in utero or at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in utero or at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3870. en:onset in utero or early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in utero or early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3871. en:onset in utero or in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in utero or in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3872. en:onset in utero, infancy, or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in utero, infancy, or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3873. en:onset in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3874. en:onset in young adulthood (range 18 to 23 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in young adulthood (range 18 to 23 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3875. en:onset in young adulthood or adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset in young adulthood or adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3876. en:onset is usually in childhood or adolescence (2 to 18 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset is usually in childhood or adolescence (2 to 18 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3877. en:onset late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3878. en:onset may also occur in early infancy, adolescence, or adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset may also occur in early infancy, adolescence, or adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3879. en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3880. en:onset may be prelingual or in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset may be prelingual or in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3881. en:onset may occur in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset may occur in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3882. en:onset mid to late adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset mid to late adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3883. en:onset occurs earlier in males than females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset occurs earlier in males than females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3884. en:onset of abnormal eye movements in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of abnormal eye movements in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3885. en:onset of acanthosis nigricans correlates with onset of diabetes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of acanthosis nigricans correlates with onset of diabetes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3886. en:onset of acanthosis nigricans in childhood or by puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of acanthosis nigricans in childhood or by puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3887. en:onset of achalasia in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of achalasia in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3888. en:onset of acne in adolescence, persists into adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of acne in adolescence, persists into adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3889. en:onset of acute encephalopathic attacks in childhood (3 to 7 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3890. en:onset of alopecia in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of alopecia in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3891. en:onset of arthritis in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of arthritis in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3892. en:onset of ataxia and neuropathy in early twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of ataxia and neuropathy in early twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3893. en:onset of ataxia between 1 and 3 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of ataxia between 1 and 3 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3894. en:onset of ataxia in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of ataxia in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3895. en:onset of ataxia in early childhood (range 15 months to 3 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of ataxia in early childhood (range 15 months to 3 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3896. en:onset of ataxia in the fifties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of ataxia in the fifties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3897. en:onset of autoinflammation in infancy or first few years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of autoinflammation in infancy or first few years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3898. en:onset of bleeding in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of bleeding in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3899. en:onset of bleeding symptoms in childhood or young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of bleeding symptoms in childhood or young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3900. en:onset of blistering skin in infancy with improvement over time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of blistering skin in infancy with improvement over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3901. en:onset of bone disease in second decade (range 18-44 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of bone disease in second decade (range 18-44 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3902. en:onset of bone fragility in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of bone fragility in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3903. en:onset of calf hypotrophy may occur earlier --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of calf hypotrophy may occur earlier | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3904. en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3905. en:onset of cardiac symptoms in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of cardiac symptoms in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3906. en:onset of cardiomyopathy may occur several months after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of cardiomyopathy may occur several months after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3907. en:onset of cataracts in late adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of cataracts in late adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3908. en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3909. en:onset of choreoathetosis in childhood or young adult (6-23 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of choreoathetosis in childhood or young adult (6-23 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3910. en:onset of choroideremia in second to third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of choroideremia in second to third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3911. en:onset of chronic progressive polyneuropathy in late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of chronic progressive polyneuropathy in late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3912. en:onset of clinical features around puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of clinical features around puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3913. en:onset of contractures in utero --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of contractures in utero | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3914. en:onset of cough in early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of cough in early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3915. en:onset of crises in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of crises in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3916. en:onset of deafness and diabetes in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of deafness and diabetes in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3917. en:onset of deafness in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of deafness in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3918. en:onset of dementia in the thirties or forties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of dementia in the thirties or forties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3919. en:onset of diabetes at less than 25 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of diabetes at less than 25 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3920. en:onset of diabetes in neonatal period/ early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of diabetes in neonatal period/ early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3921. en:onset of diabetes in teenage years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of diabetes in teenage years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3922. en:onset of dilated cardiomyopathy less than 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of dilated cardiomyopathy less than 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3923. en:onset of disease 3-30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease 3-30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3924. en:onset of disease 3-8 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease 3-8 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3925. en:onset of disease 7 months to 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease 7 months to 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3926. en:onset of disease after fourth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease after fourth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3927. en:onset of disease around 10 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease around 10 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3928. en:onset of disease before 7 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease before 7 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3929. en:onset of disease between 25 and 40 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease between 25 and 40 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3930. en:onset of disease in fourth or fifth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease in fourth or fifth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3931. en:onset of disease in late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease in late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3932. en:onset of disease within the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of disease within the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3933. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3934. en:onset of dysmorphic features and developmental delay in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of dysmorphic features and developmental delay in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3935. en:onset of dystonia at 12 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of dystonia at 12 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3936. en:onset of dystonia is in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of dystonia is in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3937. en:onset of edema in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of edema in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3938. en:onset of encephalopathy between ages 2 and 3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of encephalopathy between ages 2 and 3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3939. en:onset of end-stage renal disease 15 to 20 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of end-stage renal disease 15 to 20 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3940. en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3941. en:onset of episodic liver failure in first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of episodic liver failure in first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3942. en:onset of essential tremor between 16 and 44 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of essential tremor between 16 and 44 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3943. en:onset of febrile seizures typically between 6 months and 6 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of febrile seizures typically between 6 months and 6 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3944. en:onset of fracture usually when child begins to walk --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of fracture usually when child begins to walk | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3945. en:onset of fractures 4-18 months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of fractures 4-18 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3946. en:onset of fractures in infancy to early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of fractures in infancy to early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3947. en:onset of gait abnormalities at 8 to 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of gait abnormalities at 8 to 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3948. en:onset of gastrointestinal tumors typically occurs in the second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of gastrointestinal tumors typically occurs in the second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3949. en:onset of gaze palsy at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of gaze palsy at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3950. en:onset of hand involvement at 14 to 60 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hand involvement at 14 to 60 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3951. en:onset of hearing loss in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3952. en:onset of hearing loss in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3953. en:onset of hearing loss in childhood (range 7 to 13 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in childhood (range 7 to 13 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3954. en:onset of hearing loss in first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3955. en:onset of hearing loss in first or second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in first or second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3956. en:onset of hearing loss in late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3957. en:onset of hearing loss in late childhood or adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in late childhood or adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3958. en:onset of hearing loss in second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss in second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3959. en:onset of hearing loss prior to or during adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss prior to or during adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3960. en:onset of hearing loss ranges from childhood to young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hearing loss ranges from childhood to young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3961. en:onset of hematologic or cns tumors in the first or second decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hematologic or cns tumors in the first or second decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3962. en:onset of hemolytic anemia shortly after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hemolytic anemia shortly after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3963. en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3964. en:onset of hyperuricemia or gout in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hyperuricemia or gout in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3965. en:onset of hypoglycemia and hyperinsulinism in the neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3966. en:onset of illness often associated with acute infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of illness often associated with acute infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3967. en:onset of insulin resistance may occur in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of insulin resistance may occur in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3968. en:onset of joint contractures later in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of joint contractures later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3969. en:onset of joint pain in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of joint pain in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3970. en:onset of kyphosis in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of kyphosis in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3971. en:onset of lesions may occur in early childhood or as late as the seventh decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of lesions may occur in early childhood or as late as the seventh decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3972. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3973. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3974. en:onset of linear striations between 5 months and 6 years (only in affected females) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of linear striations between 5 months and 6 years (only in affected females) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3975. en:onset of lipodystrophy in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of lipodystrophy in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3976. en:onset of lipodystrophy later in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of lipodystrophy later in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3977. en:onset of liver involvement in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of liver involvement in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3978. en:onset of lymphedema before puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of lymphedema before puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3979. en:onset of macrocephaly in the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of macrocephaly in the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3980. en:onset of major clinical features in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of major clinical features in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3981. en:onset of malignancy can occur throughout life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of malignancy can occur throughout life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3982. en:onset of mental impairment in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of mental impairment in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3983. en:onset of mild symptoms in first or second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of mild symptoms in first or second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3984. en:onset of motor disturbances in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of motor disturbances in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3985. en:onset of muscle weakness around age 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of muscle weakness around age 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3986. en:onset of muscle weakness in early childhood, usually before age 10 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of muscle weakness in early childhood, usually before age 10 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3987. en:onset of muscle weakness in fifth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of muscle weakness in fifth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3988. en:onset of muscle weakness in late adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of muscle weakness in late adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3989. en:onset of myoclonus later in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of myoclonus later in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3990. en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3991. en:onset of neurologic disease in early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of neurologic disease in early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3992. en:onset of neurologic events can occur between 4 and 35 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of neurologic events can occur between 4 and 35 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3993. en:onset of neurologic features is variable, even within the same family (range early childhood to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3994. en:onset of neurologic symptoms often by 30 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of neurologic symptoms often by 30 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3995. en:onset of neuromuscular symptoms between 6 months and 1 year of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of neuromuscular symptoms between 6 months and 1 year of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3996. en:onset of normal pressure hydrocephalus after age 65 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of normal pressure hydrocephalus after age 65 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3997. en:onset of optic atrophy in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of optic atrophy in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3998. en:onset of optic atrophy in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of optic atrophy in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  3999. en:onset of optic atrophy in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of optic atrophy in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4000. en:onset of optic neuropathy is usually in early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of optic neuropathy is usually in early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4001. en:onset of osteoarthritis in teens to early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of osteoarthritis in teens to early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4002. en:onset of other symptoms in adolescence or early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of other symptoms in adolescence or early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4003. en:onset of overgrowth in second to third month of life (in some cases) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of overgrowth in second to third month of life (in some cases) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4004. en:onset of palmoplantar hyperkeratosis 7-8 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of palmoplantar hyperkeratosis 7-8 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4005. en:onset of parkinsonism in early twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of parkinsonism in early twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4006. en:onset of parkinsonism in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of parkinsonism in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4007. en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4008. en:onset of peripheral neuropathy in the first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of peripheral neuropathy in the first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4009. en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4010. en:onset of peripheral neuropathy ranges from childhood to mid-adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4011. en:onset of progressive spastic paraplegia in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of progressive spastic paraplegia in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4012. en:onset of proteinuria in the second to fourth decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of proteinuria in the second to fourth decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4013. en:onset of proteinuria in the third to fourth decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of proteinuria in the third to fourth decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4014. en:onset of renal dysfunction in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of renal dysfunction in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4015. en:onset of renal failure in adulthood (range twenties to fifties) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of renal failure in adulthood (range twenties to fifties) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4016. en:onset of scoliosis as early as 2 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of scoliosis as early as 2 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4017. en:onset of seizures around 7 to 12 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures around 7 to 12 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4018. en:onset of seizures at 2-8 days of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures at 2-8 days of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4019. en:onset of seizures before age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures before age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4020. en:onset of seizures between 2 and 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures between 2 and 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4021. en:onset of seizures between 8 and 11 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures between 8 and 11 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4022. en:onset of seizures between 9 and 12 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures between 9 and 12 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4023. en:onset of seizures in first 6 months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures in first 6 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4024. en:onset of seizures in first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures in first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4025. en:onset of seizures in first months of life (usually 4 to 7 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures in first months of life (usually 4 to 7 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4026. en:onset of seizures in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4027. en:onset of seizures in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4028. en:onset of seizures in later childhood (5 to 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures in later childhood (5 to 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4029. en:onset of seizures ranges from 2 to 11 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of seizures ranges from 2 to 11 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4030. en:onset of sensory neuropathy in later adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of sensory neuropathy in later adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4031. en:onset of skin lesions at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of skin lesions at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4032. en:onset of skin manifestations from birth to puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of skin manifestations from birth to puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4033. en:onset of sleep terrors between age 4 and 12 years old --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of sleep terrors between age 4 and 12 years old | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4034. en:onset of sleepwalking between 4 and 8 years old --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of sleepwalking between 4 and 8 years old | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4035. en:onset of slowly progressive spastic paraplegia in first or second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of slowly progressive spastic paraplegia in first or second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4036. en:onset of spastic paraplegia in first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of spastic paraplegia in first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4037. en:onset of spasticity by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of spasticity by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4038. en:onset of spasticity in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of spasticity in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4039. en:onset of symptoms 2-12 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms 2-12 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4040. en:onset of symptoms 2-4 weeks of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms 2-4 weeks of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4041. en:onset of symptoms 2-6 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms 2-6 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4042. en:onset of symptoms after age 5 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms after age 5 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4043. en:onset of symptoms age 5-30 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms age 5-30 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4044. en:onset of symptoms at 2-4 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms at 2-4 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4045. en:onset of symptoms between ages 3-8 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms between ages 3-8 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4046. en:onset of symptoms in adolescence or early adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in adolescence or early adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4047. en:onset of symptoms in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4048. en:onset of symptoms in childhood with stiff, painful joints --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in childhood with stiff, painful joints | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4049. en:onset of symptoms in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4050. en:onset of symptoms in fifth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in fifth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4051. en:onset of symptoms in first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4052. en:onset of symptoms in first or second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in first or second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4053. en:onset of symptoms in second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4054. en:onset of symptoms in second or third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in second or third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4055. en:onset of symptoms in second or third decade (mean 25 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in second or third decade (mean 25 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4056. en:onset of symptoms in second to fifth decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in second to fifth decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4057. en:onset of symptoms in second to third decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in second to third decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4058. en:onset of symptoms in the fourth to sixth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in the fourth to sixth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4059. en:onset of symptoms in third to fourth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in third to fourth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4060. en:onset of symptoms in third to sixth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms in third to sixth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4061. en:onset of symptoms less than one year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms less than one year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4062. en:onset of symptoms often associated with nonspecific febrile illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms often associated with nonspecific febrile illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4063. en:onset of symptoms usually between 12-15 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms usually between 12-15 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4064. en:onset of symptoms usually in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms usually in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4065. en:onset of symptoms within the first 2 decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of symptoms within the first 2 decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4066. en:onset of thrombocytopenia in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of thrombocytopenia in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4067. en:onset of thrombosis by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of thrombosis by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4068. en:onset of tremor usually before onset of seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of tremor usually before onset of seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4069. en:onset of tumors usually in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of tumors usually in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4070. en:onset of vision loss in young adulthood (<20 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of vision loss in young adulthood (<20 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4071. en:onset of visual loss in childhood (around age 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of visual loss in childhood (around age 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4072. en:onset of visual loss in the first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of visual loss in the first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4073. en:onset of visual loss in the first or second decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset of visual loss in the first or second decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4074. en:onset often begins in childhood or adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset often begins in childhood or adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4075. en:onset often in late adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset often in late adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4076. en:onset precipitated by fasting or illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset precipitated by fasting or illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4077. en:onset prenatally or at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset prenatally or at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4078. en:onset ranges from 2 days to 7 months (most at 2-3 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from 2 days to 7 months (most at 2-3 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4079. en:onset ranges from birth to age 4 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from birth to age 4 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4080. en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4081. en:onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from childhood to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4082. en:onset ranges from childhood to young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from childhood to young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4083. en:onset ranges from early childhood to adulthood (usually before age 15) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from early childhood to adulthood (usually before age 15) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4084. en:onset ranges from first to third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from first to third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4085. en:onset ranges from young adulthood to sixties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset ranges from young adulthood to sixties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4086. en:onset second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4087. en:onset soon after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset soon after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4088. en:onset soon after birth or within the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset soon after birth or within the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4089. en:onset typically in childhood although onset in late adolescence or early adulthood has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4090. en:onset usually after age 40 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually after age 40 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4091. en:onset usually after viral-like infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually after viral-like infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4092. en:onset usually associated with febrile illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually associated with febrile illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4093. en:onset usually at 2 to 6 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually at 2 to 6 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4094. en:onset usually at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4095. en:onset usually at birth, but may occur later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually at birth, but may occur later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4096. en:onset usually before age 10 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually before age 10 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4097. en:onset usually before age 40 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually before age 40 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4098. en:onset usually before age 40 years (range 15 to 55) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually before age 40 years (range 15 to 55) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4099. en:onset usually between 30 and 50 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually between 30 and 50 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4100. en:onset usually by age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually by age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4101. en:onset usually in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4102. en:onset usually in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4103. en:onset usually in adulthood although childhood onset has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in adulthood although childhood onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4104. en:onset usually in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4105. en:onset usually in childhood (1 to 9 years of age) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood (1 to 9 years of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4106. en:onset usually in childhood (infancy to teens) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood (infancy to teens) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4107. en:onset usually in childhood (range 17 months to 39 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood (range 17 months to 39 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4108. en:onset usually in childhood (range 6 months to 16 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood (range 6 months to 16 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4109. en:onset usually in childhood (range infancy to late childhood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood (range infancy to late childhood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4110. en:onset usually in childhood after bcg vaccination --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in childhood after bcg vaccination | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4111. en:onset usually in early adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in early adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4112. en:onset usually in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4113. en:onset usually in early childhood (but can range from infancy to adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in early childhood (but can range from infancy to adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4114. en:onset usually in early childhood, although ranges from birth to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in early childhood, although ranges from birth to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4115. en:onset usually in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4116. en:onset usually in first month of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in first month of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4117. en:onset usually in first or second decade (mean 10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in first or second decade (mean 10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4118. en:onset usually in first or second decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in first or second decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4119. en:onset usually in first to third decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in first to third decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4120. en:onset usually in first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4121. en:onset usually in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4122. en:onset usually in infancy although later onset may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in infancy although later onset may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4123. en:onset usually in infancy or childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4124. en:onset usually in infancy or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in infancy or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4125. en:onset usually in infancy or early childhood (9 months to 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in infancy or early childhood (9 months to 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4126. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4127. en:onset usually in late adolescence or early adulthood (range 15 to 45 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4128. en:onset usually in late infancy or childhood (1 to 6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in late infancy or childhood (1 to 6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4129. en:onset usually in mid-teens, average 15 years (range 2 to 20 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4130. en:onset usually in second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4131. en:onset usually in second decade (may occur earlier) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in second decade (may occur earlier) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4132. en:onset usually in second decade of life, although earlier and later onset have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in second decade of life, although earlier and later onset have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4133. en:onset usually in second or third decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in second or third decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4134. en:onset usually in the first 4 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in the first 4 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4135. en:onset usually in the first decade (range 0.8 to 5 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in the first decade (range 0.8 to 5 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4136. en:onset usually in the neck --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in the neck | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4137. en:onset usually in the neonatal period although later onset has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in the neonatal period although later onset has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4138. en:onset usually in the third decade (range 11 to 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in the third decade (range 11 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4139. en:onset usually in third decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in third decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4140. en:onset usually in third or fourth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in third or fourth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4141. en:onset usually in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4142. en:onset usually within first weeks of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset usually within first weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4143. en:onset within first 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset within first 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4144. en:onset within first 2 years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset within first 2 years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4145. en:onset within first 3 months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset within first 3 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4146. en:onset within first 6 months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset within first 6 months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4147. en:onset within first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset within first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4148. en:onset within the first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:onset within the first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4149. en:ophthalmologic signs onset in first to sixth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ophthalmologic signs onset in first to sixth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4150. en:opportunistic infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:opportunistic infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4151. en:oral contraceptives may also cause symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:oral contraceptives may also cause symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4152. en:oral supplementation with ubiquinone does not result in major clinical improvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:oral supplementation with ubiquinone does not result in major clinical improvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4153. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4154. en:ossification evident 2-8 months following swelling --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ossification evident 2-8 months following swelling | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4155. en:ossification occurs spontaneously during childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ossification occurs spontaneously during childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4156. en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4157. en:other half show head circumference more retarded than height --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:other half show head circumference more retarded than height | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4158. en:other muscle become involved about 5 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:other muscle become involved about 5 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4159. en:other tumors may also occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:other tumors may also occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4160. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4161. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4162. en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4163. en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4164. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4165. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4166. en:overall course less severe compared to patients with cfh (134370) mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overall course less severe compared to patients with cfh (134370) mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4167. en:overall prevalence is between 0.5 and 14 per 100,000 people per year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4168. en:overlap with obsessive-compulsive disorder (ocd, 164230) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overlap with obsessive-compulsive disorder (ocd, 164230) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4169. en:overlap with tourette syndrome (137580) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overlap with tourette syndrome (137580) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4170. en:overlapping clinical spectrum and allelic to masa syndrome (303350) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4171. en:overlapping features of digeorge syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overlapping features of digeorge syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4172. en:overlapping features with barber-say syndrome (209885) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overlapping features with barber-say syndrome (209885) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4173. en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4174. en:pain in lower limb --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pain in lower limb | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4175. en:pain is noted to feel cold --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pain is noted to feel cold | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4176. en:pain is relieved by antiinflammatory medication --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pain is relieved by antiinflammatory medication | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4177. en:pain most commonly affects the trunk, extremities, pelvic region, buttocks --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4178. en:pain tends to occur later in the day --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pain tends to occur later in the day | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4179. en:painful cramping following ischemic exercise test --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:painful cramping following ischemic exercise test | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4180. en:pancreatic endocrine abnormalities reported in 1 family only --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pancreatic endocrine abnormalities reported in 1 family only | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4181. en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4182. en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4183. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4184. en:part of 'dent disease complex' --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:part of 'dent disease complex' | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4185. en:part of 'dent disease complex' (see 300009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:part of 'dent disease complex' (see 300009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4186. en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4187. en:partial factor viii deficiency in heterozygous carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:partial factor viii deficiency in heterozygous carriers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4188. en:partial laminin alpha-2 deficiency results in milder phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:partial laminin alpha-2 deficiency results in milder phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4189. en:partial or absent response to steroid treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:partial or absent response to steroid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4190. en:partially responsive to laser treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:partially responsive to laser treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4191. en:paternal age effect --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:paternal age effect | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4192. en:paternal anticipation bias --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:paternal anticipation bias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4193. en:pathogenic alleles contain 52 to 86 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pathogenic alleles contain 52 to 86 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4194. en:pathogenic alleles contain 71 to 1,300 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pathogenic alleles contain 71 to 1,300 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4195. en:pathogenic alleles contain 75-11,000 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pathogenic alleles contain 75-11,000 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4196. en:pathogenic alleles contain greater than 41 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pathogenic alleles contain greater than 41 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4197. en:pathogenic alleles have 19 to 33 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pathogenic alleles have 19 to 33 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4198. en:pathogenic cag repeat length is 51 to 78 triplets --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pathogenic cag repeat length is 51 to 78 triplets | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4199. en:patient b had a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patient b had a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4200. en:patient satisfaction with healthcare delivery:score:pt:^patient:qn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4201. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4202. en:patient with truncating mutations are more likely to develop neurologic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patient with truncating mutations are more likely to develop neurologic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4203. en:patients achieve ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients achieve ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4204. en:patients are 46,xy individuals who may be phenotypically female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are 46,xy individuals who may be phenotypically female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4205. en:patients are born with normal head circumference --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are born with normal head circumference | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4206. en:patients are often asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are often asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4207. en:patients are often misdiagnosed with spherocytosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are often misdiagnosed with spherocytosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4208. en:patients are often of mediterranean origin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are often of mediterranean origin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4209. en:patients are prone to impaired thermoregulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are prone to impaired thermoregulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4210. en:patients are severely disabled as adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are severely disabled as adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4211. en:patients are susceptible to sepsis and dehydration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are susceptible to sepsis and dehydration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4212. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4213. en:patients become wheelchair-bound about 10 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients become wheelchair-bound about 10 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4214. en:patients become wheelchair-bound as adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients become wheelchair-bound as adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4215. en:patients between 30 and 60 years have discomfort with prolonged standing --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients between 30 and 60 years have discomfort with prolonged standing | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4216. en:patients can be divided into 2 groups based on whether typical hand anomalies are present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4217. en:patients can have als, ftd, or both --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients can have als, ftd, or both | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4218. en:patients can have multiple seizure types --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients can have multiple seizure types | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4219. en:patients develop acute symptoms under physiologic stress due to illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients develop acute symptoms under physiologic stress due to illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4220. en:patients develop aortic dissection with little or no aortic enlargement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients develop aortic dissection with little or no aortic enlargement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4221. en:patients develop multiple tumors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients develop multiple tumors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4222. en:patients die in infancy due to infectious complications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients die in infancy due to infectious complications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4223. en:patients do not exhibit ophthalmoplegia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients do not exhibit ophthalmoplegia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4224. en:patients do not exhibit skin pigmentation changes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients do not exhibit skin pigmentation changes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4225. en:patients do not have clinical hypothyroidism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients do not have clinical hypothyroidism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4226. en:patients do not have ectopia lentis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients do not have ectopia lentis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4227. en:patients exhibit no signs of ocular or cutaneous albinism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients exhibit no signs of ocular or cutaneous albinism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4228. en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4229. en:patients from 4 unrelated families have been reported (as of october 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients from 4 unrelated families have been reported (as of october 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4230. en:patients from old order amish community and turkey have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients from old order amish community and turkey have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4231. en:patients gradually develop tolerance to carbohydrates over time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients gradually develop tolerance to carbohydrates over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4232. en:patients have a distinctive shallow u-shaped audiogram --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients have a distinctive shallow u-shaped audiogram | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4233. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4234. en:patients have no abnormalities of hair, teeth, or bone --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients have no abnormalities of hair, teeth, or bone | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4235. en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4236. en:patients have normal levels of vitamin a, beta-carotene, and zinc --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients have normal levels of vitamin a, beta-carotene, and zinc | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4237. en:patients have normal pituitary function --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients have normal pituitary function | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4238. en:patients have severe anemia requiring regular transfusions for normal activity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients have severe anemia requiring regular transfusions for normal activity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4239. en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4240. en:patients look as if they have protein deficiency or malnutrition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients look as if they have protein deficiency or malnutrition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4241. en:patients may be asymptomatic, but are at risk for metabolic decompensation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may be asymptomatic, but are at risk for metabolic decompensation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4242. en:patients may become totally dependent for all activities of daily living --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may become totally dependent for all activities of daily living | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4243. en:patients may become ventilator-dependent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may become ventilator-dependent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4244. en:patients may become wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4245. en:patients may become wheelchair-bound after about 12 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may become wheelchair-bound after about 12 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4246. en:patients may become wheelchair-bound as adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may become wheelchair-bound as adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4247. en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4248. en:patients may have benign course until late adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may have benign course until late adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4249. en:patients may have either dementia or motor neuron disease or both --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may have either dementia or motor neuron disease or both | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4250. en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4251. en:patients may have recurrent infections due to immunosuppressive therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may have recurrent infections due to immunosuppressive therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4252. en:patients may have seizures only, dyskinesia only, or both --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may have seizures only, dyskinesia only, or both | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4253. en:patients may or may not have dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may or may not have dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4254. en:patients may present with autoimmune features or primary immunodeficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may present with autoimmune features or primary immunodeficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4255. en:patients may present with either renal or neurologic symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may present with either renal or neurologic symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4256. en:patients may present with recurrent illnesses or infections, or shock --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may present with recurrent illnesses or infections, or shock | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4257. en:patients may require implantable cardioverter defibrillators --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may require implantable cardioverter defibrillators | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4258. en:patients may show both optic neuropathy and dystonia or only 1 disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may show both optic neuropathy and dystonia or only 1 disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4259. en:patients may show intermittent signs of improvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may show intermittent signs of improvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4260. en:patients may show normal development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients may show normal development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4261. en:patients need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients need lifelong total parenteral nutrition | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4262. en:patients need support with walking or are wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients need support with walking or are wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4263. en:patients of brazilian origin have a pure cerebellar atrophy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients of brazilian origin have a pure cerebellar atrophy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4264. en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4265. en:patients often become wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients often become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4266. en:patients often become wheelchair-bound 3 to 4 decades after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients often become wheelchair-bound 3 to 4 decades after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4267. en:patients often have a more severe and complicated phenotype in addition to peo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients often have a more severe and complicated phenotype in addition to peo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4268. en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4269. en:patients often nonambulatory by the mid-twenties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients often nonambulatory by the mid-twenties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4270. en:patients often require cardiac transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients often require cardiac transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4271. en:patients often require implantation of a pacemaker --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients often require implantation of a pacemaker | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4272. en:patients older than 60 years have severe degenerative arthritis in the feet --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients older than 60 years have severe degenerative arthritis in the feet | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4273. en:patients present at birth with respiratory distress or poor head control --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients present at birth with respiratory distress or poor head control | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4274. en:patients present with groin pain --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients present with groin pain | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4275. en:patients remain ambulatory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients remain ambulatory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4276. en:patients require achilles tendon lengthening in first or second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients require achilles tendon lengthening in first or second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4277. en:patients retain ambulation even after long disease course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients retain ambulation even after long disease course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4278. en:patients show sorbitol and glycerol intolerance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients show sorbitol and glycerol intolerance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4279. en:patients usually require total thyroidectomy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients usually require total thyroidectomy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4280. en:patients walk on tips of toes with dorsal foot deviated laterally --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients walk on tips of toes with dorsal foot deviated laterally | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4281. en:patients who acquire ability to walk may lose it --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients who acquire ability to walk may lose it | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4282. en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4283. en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4284. en:patients with adult onset present with psychiatric features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with adult onset present with psychiatric features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4285. en:patients with atypical form have milder disease, with onset in the first months of life and increased survival --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4286. en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4287. en:patients with contiguous gene deletion of 8q24 have more severe features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with contiguous gene deletion of 8q24 have more severe features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4288. en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4289. en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4290. en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4291. en:patients with homozygous mutations have a more severe disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with homozygous mutations have a more severe disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4292. en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4293. en:patients with later onset do not have dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with later onset do not have dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4294. en:patients with later onset have better prognosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with later onset have better prognosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4295. en:patients with longer disease duration show motor neuron involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with longer disease duration show motor neuron involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4296. en:patients with meb have less severe features and longer survival --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with meb have less severe features and longer survival | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4297. en:patients with meb may acquire ability to walk and a few words --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with meb may acquire ability to walk and a few words | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4298. en:patients with medication-resistant hypertension require bilateral adrenalectomy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with medication-resistant hypertension require bilateral adrenalectomy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4299. en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4300. en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4301. en:patients with mutation in the nhlrc1 gene have slightly longer survival --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with mutation in the nhlrc1 gene have slightly longer survival | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4302. en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4303. en:patients with null mutations have neonatal onset within 72 hours of birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with null mutations have neonatal onset within 72 hours of birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4304. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4305. en:patients with recessive mutations have a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with recessive mutations have a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4306. en:patients with residual enzyme activity have childhood or adult onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with residual enzyme activity have childhood or adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4307. en:patients with t2 deficiency and urinary abnormalities may be asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4308. en:patients with the autosomal recessive disorder have a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with the autosomal recessive disorder have a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4309. en:patients with total c4 deficiency are homozygous for double null c4 haplotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4310. en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4311. en:patients younger than 30 years complain only that they cannot run fast --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:patients younger than 30 years complain only that they cannot run fast | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4312. en:pavm more frequent in hht1 than hht2 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pavm more frequent in hht1 than hht2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4313. en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4314. en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4315. en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4316. en:peak age of onset in second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:peak age of onset in second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4317. en:peak age of onset in second decade (range childhood to 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:peak age of onset in second decade (range childhood to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4318. en:peak age of onset in second decade (range childhood to 76 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:peak age of onset in second decade (range childhood to 76 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4319. en:pectus carinatum present in obligate carrier mothers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pectus carinatum present in obligate carrier mothers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4320. en:pedigrees compatible with autosomal dominant inheritance have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pedigrees compatible with autosomal dominant inheritance have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4321. en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4322. en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4323. en:penetrance 86% by 50 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:penetrance 86% by 50 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4324. en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4325. en:penetrance is usually complete by age 65 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:penetrance is usually complete by age 65 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4326. en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4327. en:penetrance of disease is complete between 30 and 40 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:penetrance of disease is complete between 30 and 40 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4328. en:peo is not always present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:peo is not always present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4329. en:percentages based on review of 51 published cases (pmid 24891339) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:percentages based on review of 51 published cases (pmid 24891339) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4330. en:performing laboratory medical director:id:pt:facility:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:performing laboratory medical director:id:pt:facility:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4331. en:performing laboratory name:identifier:point in time:facility:nominal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:performing laboratory name:identifier:point in time:facility:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4332. en:performing laboratory phone:tele:pt:facility:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:performing laboratory phone:tele:pt:facility:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4333. en:performing laboratory:addr:pt:facility:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:performing laboratory:addr:pt:facility:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4334. en:perinatal death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:perinatal death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4335. en:perinatal lethal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:perinatal lethal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4336. en:perinatal lethality --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:perinatal lethality | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4337. en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4338. en:periodontium is less severely affected than in papillon-lefevre syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:periodontium is less severely affected than in papillon-lefevre syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4339. en:peripheral neuropathy occurs in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:peripheral neuropathy occurs in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4340. en:periventricular heterotopia (300049) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:periventricular heterotopia (300049) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4341. en:persistence of febrile seizures beyond age 6 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:persistence of febrile seizures beyond age 6 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4342. en:persistent bleeding after injury or surgery --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:persistent bleeding after injury or surgery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4343. en:persistent bleeding after trauma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:persistent bleeding after trauma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4344. en:persistent exposure to fructose leads to chronic liver and kidney complications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:persistent exposure to fructose leads to chronic liver and kidney complications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4345. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4346. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4347. en:phenotype is classically defined as aplasia cutis and transverse limb defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype is classically defined as aplasia cutis and transverse limb defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4348. en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4349. en:phenotype is worsened by cold temperature --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype is worsened by cold temperature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4350. en:phenotype may be exacerbated by maltreatment in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype may be exacerbated by maltreatment in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4351. en:phenotype may be influenced by maternal alcohol consumption during pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4352. en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4353. en:phenotype may or may not be consistent within a family. --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype may or may not be consistent within a family. | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4354. en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4355. en:phenotypic heterogeneity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic heterogeneity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4356. en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4357. en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4358. en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4359. en:phenotypic overlap with currarino syndrome (176450) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with currarino syndrome (176450) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4360. en:phenotypic overlap with cytochrome c oxidase deficiency (220110) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4361. en:phenotypic overlap with denys-drash syndrome (194080). --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with denys-drash syndrome (194080). | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4362. en:phenotypic overlap with desbuquois dysplasia (251450) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with desbuquois dysplasia (251450) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4363. en:phenotypic overlap with fhm1 (141500) and sca6 (183086) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4364. en:phenotypic overlap with frontotemporal dementia (600274) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with frontotemporal dementia (600274) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4365. en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4366. en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4367. en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4368. en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4369. en:phenotypic overlap with parkinson disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with parkinson disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4370. en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4371. en:phenotypic overlap with revesz syndrome (268130) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with revesz syndrome (268130) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4372. en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4373. en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4374. en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4375. en:phenotypic similarities to angelman syndrome (105830) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic similarities to angelman syndrome (105830) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4376. en:phenotypic similarities to costello syndrome (218040) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic similarities to costello syndrome (218040) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4377. en:phenotypic similarities to leigh syndrome (256000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic similarities to leigh syndrome (256000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4378. en:phenotypic similarities to noonan syndrome (163950) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic similarities to noonan syndrome (163950) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4379. en:phenotypic variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4380. en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4381. en:phenotypic variability within families and among patients carrying the same mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic variability within families and among patients carrying the same mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4382. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4383. en:phenotypic variability, intrafamilial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic variability, intrafamilial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4384. en:phenotypic variation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic variation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4385. en:phenotypic variation (may affect language expression, reception, and/or articulation) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic variation (may affect language expression, reception, and/or articulation) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4386. en:phenotypic variation in severity and symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypic variation in severity and symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4387. en:phenotypically indistinguishable from hemophilia a (306700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypically indistinguishable from hemophilia a (306700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4388. en:phenotypically mild form of joubert syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:phenotypically mild form of joubert syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4389. en:physical features are apparent at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:physical features are apparent at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4390. en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4391. en:pigment does not develop with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pigment does not develop with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4392. en:pigmentary abnormalities apparent at birth or in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pigmentary abnormalities apparent at birth or in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4393. en:pigmented spots appear in infancy through childhood and fade in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pigmented spots appear in infancy through childhood and fade in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4394. en:plantar contractures become apparent with onset of ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:plantar contractures become apparent with onset of ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4395. en:plasma cholinesterase measurement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:plasma cholinesterase measurement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4396. en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4397. en:pneumocytosis carinii infection (12 to 42%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pneumocytosis carinii infection (12 to 42%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4398. en:poland syndrome can be associated with moebius syndrome (157900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poland syndrome can be associated with moebius syndrome (157900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4399. en:polg mutations account for approximately 45% of all peo cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:polg mutations account for approximately 45% of all peo cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4400. en:polyhydramnios --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:polyhydramnios | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4401. en:polyps occur in teens --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:polyps occur in teens | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4402. en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4403. en:poor or no response to glucocorticoid treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor or no response to glucocorticoid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4404. en:poor outcome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor outcome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4405. en:poor response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor response to acetylcholinesterase inhibitors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4406. en:poor response to acetylcholinesterase inhibitors or cholinergic agents --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4407. en:poor response to g-csf treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor response to g-csf treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4408. en:poor response to l-dopa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor response to l-dopa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4409. en:poor response to levodopa treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor response to levodopa treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4410. en:poor response to the c5 inhibitor eculizumab --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:poor response to the c5 inhibitor eculizumab | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4411. en:positive family history in 12-33% patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:positive family history in 12-33% patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4412. en:positive response to treatment with growth hormone --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:positive response to treatment with growth hormone | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4413. en:possible autosomal dominant (165199) and autosomal recessive (258650) forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4414. en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4415. en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4416. en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4417. en:possible defect of a specific lipase in the pathway of free fatty acid oxidation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4418. en:possible favorable response to ketogenic diet --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible favorable response to ketogenic diet | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4419. en:possible genetic heterogeneity (linkage to xp22 in some families) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible genetic heterogeneity (linkage to xp22 in some families) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4420. en:possible gonadal mosaicism in one report --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible gonadal mosaicism in one report | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4421. en:possible increase of aneuploidy in offspring --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible increase of aneuploidy in offspring | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4422. en:possible x-linked dominant inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible x-linked dominant inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4423. en:possible x-linked inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible x-linked inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4424. en:possible x-linked recessive inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possible x-linked recessive inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4425. en:possibly allelic to cohen syndrome (216550) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possibly allelic to cohen syndrome (216550) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4426. en:possibly x-linked recessive inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:possibly x-linked recessive inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4427. en:postlingual onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:postlingual onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4428. en:preaxial involvement in approximately 60% of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:preaxial involvement in approximately 60% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4429. en:precipitated by fatigue or alcohol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitated by fatigue or alcohol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4430. en:precipitated by febrile illness and fasting --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitated by febrile illness and fasting | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4431. en:precipitated by fever --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitated by fever | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4432. en:precipitated by general anesthesia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitated by general anesthesia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4433. en:precipitated by infection, fasting, or intercurrent illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitated by infection, fasting, or intercurrent illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4434. en:precipitated by mechanical compression or pressure on nerve --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitated by mechanical compression or pressure on nerve | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4435. en:precipitated by sleep deprivation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitated by sleep deprivation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4436. en:precipitating factors - ingestion of wheat gluten, rye, and/or barley --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4437. en:precipitating factors include viral illness and pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:precipitating factors include viral illness and pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4438. en:predisposition to neoplasia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:predisposition to neoplasia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4439. en:predominantly occurs in young males with a high rate of atopic disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:predominantly occurs in young males with a high rate of atopic disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4440. en:predominantly occurs in young males with high rate of atopic disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:predominantly occurs in young males with high rate of atopic disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4441. en:preferably treated with iodine supplementation rather than thyroid hormone replacement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4442. en:prelingual onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prelingual onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4443. en:prelingual onset in males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prelingual onset in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4444. en:premature aging syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:premature aging syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4445. en:premature death may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:premature death may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4446. en:prenatal diagnosis available --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal diagnosis available | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4447. en:prenatal diagnosis by ultrasound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal diagnosis by ultrasound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4448. en:prenatal history of maternal diabetes in 35% of cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal history of maternal diabetes in 35% of cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4449. en:prenatal onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4450. en:prenatal onset or onset at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal onset or onset at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4451. en:prenatal onset or onset in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal onset or onset in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4452. en:prenatal or neonatal onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal or neonatal onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4453. en:prenatal or perinatal death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal or perinatal death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4454. en:prenatal or perinatal lethality in hemizygous males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prenatal or perinatal lethality in hemizygous males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4455. en:preponderance of affected females (80%) to males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:preponderance of affected females (80%) to males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4456. en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4457. en:presence of additional features is variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presence of additional features is variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4458. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4459. en:present at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:present at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4460. en:present in infancy in all affected individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:present in infancy in all affected individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4461. en:present in jewish yemenite population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:present in jewish yemenite population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4462. en:presentation after 18 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation after 18 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4463. en:presentation after 6 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation after 6 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4464. en:presentation at 3-6 weeks of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation at 3-6 weeks of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4465. en:presentation between 6-18 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation between 6-18 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4466. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4467. en:presentation in childhood includes waddling gait and knee pain/stiffness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation in childhood includes waddling gait and knee pain/stiffness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4468. en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4469. en:presentation in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4470. en:presentation in first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation in first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4471. en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4472. en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4473. en:presenting symptoms in the upper body --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presenting symptoms in the upper body | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4474. en:presents as early-onset strokes in 43% of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presents as early-onset strokes in 43% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4475. en:presents at 2 to 3 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presents at 2 to 3 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4476. en:presents at a later age than sporadic wilms tumor --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presents at a later age than sporadic wilms tumor | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4477. en:presents at a later stage than sporadic wilms tumor --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presents at a later stage than sporadic wilms tumor | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4478. en:presents at birth or early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presents at birth or early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4479. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4480. en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4481. en:presumed autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:presumed autosomal dominant with incomplete penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4482. en:prevalence 1 in 1,250 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence 1 in 1,250 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4483. en:prevalence 1 in 8000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence 1 in 8000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4484. en:prevalence 1-2% in northern european populations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence 1-2% in northern european populations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4485. en:prevalence 1/10,000-1/15,000 female births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence 1/10,000-1/15,000 female births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4486. en:prevalence approximately 1 in 4,000 males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence approximately 1 in 4,000 males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4487. en:prevalence estimated at 1 in 50,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence estimated at 1 in 50,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4488. en:prevalence estimated at 1 in 86,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence estimated at 1 in 86,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4489. en:prevalence in caucasians is 1 in 1,000,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in caucasians is 1 in 1,000,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4490. en:prevalence in finland is 1 in 25,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in finland is 1 in 25,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4491. en:prevalence in norway is 1 in 80,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in norway is 1 in 80,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4492. en:prevalence in poland is 1 in 129,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in poland is 1 in 129,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4493. en:prevalence in sardinia is 1 in 14,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in sardinia is 1 in 14,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4494. en:prevalence in slovenia is 1 in 43,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in slovenia is 1 in 43,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4495. en:prevalence in taiwan is 1 in 132,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in taiwan is 1 in 132,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4496. en:prevalence in the finnish population of 5.8 per million --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence in the finnish population of 5.8 per million | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4497. en:prevalence is estimated to be 1 in 1,100,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence is estimated to be 1 in 1,100,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4498. en:prevalence is estimated to be 1 in 150,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence is estimated to be 1 in 150,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4499. en:prevalence much higher in whites than blacks --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence much higher in whites than blacks | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4500. en:prevalence of 0.5 to 1 in 1,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 0.5 to 1 in 1,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4501. en:prevalence of 0.6 to 10 per 100,000 individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 0.6 to 10 per 100,000 individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4502. en:prevalence of 1 in 1,429 in tanzania --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 1,429 in tanzania | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4503. en:prevalence of 1 in 1,500 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 1,500 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4504. en:prevalence of 1 in 10,000 african-americans --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 10,000 african-americans | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4505. en:prevalence of 1 in 10,000 caucasians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 10,000 caucasians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4506. en:prevalence of 1 in 100,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 100,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4507. en:prevalence of 1 in 150 to 1 in 1,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 150 to 1 in 1,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4508. en:prevalence of 1 in 150,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 150,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4509. en:prevalence of 1 in 2,833 in zimbabwe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 2,833 in zimbabwe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4510. en:prevalence of 1 in 200,000 to 1 in 800,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 200,000 to 1 in 800,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4511. en:prevalence of 1 in 227 hopi indians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 227 hopi indians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4512. en:prevalence of 1 in 240 zuni indians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 240 zuni indians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4513. en:prevalence of 1 in 28,000 african-americans --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 28,000 african-americans | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4514. en:prevalence of 1 in 28,000 caucasians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 28,000 caucasians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4515. en:prevalence of 1 in 3,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 3,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4516. en:prevalence of 1 in 3,900 in south africa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 3,900 in south africa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4517. en:prevalence of 1 in 30,000 in northern europe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 30,000 in northern europe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4518. en:prevalence of 1 in 300,000 in quebec --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 300,000 in quebec | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4519. en:prevalence of 1 in 40,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 40,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4520. en:prevalence of 1 in 40,000 among caucasians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 40,000 among caucasians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4521. en:prevalence of 1 in 40,000 to 1 in 80,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 40,000 to 1 in 80,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4522. en:prevalence of 1 in 50,000-70,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 50,000-70,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4523. en:prevalence of 1 in 6,000 to 1 in 10,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 6,000 to 1 in 10,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4524. en:prevalence of 1 in 7,900 in cameroon --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 7,900 in cameroon | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4525. en:prevalence of 1 in 70,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 1 in 70,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4526. en:prevalence of 19 in 1,000,000 in sweden --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 19 in 1,000,000 in sweden | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4527. en:prevalence of 2-7% in english-speaking preschool children --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 2-7% in english-speaking preschool children | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4528. en:prevalence of 7 in 100,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of 7 in 100,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4529. en:prevalence of approximately 1 in 2000 individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of approximately 1 in 2000 individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4530. en:prevalence of essential tremor ranges from 0.4 to 6% in the general population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4531. en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4532. en:prevalence of in 1 in 8,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of in 1 in 8,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4533. en:prevalence of sleep terrors about 3% in children --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of sleep terrors about 3% in children | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4534. en:prevalence of sleep terrors less than 1% in adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of sleep terrors less than 1% in adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4535. en:prevalence of sleepwalking about 3% in adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of sleepwalking about 3% in adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4536. en:prevalence of sleepwalking up to 26% in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of sleepwalking up to 26% in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4537. en:prevalence of true hypoprothrombinemia is 1 in 2 million --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence of true hypoprothrombinemia is 1 in 2 million | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4538. en:prevalence ranges from 1 in 12,000 to 1 in 50,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4539. en:prevalence rates average 10-20% of the general population over age 60 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalence rates average 10-20% of the general population over age 60 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4540. en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4541. en:prevalent among individuals of east asian descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent among individuals of east asian descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4542. en:prevalent among patients of asian descent, particularly japanese --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent among patients of asian descent, particularly japanese | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4543. en:prevalent among the amish --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent among the amish | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4544. en:prevalent in arabic, turkish, armenian, and sephardic jewish populations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4545. en:prevalent in ashkenazi jews --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in ashkenazi jews | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4546. en:prevalent in bulgarian gypsies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in bulgarian gypsies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4547. en:prevalent in newfoundland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in newfoundland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4548. en:prevalent in north africa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in north africa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4549. en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4550. en:prevalent in quebec --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in quebec | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4551. en:prevalent in sweden --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in sweden | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4552. en:prevalent in the old order amish in the u.s. and in finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prevalent in the old order amish in the u.s. and in finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4553. en:primarily diagnosed in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:primarily diagnosed in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4554. en:primary teeth affected greater than secondary teeth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:primary teeth affected greater than secondary teeth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4555. en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4556. en:profound dementia and death usually occurs by age 50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:profound dementia and death usually occurs by age 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4557. en:prognosis good --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prognosis good | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4558. en:progresses through puberty, then stabilizes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progresses through puberty, then stabilizes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4559. en:progresses to involve upper limbs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progresses to involve upper limbs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4560. en:progression in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progression in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4561. en:progression more frequent in men than women --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progression more frequent in men than women | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4562. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4563. en:progression of phenotype with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progression of phenotype with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4564. en:progression of the disorder is precipitated by viral symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progression of the disorder is precipitated by viral symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4565. en:progression to profound hearing loss affecting all frequencies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progression to profound hearing loss affecting all frequencies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4566. en:progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4567. en:progressive cerebellar ataxia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive cerebellar ataxia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4568. en:progressive clinical course with onset in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive clinical course with onset in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4569. en:progressive deafness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive deafness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4570. en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4571. en:progressive disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4572. en:progressive disease is seen in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disease is seen in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4573. en:progressive disease with onset in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disease with onset in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4574. en:progressive disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4575. en:progressive disorder due to secondary myopathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disorder due to secondary myopathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4576. en:progressive disorder regarding both neurologic and renal symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disorder regarding both neurologic and renal symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4577. en:progressive disorder that may become stable in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disorder that may become stable in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4578. en:progressive disorder, usually with rapid, relentless course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disorder, usually with rapid, relentless course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4579. en:progressive disorder, with older patients exhibiting more severe symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive disorder, with older patients exhibiting more severe symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4580. en:progressive neurologic deterioration if untreated --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive neurologic deterioration if untreated | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4581. en:progressive or slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive or slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4582. en:progressive renal disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive renal disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4583. en:progressive sclerosis with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive sclerosis with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4584. en:progressive skeletal dysplasia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive skeletal dysplasia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4585. en:progressive, with full manifestations at puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:progressive, with full manifestations at puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4586. en:prominent psychiatric symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:prominent psychiatric symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4587. en:protein c deficiency is found in 3-4% of patients with venous thromboembolism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4588. en:protein s deficiency is found in 2-3% of patients with thromboembolism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:protein s deficiency is found in 2-3% of patients with thromboembolism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4589. en:protracted course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:protracted course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4590. en:protracted disease course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:protracted disease course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4591. en:provoked by crying or emotional upset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:provoked by crying or emotional upset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4592. en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4593. en:pseudomembrane formation triggered by injury, infection, irritation, surgery --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4594. en:psychiatric symptoms may be the presenting sign --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:psychiatric symptoms may be the presenting sign | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4595. en:psychomotor delay may already be apparent at onset of seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:psychomotor delay may already be apparent at onset of seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4596. en:ptosis is usually presenting feature --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ptosis is usually presenting feature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4597. en:pulsatile headache lasts hours to days --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pulsatile headache lasts hours to days | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4598. en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4599. en:pyogenic arthritis, pyoderma gangrenosum and acne --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pyogenic arthritis, pyoderma gangrenosum and acne | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4600. en:pyridoxine responsive individuals often have milder manifestations than those not responsive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4601. en:radioresistant dna synthesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:radioresistant dna synthesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4602. en:range of onset 11 to 50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:range of onset 11 to 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4603. en:rapid disease progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapid disease progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4604. en:rapid disease progression from ages 40 to 50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapid disease progression from ages 40 to 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4605. en:rapid progression in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapid progression in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4606. en:rapid progression to disability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapid progression to disability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4607. en:rapidly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4608. en:rapidly progressive (6-24 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive (6-24 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4609. en:rapidly progressive course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4610. en:rapidly progressive deterioration (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive deterioration (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4611. en:rapidly progressive disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4612. en:rapidly progressive episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4613. en:rapidly progressive neonatal onset with early death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive neonatal onset with early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4614. en:rapidly progressive to persistent vegetative state or death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive to persistent vegetative state or death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4615. en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4616. en:rare adult cases reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rare adult cases reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4617. en:rare adult onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rare adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4618. en:rare autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rare autosomal dominant inheritance has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4619. en:rare disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rare disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4620. en:rare patients with homozygous null mutations have most severe disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rare patients with homozygous null mutations have most severe disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4621. en:rare spontaneous improvement occurs (8%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rare spontaneous improvement occurs (8%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4622. en:rare survival to teens --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rare survival to teens | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4623. en:rarely produces clinical jaundice --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rarely produces clinical jaundice | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4624. en:rarely reported in infants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rarely reported in infants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4625. en:rarely, patients may be asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rarely, patients may be asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4626. en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4627. en:rash, edema, and arthralgia may occur during crisis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rash, edema, and arthralgia may occur during crisis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4628. en:ratio female to male, 19:10 in index family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ratio female to male, 19:10 in index family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4629. en:reason for lab test:type:pt:bld.dot:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reason for lab test:type:pt:bld.dot:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4630. en:recessive inheritance has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recessive inheritance has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4631. en:recessive inheritance is rare --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recessive inheritance is rare | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4632. en:recurrence is possible --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrence is possible | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4633. en:recurrence of symptoms after cholecystectomy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrence of symptoms after cholecystectomy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4634. en:recurrent acute episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent acute episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4635. en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4636. en:recurrent bacterial infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent bacterial infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4637. en:recurrent bacterial infections beginning in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent bacterial infections beginning in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4638. en:recurrent bacterial infections with onset in the first or second year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent bacterial infections with onset in the first or second year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4639. en:recurrent bacterial, viral, and fungal infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent bacterial, viral, and fungal infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4640. en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4641. en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4642. en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4643. en:reduced exercise tolerance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced exercise tolerance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4644. en:reduced fertility --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced fertility | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4645. en:reduced fetal movement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced fetal movement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4646. en:reduced life expectancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced life expectancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4647. en:reduced life expectancy, death by 10 years of age in 70% of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced life expectancy, death by 10 years of age in 70% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4648. en:reduced longevity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced longevity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4649. en:reduced penetrance (75%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance (75%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4650. en:reduced penetrance (89%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance (89%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4651. en:reduced penetrance (about 60%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance (about 60%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4652. en:reduced penetrance (approximately 54%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance (approximately 54%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4653. en:reduced penetrance (approximately 87%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance (approximately 87%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4654. en:reduced penetrance has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4655. en:reduced penetrance in females --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance in females | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4656. en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4657. en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4658. en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4659. en:reference lab test identifier:id:xxx:reference lab test:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reference lab test identifier:id:xxx:reference lab test:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4660. en:reference lab test method:type:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4661. en:reference lab test name:type:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4662. en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4663. en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4664. en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4665. en:regional, racial, and ethnic clustering has been noted --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:regional, racial, and ethnic clustering has been noted | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4666. en:regression in infancy (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:regression in infancy (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4667. en:relapsing-remitting course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relapsing-remitting course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4668. en:relationship of rare neuropsychiatric signs to histidinemia is unclear --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4669. en:relatively benign course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relatively benign course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4670. en:relatively benign course after acute episodes in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relatively benign course after acute episodes in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4671. en:relatively mild course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relatively mild course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4672. en:relatively mild cutis laxa, associated with severe vascular abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relatively mild cutis laxa, associated with severe vascular abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4673. en:relatively slow progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relatively slow progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4674. en:relatives with multiple small congenital pigmented nevi --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relatives with multiple small congenital pigmented nevi | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4675. en:relief is achieved by cooling or by elevating the extremities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:relief is achieved by cooling or by elevating the extremities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4676. en:renal anomalies are not always present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:renal anomalies are not always present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4677. en:renal dysfunction normalizes in the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:renal dysfunction normalizes in the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4678. en:renal failure in second or third decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:renal failure in second or third decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4679. en:renal involvement and coloboma may not be present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:renal involvement and coloboma may not be present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4680. en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4681. en:repeat is unstable if > 52 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:repeat is unstable if > 52 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4682. en:repeat tracts may expand as patient ages (somatic instability) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:repeat tracts may expand as patient ages (somatic instability) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4683. en:reported cases all sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported cases all sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4684. en:reported in 1 family (last curated may 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in 1 family (last curated may 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4685. en:reported in 2 sibs (february 1991) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in 2 sibs (february 1991) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4686. en:reported in a large hutterite family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in a large hutterite family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4687. en:reported in individuals of amish or mennonite descent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in individuals of amish or mennonite descent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4688. en:reported in individuals of french canadian origin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in individuals of french canadian origin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4689. en:reported in individuals of jewish moroccan ancestry --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in individuals of jewish moroccan ancestry | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4690. en:reported in individuals of sephardic jewish ancestry --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in individuals of sephardic jewish ancestry | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4691. en:reported in the ohio amish anabaptist community --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported in the ohio amish anabaptist community | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4692. en:reported patients are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reported patients are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4693. en:resembles intrauterine torch infection but without intrauterine infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:resembles intrauterine torch infection but without intrauterine infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4694. en:resembles pseudo-torch syndrome (251290) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:resembles pseudo-torch syndrome (251290) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4695. en:residual neurologic deficits are slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:residual neurologic deficits are slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4696. en:resource identifier:uri:pt:study:nom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:resource identifier:uri:pt:study:nom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4697. en:respiratory distress may be precipitated by viral respiratory infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:respiratory distress may be precipitated by viral respiratory infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4698. en:response to acetazolamide --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:response to acetazolamide | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4699. en:response to benadryl (diphenhydramine) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:response to benadryl (diphenhydramine) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4700. en:response to zinc supplementation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:response to zinc supplementation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4701. en:responsive to high-dose biotin or biotin/thiamine treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:responsive to high-dose biotin or biotin/thiamine treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4702. en:responsive to oral mannose therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:responsive to oral mannose therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4703. en:responsive to thiazide diuretics --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:responsive to thiazide diuretics | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4704. en:responsive to treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:responsive to treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4705. en:responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:responsive to vitamin b12 therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4706. en:results in severe motor disability and loss of independent ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:results in severe motor disability and loss of independent ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4707. en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4708. en:reticulate hyperpigmentation onset birth - 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:reticulate hyperpigmentation onset birth - 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4709. en:retinal arteriolar tortuosity develops in adolescence and is progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:retinal arteriolar tortuosity develops in adolescence and is progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4710. en:retinal degeneration not always present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:retinal degeneration not always present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4711. en:retinal hemorrhages usually resolve without sequelae --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:retinal hemorrhages usually resolve without sequelae | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4712. en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4713. en:rickets and premature primary tooth loss occur in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:rickets and premature primary tooth loss occur in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4714. en:right side affected greater than left side --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:right side affected greater than left side | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4715. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4716. en:risk haplotype found in dutch families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk haplotype found in dutch families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4717. en:risk of affected offspring in maternal translocation carrier - 4-10% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of affected offspring in maternal translocation carrier - 4-10% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4718. en:risk of affected offspring in paternal translocation carrier - 0-7% --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of affected offspring in paternal translocation carrier - 0-7% | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4719. en:risk of death due to cardiac dysfunction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of death due to cardiac dysfunction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4720. en:risk of sudden death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of sudden death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4721. en:risk of sudden death due to cardiac arrhythmias --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of sudden death due to cardiac arrhythmias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4722. en:risk of sudden death due to cardiac defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of sudden death due to cardiac defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4723. en:risk of sudden death in childhood due to cardiac arrest --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of sudden death in childhood due to cardiac arrest | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4724. en:risk of sudden death with exertion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of sudden death with exertion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4725. en:risk of thromboembolic stroke --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:risk of thromboembolic stroke | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4726. en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4727. en:sando (607459) is a phenotypic variant of autosomal recessive peo --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sando (607459) is a phenotypic variant of autosomal recessive peo | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4728. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4729. en:scalp hair quality improves during pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:scalp hair quality improves during pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4730. en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4731. en:seasonal variation in severity of skin symptoms reported by some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seasonal variation in severity of skin symptoms reported by some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4732. en:second most common form of usher syndrome type i --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:second most common form of usher syndrome type i | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4733. en:secondary features include arterial hypertension and renal involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:secondary features include arterial hypertension and renal involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4734. en:secondary hemorrhage --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:secondary hemorrhage | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4735. en:secondary prevention, avoid smoking, alcohol, and oxidants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:secondary prevention, avoid smoking, alcohol, and oxidants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4736. en:secondary tumors develop within the skin lesions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:secondary tumors develop within the skin lesions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4737. en:secretory diarrhea begins prenatally --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:secretory diarrhea begins prenatally | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4738. en:see (277600) for a phenotypically similar autosomal recessive form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see (277600) for a phenotypically similar autosomal recessive form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4739. en:see (608328) for a phenotypically similar autosomal dominant form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see (608328) for a phenotypically similar autosomal dominant form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4740. en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4741. en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4742. en:see 177850 for description of heterozygous phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see 177850 for description of heterozygous phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4743. en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4744. en:see 255160 for an autosomal recessive form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see 255160 for an autosomal recessive form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4745. en:see 607731 for an autosomal recessive form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see 607731 for an autosomal recessive form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4746. en:see 609888 for a discussion on leprosy susceptibility --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see 609888 for a discussion on leprosy susceptibility | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4747. en:see also a childhood-onset form (114100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also a childhood-onset form (114100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4748. en:see also adult-onset stiff person syndrome (184850) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also adult-onset stiff person syndrome (184850) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4749. en:see also an adult-onset form (213600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also an adult-onset form (213600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4750. en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4751. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4752. en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4753. en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4754. en:see also autosomal dominant form (128230) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant form (128230) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4755. en:see also autosomal dominant form (160800), which is less common and less severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant form (160800), which is less common and less severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4756. en:see also autosomal dominant form (176860) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant form (176860) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4757. en:see also autosomal dominant giant axonal neuropathy (610100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant giant axonal neuropathy (610100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4758. en:see also autosomal dominant hypophosphatemic rickets (193100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant hypophosphatemic rickets (193100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4759. en:see also autosomal dominant lutheran-null phenotype (111150) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant lutheran-null phenotype (111150) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4760. en:see also autosomal dominant peoa1 (157640) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant peoa1 (157640) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4761. en:see also autosomal dominant robinow syndrome (180700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant robinow syndrome (180700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4762. en:see also autosomal dominant sick sinus syndrome (163800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal dominant sick sinus syndrome (163800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4763. en:see also autosomal form, 146450, and another x-linked form, 300633 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal form, 146450, and another x-linked form, 300633 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4764. en:see also autosomal form, 146450, and another x-linked form, 300758 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal form, 146450, and another x-linked form, 300758 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4765. en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4766. en:see also autosomal recessive familial mediterranean fever (fmf, 249100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4767. en:see also autosomal recessive form (255700), which is more common and more severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal recessive form (255700), which is more common and more severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4768. en:see also autosomal recessive form (612304) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal recessive form (612304) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4769. en:see also autosomal recessive peob (258450) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal recessive peob (258450) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4770. en:see also autosomal recessive robinow syndrome (268310) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal recessive robinow syndrome (268310) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4771. en:see also autosomal recessive sick sinus syndrome (sss1, 608567) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4772. en:see also benign familial infantile convulsions (bfic1, 601764) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also benign familial infantile convulsions (bfic1, 601764) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4773. en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4774. en:see also benign neonatal epilepsy (ebn1, 121200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also benign neonatal epilepsy (ebn1, 121200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4775. en:see also cblc (277400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also cblc (277400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4776. en:see also cbld (277410) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also cbld (277410) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4777. en:see also chromosome 2q32-q33 deletion syndrome (612313) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also chromosome 2q32-q33 deletion syndrome (612313) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4778. en:see also cmtx1 (302800) and cmt3x (302802) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also cmtx1 (302800) and cmt3x (302802) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4779. en:see also cmtx1 (302800) and cmtx2 (302801) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also cmtx1 (302800) and cmtx2 (302801) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4780. en:see also congenital stiff person syndrome (149400) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also congenital stiff person syndrome (149400) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4781. en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4782. en:see also da2b (601680), which is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also da2b (601680), which is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4783. en:see also dent disease 2 (300555) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also dent disease 2 (300555) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4784. en:see also distal hmn2a (158590) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also distal hmn2a (158590) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4785. en:see also dominant deb (131750), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4786. en:see also dominant deb (131750), an allelic disorder with a similar phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4787. en:see also dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also dyggve-melchior-clausen disease (223800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4788. en:see also dyssegmental dysplasia, silverman-handmaker type (224410) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4789. en:see also ecyt2 (263400) and ecyt3 (609820) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also ecyt2 (263400) and ecyt3 (609820) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4790. en:see also erythrocytosis 1 (ecyt1, 133100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also erythrocytosis 1 (ecyt1, 133100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4791. en:see also facial hemihypertrophy (133900) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also facial hemihypertrophy (133900) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4792. en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4793. en:see also familial developmental dysphasia (600117) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also familial developmental dysphasia (600117) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4794. en:see also febrile seizures (feb1, 121210) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also febrile seizures (feb1, 121210) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4795. en:see also french-canadian type of leigh syndrome (220111) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also french-canadian type of leigh syndrome (220111) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4796. en:see also gaucher disease type iii (231000), which is much less severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also gaucher disease type iii (231000), which is much less severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4797. en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4798. en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4799. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4800. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4801. en:see also hmn2b (608634) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also hmn2b (608634) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4802. en:see also infantile (600649) and late-onset (255110) cpt ii deficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4803. en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4804. en:see also junctional eb with pyloric atresia (226730) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also junctional eb with pyloric atresia (226730) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4805. en:see also later childhood-onset form (300718) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also later childhood-onset form (300718) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4806. en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4807. en:see also lethal neonatal (608836) and adult forms (255110) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also lethal neonatal (608836) and adult forms (255110) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4808. en:see also mmab (251110) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also mmab (251110) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4809. en:see also more severe phenotype peeling skin syndrome (270300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also more severe phenotype peeling skin syndrome (270300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4810. en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4811. en:see also oca1a (203100) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also oca1a (203100) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4812. en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4813. en:see also optic atrophy 1 (165500), an allelic disorder without deafness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4814. en:see also optic atrophy with deafness (125250), an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also optic atrophy with deafness (125250), an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4815. en:see also pachyonychia congenita, type 3 (pc1, 167200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pachyonychia congenita, type 3 (pc1, 167200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4816. en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4817. en:see also peeling skin syndrome, acral type (609796) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also peeling skin syndrome, acral type (609796) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4818. en:see also perinatal lethal variant (608013), which is more severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also perinatal lethal variant (608013), which is more severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4819. en:see also pfm3 on chromosome 4q21-q23 (609566) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pfm3 on chromosome 4q21-q23 (609566) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4820. en:see also pgl1 (168000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pgl1 (168000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4821. en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4822. en:see also pseudohypoparathyroidism type ia (103580) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pseudohypoparathyroidism type ia (103580) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4823. en:see also pseudohypoparathyroidism type ia (php1a, 103580) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4824. en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4825. en:see also pseudopseudohypoparathyroidism (612463) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also pseudopseudohypoparathyroidism (612463) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4826. en:see also recessive deb (226600), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4827. en:see also severe, early-onset form (300717) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also severe, early-onset form (300717) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4828. en:see also simplex eb with pyloric atresia (612138) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also simplex eb with pyloric atresia (612138) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4829. en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4830. en:see also the autosomal recessive form (243000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also the autosomal recessive form (243000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4831. en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4832. en:see also the lethal neonatal (608836) and infantile (600649) forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also the lethal neonatal (608836) and infantile (600649) forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4833. en:see also the non-herlitz type of jeb (226650), a less severe disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also the non-herlitz type of jeb (226650), a less severe disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4834. en:see also the x-linked form (300291) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also the x-linked form (300291) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4835. en:see also two x-linked forms 300633 and 300758 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also two x-linked forms 300633 and 300758 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4836. en:see also x-linked (310400) and autosomal dominant (160150) forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also x-linked (310400) and autosomal dominant (160150) forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4837. en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4838. en:see also x-linked dominant form (300652) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also x-linked dominant form (300652) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4839. en:see also x-linked edmd (310300) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also x-linked edmd (310300) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4840. en:see also x-linked leigh syndrome (312170) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see also x-linked leigh syndrome (312170) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4841. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4842. en:see cmt4a (214400) for autosomal recessive demyelinating forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see cmt4a (214400) for autosomal recessive demyelinating forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4843. en:see ebn1 (121200) for an autosomal dominant form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see ebn1 (121200) for an autosomal dominant form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4844. en:see entry 104300 for general information on alzheimer disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see entry 104300 for general information on alzheimer disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4845. en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4846. en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4847. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4848. en:see recessive form optb4 (611490) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see recessive form optb4 (611490) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4849. en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4850. en:see the more common methemoglobinemia types i and ii (250800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:see the more common methemoglobinemia types i and ii (250800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4851. en:seen more frequently in infants of diabetic mothers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seen more frequently in infants of diabetic mothers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4852. en:segmental distribution often affecting 1 limb --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:segmental distribution often affecting 1 limb | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4853. en:seizure frequency decreases during early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizure frequency decreases during early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4854. en:seizure onset after 3 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizure onset after 3 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4855. en:seizure onset at a mean of 14 months (range 6 to 36 months) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizure onset at a mean of 14 months (range 6 to 36 months) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4856. en:seizure onset between 3 and 11 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizure onset between 3 and 11 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4857. en:seizure onset in first months or years of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizure onset in first months or years of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4858. en:seizure severity and frequency tend to improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizure severity and frequency tend to improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4859. en:seizures and cognitive involvement are variable findings --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures and cognitive involvement are variable findings | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4860. en:seizures and dystonia peak during childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures and dystonia peak during childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4861. en:seizures are easily controlled by medications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are easily controlled by medications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4862. en:seizures are fever-sensitive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are fever-sensitive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4863. en:seizures are followed by drowsiness in most cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are followed by drowsiness in most cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4864. en:seizures are often refractory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are often refractory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4865. en:seizures are poorly responsive to treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are poorly responsive to treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4866. en:seizures are provoked by immersion in hot or warm water --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are provoked by immersion in hot or warm water | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4867. en:seizures are refractory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are refractory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4868. en:seizures are refractory to medication --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are refractory to medication | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4869. en:seizures are refractory to treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are refractory to treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4870. en:seizures are responsive to pyridoxine treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are responsive to pyridoxine treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4871. en:seizures are sensitive to hyperventilation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are sensitive to hyperventilation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4872. en:seizures are usually intractable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are usually intractable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4873. en:seizures are usually refractory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are usually refractory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4874. en:seizures are usually refractory at first --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures are usually refractory at first | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4875. en:seizures become nearly continuous --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures become nearly continuous | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4876. en:seizures easily controlled by medications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures easily controlled by medications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4877. en:seizures last about 30 seconds to 3 minutes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures last about 30 seconds to 3 minutes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4878. en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4879. en:seizures may be refractory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may be refractory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4880. en:seizures may be refractory to treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may be refractory to treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4881. en:seizures may be triggered by infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may be triggered by infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4882. en:seizures may improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4883. en:seizures may occur upon awakening or at any time during the day --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may occur upon awakening or at any time during the day | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4884. en:seizures may occur with illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may occur with illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4885. en:seizures may persist into adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may persist into adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4886. en:seizures may remit in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may remit in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4887. en:seizures may remit later in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may remit later in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4888. en:seizures may remit with age (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures may remit with age (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4889. en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4890. en:seizures occur upon awakening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures occur upon awakening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4891. en:seizures precipitated by fatigue or alcohol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures precipitated by fatigue or alcohol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4892. en:seizures recur in 33% of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures recur in 33% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4893. en:seizures remit by age 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures remit by age 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4894. en:seizures remit in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures remit in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4895. en:seizures remit in later childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures remit in later childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4896. en:seizures resolve by 4 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures resolve by 4 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4897. en:seizures tend to become more focal with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures tend to become more focal with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4898. en:seizures tend to occur upon awakening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures tend to occur upon awakening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4899. en:seizures tend to remit later in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures tend to remit later in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4900. en:seizures usually occur in the first months of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures usually occur in the first months of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4901. en:seizures usually remit in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures usually remit in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4902. en:seizures usually remit spontaneously by 12 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures usually remit spontaneously by 12 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4903. en:seizures, recurrent, refractory --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seizures, recurrent, refractory | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4904. en:sensorineural hearing loss may be presenting feature --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sensorineural hearing loss may be presenting feature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4905. en:sensory loss is rapidly progressive and severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sensory loss is rapidly progressive and severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4906. en:serum triglycerides decrease with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:serum triglycerides decrease with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4907. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4908. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4909. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4910. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4911. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4912. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4913. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4914. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4915. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4916. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4917. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4918. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4919. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4920. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4921. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4922. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4923. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4924. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4925. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4926. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4927. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4928. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4929. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4930. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4931. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4932. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4933. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4934. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4935. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4936. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4937. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4938. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4939. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4940. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4941. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4942. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4943. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4944. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4945. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4946. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4947. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4948. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4949. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4950. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4951. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4952. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4953. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4954. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4955. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4956. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4957. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4958. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4959. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4960. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4961. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4962. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4963. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4964. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4965. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4966. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4967. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4968. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4969. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4970. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4971. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4972. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4973. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4974. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4975. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4976. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4977. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4978. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4979. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4980. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4981. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4982. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4983. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4984. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4985. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4986. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4987. en:seven patients from 4 families in israel have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seven patients from 4 families in israel have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4988. en:seven patients reported (as of march 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seven patients reported (as of march 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4989. en:seventy percent of cases are stillborn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seventy percent of cases are stillborn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4990. en:seventy percent of cases have associated anomalies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:seventy percent of cases have associated anomalies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4991. en:several forms of autosomal recessive spastic paraplegia (see 270800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:several forms of autosomal recessive spastic paraplegia (see 270800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4992. en:severe ambulatory restriction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe ambulatory restriction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4993. en:severe clinical course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe clinical course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4994. en:severe course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4995. en:severe disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4996. en:severe epilepsy may lead to early death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe epilepsy may lead to early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4997. en:severe form with onset at 3 to 4 months of age and severe developmental delay --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe form with onset at 3 to 4 months of age and severe developmental delay | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4998. en:severe hearing loss by age 50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe hearing loss by age 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  4999. en:severe heat intolerance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe heat intolerance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5000. en:severe hypertension develops in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe hypertension develops in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5001. en:severe infantile cases usually die by 6 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe infantile cases usually die by 6 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5002. en:severe infantile form presents before 6 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe infantile form presents before 6 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5003. en:severe infections in untreated patients with neutropenia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe infections in untreated patients with neutropenia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5004. en:severe involvement of legs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe involvement of legs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5005. en:severe neurodegenerative course resulting in a comatose state or death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe neurodegenerative course resulting in a comatose state or death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5006. en:severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5007. en:severe phenotype onset - neonate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe phenotype onset - neonate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5008. en:severe volume depletion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe volume depletion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5009. en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5010. en:severely affected individuals may carry 2 mutated alleles --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severely affected individuals may carry 2 mutated alleles | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5011. en:severity of clinical phenotype varies both within and between kindreds --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severity of clinical phenotype varies both within and between kindreds | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5012. en:severity of hematologic disorder decreases with advancing age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severity of hematologic disorder decreases with advancing age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5013. en:severity of phenotype is not related to residual enzyme activity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severity of phenotype is not related to residual enzyme activity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5014. en:severity of phenotype may vary with x-inactivation patterns and/or mutation type --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5015. en:severity of skin symptoms may vary within families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:severity of skin symptoms may vary within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5016. en:sex ratio - 2 females to 1 male --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sex ratio - 2 females to 1 male | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5017. en:sex ratio - 2.3 males-to-1 female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sex ratio - 2.3 males-to-1 female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5018. en:sex ratio of 4-4.5 males to 1 female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sex ratio of 4-4.5 males to 1 female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5019. en:sexual infantilism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sexual infantilism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5020. en:shields classification - --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:shields classification - | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5021. en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5022. en:short limbs become more apparent during childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:short limbs become more apparent during childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5023. en:short stepped shuffling gait --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:short stepped shuffling gait | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5024. en:short survival (less than 10 years after onset) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:short survival (less than 10 years after onset) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5025. en:short umbilical cord --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:short umbilical cord | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5026. en:sib a developed symptoms after routine mmr vaccination --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sib a developed symptoms after routine mmr vaccination | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5027. en:sib b did not receive mmr vaccination and was asymptomatic in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5028. en:significant clinical overlap with sotos syndrome (117550) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:significant clinical overlap with sotos syndrome (117550) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5029. en:significant number of patients are stillborn or die in neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:significant number of patients are stillborn or die in neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5030. en:significant phenotypic variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:significant phenotypic variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5031. en:signs and symptoms depend on tumor location and activity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:signs and symptoms depend on tumor location and activity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5032. en:similar clinical phenotype to edsiii (130020) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:similar clinical phenotype to edsiii (130020) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5033. en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5034. en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5035. en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5036. en:similar to infantile neuroaxonal dystrophy (inad, 256600) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5037. en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5038. en:simple febrile seizures usually remit by age 6 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:simple febrile seizures usually remit by age 6 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5039. en:single lesions in sporadic cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:single lesions in sporadic cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5040. en:single mitochondrial dna deletions are found in sporadic kss patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:single mitochondrial dna deletions are found in sporadic kss patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5041. en:single umbilical artery --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:single umbilical artery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5042. en:sister of affected male siblings had mild learning disabilities and obesity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sister of affected male siblings had mild learning disabilities and obesity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5043. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5044. en:six genetically confirmed patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:six genetically confirmed patients have been reported (as of december 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5045. en:six patients from 1 saudi arabian family have been reported (last curated december 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5046. en:six patients from 4 families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:six patients from 4 families have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5047. en:six patients have been reported (5/18/2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:six patients have been reported (5/18/2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5048. en:six patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:six patients have been reported (as of july 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5049. en:six patients have been reported (as of october 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:six patients have been reported (as of october 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5050. en:six patients reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:six patients reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5051. en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5052. en:skeletal abnormalities are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skeletal abnormalities are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5053. en:skeletal and endocrine features have not been fully characterized in all of the patients reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5054. en:skeletal and facial features are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skeletal and facial features are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5055. en:skeletal features are variably present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skeletal features are variably present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5056. en:skewed x-inactivation in carriers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skewed x-inactivation in carriers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5057. en:skin abnormalities can be present at birth or appear later in infancy or childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin abnormalities can be present at birth or appear later in infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5058. en:skin abnormalities tend to decrease with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin abnormalities tend to decrease with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5059. en:skin and hair abnormalities apparent at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin and hair abnormalities apparent at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5060. en:skin appears normal at birth, with development of generalized ichthyosis in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5061. en:skin blistering and photosensitivity improve in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin blistering and photosensitivity improve in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5062. en:skin changes are progressive in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin changes are progressive in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5063. en:skin changes have onset in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin changes have onset in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5064. en:skin erythroderma may resolve early, leaving atrophic lesions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin erythroderma may resolve early, leaving atrophic lesions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5065. en:skin lesion appear shortly after birth and tend to disappear in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5066. en:skin lesions are fully penetrant by second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions are fully penetrant by second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5067. en:skin lesions are primarily trauma-induced but occasionally appear spontaneously --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5068. en:skin lesions exacerbated by heat, exercise (sweating), and sunlight --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5069. en:skin lesions improve in the summer --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions improve in the summer | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5070. en:skin lesions manifest in the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions manifest in the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5071. en:skin lesions on back, face, nape of neck, and waist tend to be mild --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions on back, face, nape of neck, and waist tend to be mild | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5072. en:skin lesions resolve between 6 months and 2 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions resolve between 6 months and 2 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5073. en:skin lesions tend to occur on distal extremities or at elbows and knees --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions tend to occur on distal extremities or at elbows and knees | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5074. en:skin lesions worsen with heat or sun exposure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin lesions worsen with heat or sun exposure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5075. en:skin manifestation less frequently observed in cold climates --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin manifestation less frequently observed in cold climates | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5076. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5077. en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5078. en:skin manifestations may not be present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin manifestations may not be present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5079. en:skin neoplasia may appear later in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin neoplasia may appear later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5080. en:skin peeling exacerbated by heat, friction, and humidity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin peeling exacerbated by heat, friction, and humidity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5081. en:skin wrinkling improves with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:skin wrinkling improves with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5082. en:slc25a4 mutations account for approximately 4% of all peo cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slc25a4 mutations account for approximately 4% of all peo cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5083. en:sleep disturbance or sleep apnea (obstructive, central, or mixed) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5084. en:sleep terrors usually remit during adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sleep terrors usually remit during adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5085. en:sleepwalking triggered by alcohol, sleep deprivation, stress --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sleepwalking triggered by alcohol, sleep deprivation, stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5086. en:sleepwalking usually remits in adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sleepwalking usually remits in adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5087. en:slight increased risk for malignancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slight increased risk for malignancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5088. en:slight male predominance (3:2) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slight male predominance (3:2) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5089. en:slightly increased female:male ratio (1.4:1 to 2:1) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slightly increased female:male ratio (1.4:1 to 2:1) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5090. en:slow course of functional deterioration compared to severity of mri findings --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slow course of functional deterioration compared to severity of mri findings | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5091. en:slow or nonprogressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slow or nonprogressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5092. en:slow progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slow progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5093. en:slow progression without marked disability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slow progression without marked disability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5094. en:slow, progressive growth, then stable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slow, progressive growth, then stable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5095. en:slowly or non-progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slowly or non-progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5096. en:slowly or nonprogressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slowly or nonprogressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5097. en:slowly progressive disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slowly progressive disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5098. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5099. en:slowly progressive or nonprogressive course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:slowly progressive or nonprogressive course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5100. en:small placenta --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:small placenta | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5101. en:smaller repeat lengths in younger generations (reverse anticipation) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:smaller repeat lengths in younger generations (reverse anticipation) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5102. en:solitary disease is more common in males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:solitary disease is more common in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5103. en:somatic mosaicism has been observed in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:somatic mosaicism has been observed in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5104. en:somatic mutations occur in adrenal tumor tissue (601639.0001) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5105. en:somatic or germline mosaicism may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:somatic or germline mosaicism may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5106. en:some affected family members are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some affected family members are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5107. en:some affected individuals have normal subsequent development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some affected individuals have normal subsequent development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5108. en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5109. en:some carrier females have episodes of significant hyperammonemia in infancy or childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5110. en:some carrier females have mild features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some carrier females have mild features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5111. en:some carrier females may manifest mild symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some carrier females may manifest mild symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5112. en:some familial occurrence, most de novo aberrations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some familial occurrence, most de novo aberrations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5113. en:some families have axonal cmt (cmt2m) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some families have axonal cmt (cmt2m) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5114. en:some features are variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features are variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5115. en:some features are variable, even within families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features are variable, even within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5116. en:some features are variably expressed --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features are variably expressed | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5117. en:some features are variably present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features are variably present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5118. en:some features may be progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features may be progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5119. en:some features may be variable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features may be variable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5120. en:some features not found in all patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features not found in all patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5121. en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5122. en:some female carriers are more mildly affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some female carriers are more mildly affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5123. en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5124. en:some female patients can conceive after administration of gonadotropins --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some female patients can conceive after administration of gonadotropins | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5125. en:some females are affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some females are affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5126. en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5127. en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5128. en:some heterozygotes may have increased urinary excretion of cystine and may develop stones --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5129. en:some heterozygous carriers exhibit accelerated age-related hearing loss --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some heterozygous carriers exhibit accelerated age-related hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5130. en:some heterozygous carriers may have mild manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some heterozygous carriers may have mild manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5131. en:some heterozygous cpt2 mutation carriers may be symptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some heterozygous cpt2 mutation carriers may be symptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5132. en:some individuals may be clinically asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some individuals may be clinically asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5133. en:some laboratory abnormalities may fluctuate or improve with time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some laboratory abnormalities may fluctuate or improve with time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5134. en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5135. en:some more severely affected patients may die in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some more severely affected patients may die in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5136. en:some mutation carriers have mild features of frontonasal dysplasia (613451) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5137. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5138. en:some patients acquire late ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients acquire late ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5139. en:some patients are asymptomatic and detected only by newborn screening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients are asymptomatic and detected only by newborn screening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5140. en:some patients are asymptomatic and diagnosed incidentally --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients are asymptomatic and diagnosed incidentally | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5141. en:some patients are clinically unaffected. --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients are clinically unaffected. | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5142. en:some patients become bedridden --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients become bedridden | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5143. en:some patients become wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5144. en:some patients become wheelchair-bound in second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients become wheelchair-bound in second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5145. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5146. en:some patients can attend special school --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients can attend special school | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5147. en:some patients can be treated with large doses of vitamin d and calcium --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients can be treated with large doses of vitamin d and calcium | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5148. en:some patients can hold menial jobs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients can hold menial jobs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5149. en:some patients carry heterozygous mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients carry heterozygous mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5150. en:some patients develop diabetes mellitus as adolescents --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients develop diabetes mellitus as adolescents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5151. en:some patients develop ophthalmoplegia in middle age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients develop ophthalmoplegia in middle age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5152. en:some patients do not achieve independent ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not achieve independent ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5153. en:some patients do not develop renal failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not develop renal failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5154. en:some patients do not develop stroke --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not develop stroke | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5155. en:some patients do not have bone disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not have bone disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5156. en:some patients do not have dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not have dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5157. en:some patients do not have thin corpus callosum --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not have thin corpus callosum | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5158. en:some patients do not manifest renal disease in the first decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not manifest renal disease in the first decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5159. en:some patients do not reach end-stage renal failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not reach end-stage renal failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5160. en:some patients do not show neurologic abnormalities or dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients do not show neurologic abnormalities or dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5161. en:some patients exhibit features of more than 1 type of cardiomyopathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients exhibit features of more than 1 type of cardiomyopathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5162. en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5163. en:some patients experience later reversal of hypogonadotropic hypogonadism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients experience later reversal of hypogonadotropic hypogonadism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5164. en:some patients experience respiratory infections in association with episodes of jaundice in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5165. en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5166. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5167. en:some patients have a crouzon-like appearance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have a crouzon-like appearance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5168. en:some patients have a milder nonprogressive phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have a milder nonprogressive phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5169. en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5170. en:some patients have a secreted but biologically inactive mutant leptin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have a secreted but biologically inactive mutant leptin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5171. en:some patients have a severe phenotype with neurologic manifestations beginning at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5172. en:some patients have additional neurologic involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have additional neurologic involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5173. en:some patients have an attenuated phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have an attenuated phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5174. en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5175. en:some patients have asymptomatic hypocalcemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have asymptomatic hypocalcemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5176. en:some patients have cessation of seizures at a mean of 12 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have cessation of seizures at a mean of 12 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5177. en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5178. en:some patients have isolated cfeom --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have isolated cfeom | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5179. en:some patients have juvenile-onset myoclonic epilepsy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have juvenile-onset myoclonic epilepsy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5180. en:some patients have later onset and more variable phenotype (mngie) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have later onset and more variable phenotype (mngie) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5181. en:some patients have later onset of the disorder as young adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have later onset of the disorder as young adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5182. en:some patients have lethal fetal akinesia with death in utero --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have lethal fetal akinesia with death in utero | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5183. en:some patients have milder persistent blistering --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have milder persistent blistering | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5184. en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5185. en:some patients have no clinical symptoms and are detected by routine newborn screening --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have no clinical symptoms and are detected by routine newborn screening | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5186. en:some patients have no manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have no manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5187. en:some patients have no neurologic abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have no neurologic abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5188. en:some patients have no or mild manifestations and normal development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have no or mild manifestations and normal development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5189. en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5190. en:some patients have only ocular involvement or only oral involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have only ocular involvement or only oral involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5191. en:some patients have only plantar surface involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have only plantar surface involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5192. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5193. en:some patients have persistence of seizures to adulthood, but then show remission --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have persistence of seizures to adulthood, but then show remission | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5194. en:some patients have resolution of symptoms in first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have resolution of symptoms in first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5195. en:some patients have subclinical exocrine pancreatic deficiency --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients have subclinical exocrine pancreatic deficiency | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5196. en:some patients may be asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may be asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5197. en:some patients may be asymptomatic and have only short telomeres --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may be asymptomatic and have only short telomeres | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5198. en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5199. en:some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may be clinically asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5200. en:some patients may become bedridden 10 to 20 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may become bedridden 10 to 20 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5201. en:some patients may become wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5202. en:some patients may benefit from coenzyme q10 treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may benefit from coenzyme q10 treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5203. en:some patients may develop concurrent failure to thrive and dyslipidemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may develop concurrent failure to thrive and dyslipidemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5204. en:some patients may develop interictal progressive ataxia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may develop interictal progressive ataxia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5205. en:some patients may die from cardiomyopathy in the first or second decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may die from cardiomyopathy in the first or second decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5206. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5207. en:some patients may have a milder phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have a milder phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5208. en:some patients may have a more protracted disorder with neurodegeneration --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have a more protracted disorder with neurodegeneration | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5209. en:some patients may have isolated cardiac involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have isolated cardiac involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5210. en:some patients may have isolated myokymia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have isolated myokymia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5211. en:some patients may have normal brain imaging --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have normal brain imaging | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5212. en:some patients may have normal development until onset of seizures in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have normal development until onset of seizures in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5213. en:some patients may have normal psychomotor development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have normal psychomotor development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5214. en:some patients may have residual muscle weakness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may have residual muscle weakness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5215. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5216. en:some patients may live to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may live to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5217. en:some patients may lose independent ambulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may lose independent ambulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5218. en:some patients may need surgery or renal transplant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may need surgery or renal transplant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5219. en:some patients may not achieve walking --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may not achieve walking | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5220. en:some patients may not have recurrent infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may not have recurrent infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5221. en:some patients may not present until adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may not present until adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5222. en:some patients may present with adult-onset small fiber neuropathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may present with adult-onset small fiber neuropathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5223. en:some patients may present with myopathic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may present with myopathic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5224. en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5225. en:some patients may respond to thiamine treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may respond to thiamine treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5226. en:some patients may show a favorable response to oral coenzyme q10 supplementation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may show a favorable response to oral coenzyme q10 supplementation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5227. en:some patients may show deterioration with infections --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may show deterioration with infections | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5228. en:some patients may show mild decrease in head circumference over time --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may show mild decrease in head circumference over time | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5229. en:some patients may show neurologic improvement late in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may show neurologic improvement late in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5230. en:some patients may show response to immunosuppressive agents --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients may show response to immunosuppressive agents | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5231. en:some patients never achieve sitting --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients never achieve sitting | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5232. en:some patients never achieve walking or running --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients never achieve walking or running | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5233. en:some patients never gain ambulation or become wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients never gain ambulation or become wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5234. en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5235. en:some patients present with spasticity, whereas others present with cerebellar ataxia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients present with spasticity, whereas others present with cerebellar ataxia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5236. en:some patients report cyclical changes in severity of symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients report cyclical changes in severity of symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5237. en:some patients report increased tolerance to heat --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients report increased tolerance to heat | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5238. en:some patients report seasonal variation in symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients report seasonal variation in symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5239. en:some patients require cardiac transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients require cardiac transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5240. en:some patients require insulin for treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients require insulin for treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5241. en:some patients respond to acetazolamide --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients respond to acetazolamide | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5242. en:some patients show a favorable response to sulfonylurea treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show a favorable response to sulfonylurea treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5243. en:some patients show delayed development from birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show delayed development from birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5244. en:some patients show improvement during summer or with fever --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show improvement during summer or with fever | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5245. en:some patients show improvement in muscle power in the teenage years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show improvement in muscle power in the teenage years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5246. en:some patients show infantile onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show infantile onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5247. en:some patients show no bleeding abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show no bleeding abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5248. en:some patients show normal development until onset of disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show normal development until onset of disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5249. en:some patients show onset in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show onset in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5250. en:some patients show onset later in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show onset later in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5251. en:some patients show rapid disease progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show rapid disease progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5252. en:some patients show significant clinical improvement with riboflavin supplementation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients show significant clinical improvement with riboflavin supplementation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5253. en:some patients survive infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients survive infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5254. en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5255. en:some patients with advanced loss of vision have normal eog --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients with advanced loss of vision have normal eog | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5256. en:some patients with heterozygous mutations may be symptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients with heterozygous mutations may be symptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5257. en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5258. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5259. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5260. en:some pedigrees are consistent with autosomal dominant inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some pedigrees are consistent with autosomal dominant inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5261. en:some people with a cnnm2 mutation are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some people with a cnnm2 mutation are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5262. en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5263. en:some phenotypic overlap with rett syndrome (312750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some phenotypic overlap with rett syndrome (312750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5264. en:some response to l-dopa therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some response to l-dopa therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5265. en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5266. en:sparing of some nails in some individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sparing of some nails in some individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5267. en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5268. en:spasticity is slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spasticity is slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5269. en:spasticity occurs before parkinsonism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spasticity occurs before parkinsonism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5270. en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5271. en:spectrum of laterality defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spectrum of laterality defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5272. en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5273. en:spinal involvement improves with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spinal involvement improves with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5274. en:spinal tumors are necessary for diagnosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spinal tumors are necessary for diagnosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5275. en:splenectomy increases thrombotic risk in these patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:splenectomy increases thrombotic risk in these patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5276. en:spontaneous bleeding is rare --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous bleeding is rare | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5277. en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5278. en:spontaneous improvement or resolution of skin creases in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous improvement or resolution of skin creases in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5279. en:spontaneous resolution by 12 months of age with no recurrence later in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous resolution by 12 months of age with no recurrence later in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5280. en:spontaneous resolution of seizures by 12 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous resolution of seizures by 12 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5281. en:spontaneous resolution usually after 12 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous resolution usually after 12 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5282. en:spontaneous resorption (rare) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous resorption (rare) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5283. en:spontaneous reversal of gnrh deficiency may occur in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous reversal of gnrh deficiency may occur in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5284. en:spontaneous tumor regression may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneous tumor regression may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5285. en:spontaneously resolves by 5 to 6 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spontaneously resolves by 5 to 6 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5286. en:sporadic cases often single lesions versus multiple lesions in familial cases --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sporadic cases often single lesions versus multiple lesions in familial cases | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5287. en:sporadic occurrence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sporadic occurrence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5288. en:sporadic occurrence is associated with advanced paternal age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sporadic occurrence is associated with advanced paternal age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5289. en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5290. en:spots occur in 95% of patients but can be absent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:spots occur in 95% of patients but can be absent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5291. en:stable or slowly progressive course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stable or slowly progressive course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5292. en:stage ii, rapid developmental regression (onset 1-4 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stage ii, rapid developmental regression (onset 1-4 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5293. en:stage iii, pseudostationary period (onset 2-10 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stage iii, pseudostationary period (onset 2-10 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5294. en:stage iv, late motor deterioration (when ambulation ceases) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stage iv, late motor deterioration (when ambulation ceases) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5295. en:static or slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:static or slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5296. en:static, nonprogressive disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:static, nonprogressive disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5297. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5298. en:stillbirth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stillbirth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5299. en:stillborn or death in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stillborn or death in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5300. en:stillborn or death shortly after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stillborn or death shortly after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5301. en:stillborn or infantile death usual in prenatal form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stillborn or infantile death usual in prenatal form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5302. en:stillborn or lethal in the neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:stillborn or lethal in the neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5303. en:striking intrafamilial variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:striking intrafamilial variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5304. en:subclavian artery supply disruption in embryogenesis has been suggested as etiology --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5305. en:subset of patients have cytochrome c oxidase deficiency (see 220110) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5306. en:subset of patients have french-canadian leigh syndrome (220111) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subset of patients have french-canadian leigh syndrome (220111) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5307. en:subset of patients have leigh syndrome (256000) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subset of patients have leigh syndrome (256000) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5308. en:subtle facial phenotype compared to other types of hpe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subtle facial phenotype compared to other types of hpe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5309. en:subtle personality and behavioral changes are presenting signs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subtle personality and behavioral changes are presenting signs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5310. en:subtype 3a comprises myoclonus and dementia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subtype 3a comprises myoclonus and dementia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5311. en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5312. en:subtype 3c (231005) comprises cardiovascular calcifications --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subtype 3c (231005) comprises cardiovascular calcifications | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5313. en:subtype of migraine with aura --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:subtype of migraine with aura | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5314. en:successful treatment with oral isotretinoin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:successful treatment with oral isotretinoin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5315. en:sudden cardiac death frequent in affected families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden cardiac death frequent in affected families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5316. en:sudden cardiac death in some families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden cardiac death in some families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5317. en:sudden death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5318. en:sudden death due to cardiac arrhythmia may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death due to cardiac arrhythmia may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5319. en:sudden death due to cardiomyopathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death due to cardiomyopathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5320. en:sudden death in affected females occurs in the forties --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death in affected females occurs in the forties | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5321. en:sudden death in affected males occurs in teens --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death in affected males occurs in teens | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5322. en:sudden death may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5323. en:sudden death secondary to impaction of medulla oblongata --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death secondary to impaction of medulla oblongata | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5324. en:sudden death within first days of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden death within first days of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5325. en:sudden infant death may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden infant death may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5326. en:sudden infantile death may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:sudden infantile death may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5327. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5328. en:surgical intervention is not always curative --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:surgical intervention is not always curative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5329. en:survival 30 to 40 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival 30 to 40 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5330. en:survival greater than one year rare --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival greater than one year rare | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5331. en:survival past infancy is rare --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival past infancy is rare | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5332. en:survival to 10 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival to 10 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5333. en:survival to 20 years in severe form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival to 20 years in severe form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5334. en:survival to 20s-60s in iib --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival to 20s-60s in iib | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5335. en:survival to 5-15 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival to 5-15 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5336. en:survival to advanced age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survival to advanced age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5337. en:surviving infants develop severe nonbullous ichthyosiform erythroderma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5338. en:survivors develop dysautonomia-like symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survivors develop dysautonomia-like symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5339. en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5340. en:survivors may develop renal insufficiency and hepatic dysfunction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:survivors may develop renal insufficiency and hepatic dysfunction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5341. en:susceptibility to infections start in the first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:susceptibility to infections start in the first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5342. en:susceptibility to infections starts in the first week of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:susceptibility to infections starts in the first week of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5343. en:swelling starts to fade by age 30 years and gradually becomes unremarkable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5344. en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5345. en:symptom onset ranges from infancy to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptom onset ranges from infancy to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5346. en:symptomatic female carriers have been described in 1 japanese family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptomatic female carriers have been described in 1 japanese family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5347. en:symptomatic if > 200 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptomatic if > 200 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5348. en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5349. en:symptoms ameliorate with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms ameliorate with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5350. en:symptoms appear in early childhood and are progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms appear in early childhood and are progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5351. en:symptoms are aggravated by febrile illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms are aggravated by febrile illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5352. en:symptoms are not apparent at rest --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms are not apparent at rest | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5353. en:symptoms are not relieved by alcohol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms are not relieved by alcohol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5354. en:symptoms are often responsive to alcohol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms are often responsive to alcohol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5355. en:symptoms are responsive to cobalamin treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms are responsive to cobalamin treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5356. en:symptoms begin focally, later segmental or generalized --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms begin focally, later segmental or generalized | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5357. en:symptoms benefit from sleep --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms benefit from sleep | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5358. en:symptoms can be prevented by strict dietary restriction --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms can be prevented by strict dietary restriction | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5359. en:symptoms develop immediately after birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms develop immediately after birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5360. en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5361. en:symptoms improve during the summer --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms improve during the summer | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5362. en:symptoms improve following sleep --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms improve following sleep | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5363. en:symptoms improve with age, resulting in woolly hair with almost normal hair density --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5364. en:symptoms induced by strenuous exercise --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms induced by strenuous exercise | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5365. en:symptoms may be aggravated by acute illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms may be aggravated by acute illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5366. en:symptoms may be exacerbated by pregnancy or trauma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms may be exacerbated by pregnancy or trauma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5367. en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5368. en:symptoms may be precipitated by infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms may be precipitated by infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5369. en:symptoms may decrease after age 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms may decrease after age 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5370. en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5371. en:symptoms noted at 2-3 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms noted at 2-3 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5372. en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5373. en:symptoms occur only during sleep --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms occur only during sleep | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5374. en:symptoms of zinc deficiency occur only in exclusively breastfed infants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5375. en:symptoms often decrease or remit with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms often decrease or remit with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5376. en:symptoms often improve gradually with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms often improve gradually with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5377. en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5378. en:symptoms precipitated by exercise and excitement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by exercise and excitement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5379. en:symptoms precipitated by stress, exertion, fatigue, alcohol --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by stress, exertion, fatigue, alcohol | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5380. en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5381. en:symptoms precipitated by sudden movement, stress, exertion, fatigue --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5382. en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5383. en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5384. en:symptoms precipitated by sudden movements --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms precipitated by sudden movements | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5385. en:symptoms present as acute metabolic and clinical decompensation associated with infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms present as acute metabolic and clinical decompensation associated with infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5386. en:symptoms progress with worsening myopathy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms progress with worsening myopathy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5387. en:symptoms relieved by ovarian suppression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms relieved by ovarian suppression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5388. en:symptoms relieved by progesterone antagonist (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms relieved by progesterone antagonist (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5389. en:symptoms relieved by serotonin antagonist (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms relieved by serotonin antagonist (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5390. en:symptoms remain focal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms remain focal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5391. en:symptoms resolve over weeks to months with usually no residual symptoms between attacks --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5392. en:symptoms show insidious onset in the late first through third decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms show insidious onset in the late first through third decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5393. en:symptoms tend to improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms tend to improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5394. en:symptoms typically begin in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms typically begin in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5395. en:symptoms usually appear in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms usually appear in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5396. en:symptoms usually induced only by strenuous exercise --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms usually induced only by strenuous exercise | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5397. en:symptoms usually last 30-60 minutes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms usually last 30-60 minutes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5398. en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5399. en:symptoms usually occur in adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms usually occur in adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5400. en:symptoms usually resolve without treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms usually resolve without treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5401. en:symptoms vary according to location of tumor --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms vary according to location of tumor | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5402. en:symptoms vary from asymptomatic patients to patients with metabolic acidosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5403. en:symptoms worsen with fatigue and exercise --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:symptoms worsen with fatigue and exercise | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5404. en:syncope --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:syncope | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5405. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5406. en:systemic amyloid deposition may occur --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:systemic amyloid deposition may occur | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5407. en:systemic granulomatous disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:systemic granulomatous disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5408. en:systemic iron overload due to ineffective erythropoiesis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:systemic iron overload due to ineffective erythropoiesis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5409. en:t-cell lymphopenia is more severe early in life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:t-cell lymphopenia is more severe early in life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5410. en:teeth may undergo post-eruptive changes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:teeth may undergo post-eruptive changes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5411. en:telangiectases persist in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:telangiectases persist in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5412. en:telangiectasia become evident between the second and eighth year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:telangiectasia become evident between the second and eighth year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5413. en:temperature instability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:temperature instability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5414. en:tendency to lighter pigmentation than unaffected relatives --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tendency to lighter pigmentation than unaffected relatives | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5415. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5416. en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5417. en:the characteristic changes in the spine resolve by adolescence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the characteristic changes in the spine resolve by adolescence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5418. en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5419. en:the frequency is estimated at 1/20,000 to 1/50,000 births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the frequency is estimated at 1/20,000 to 1/50,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5420. en:the lower the s-ado:saicar ratio, the more severe the phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the lower the s-ado:saicar ratio, the more severe the phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5421. en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5422. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5423. en:the most studied group is efe pygmies from ituri forest in northeast zaire --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the most studied group is efe pygmies from ituri forest in northeast zaire | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5424. en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5425. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5426. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5427. en:therapy-induced dyskinesias --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:therapy-induced dyskinesias | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5428. en:there are several subtypes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:there are several subtypes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5429. en:thiamine supplementation may be beneficial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:thiamine supplementation may be beneficial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5430. en:thin, fine hair described in few individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:thin, fine hair described in few individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5431. en:this patient died at age 2 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:this patient died at age 2 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5432. en:this patient died at age 8 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:this patient died at age 8 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5433. en:this specific disorder has been described in 1 family (ke) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:this specific disorder has been described in 1 family (ke) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5434. en:thoracic abnormalities tend to improve with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:thoracic abnormalities tend to improve with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5435. en:thorax anomaly ameliorates with age (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:thorax anomaly ameliorates with age (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5436. en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5437. en:those with intermediate repeat expansions show reduced penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:those with intermediate repeat expansions show reduced penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5438. en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5439. en:three affected sibs have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three affected sibs have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5440. en:three amish patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three amish patients have been reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5441. en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5442. en:three families described (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families described (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5443. en:three families have been reported (as of 28 june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (as of 28 june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5444. en:three families have been reported (as of december 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (as of december 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5445. en:three families have been reported (as of september 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (as of september 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5446. en:three families have been reported (last curated april 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (last curated april 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5447. en:three families have been reported (last curated august 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (last curated august 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5448. en:three families have been reported (last curated july 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (last curated july 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5449. en:three families have been reported (last curated november 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (last curated november 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5450. en:three families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families have been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5451. en:three families of ashkenazi jewish descent have been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5452. en:three forms of cjd: acquired (including variant), sporadic, and inherited --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three forms of cjd: acquired (including variant), sporadic, and inherited | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5453. en:three girls from 2 unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three girls from 2 unrelated families have been reported (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5454. en:three main clinical forms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three main clinical forms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5455. en:three main phenotypes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three main phenotypes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5456. en:three major clinical forms are apparent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three major clinical forms are apparent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5457. en:three males in 1 family have been reported (last curated august 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three males in 1 family have been reported (last curated august 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5458. en:three out of 4 reported patients died (last curated may 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three out of 4 reported patients died (last curated may 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5459. en:three patients (2 related) reported (last curated march 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients (2 related) reported (last curated march 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5460. en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5461. en:three patients from 1 french canadian family have been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients from 1 french canadian family have been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5462. en:three patients from 1 mexican family has been reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients from 1 mexican family has been reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5463. en:three patients from 2 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients from 2 families have been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5464. en:three patients from 2 unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients from 2 unrelated families have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5465. en:three patients from 2 unrelated families have been reported (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients from 2 unrelated families have been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5466. en:three patients have been described (last curated january 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients have been described (last curated january 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5467. en:three patients have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5468. en:three patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients have been reported (as of august 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5469. en:three patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients have been reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5470. en:three patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients have been reported (as of november 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5471. en:three patients have been reported (as of october 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients have been reported (as of october 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5472. en:three patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5473. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5474. en:three patients reported, one with a wdpcp mutation (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5475. en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5476. en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5477. en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5478. en:three sibs in one consanguineous iranian family have been described (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5479. en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5480. en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5481. en:three times more common in males --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three times more common in males | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5482. en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5483. en:three types of cystinosis are recognized --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three types of cystinosis are recognized | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5484. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5485. en:three unrelated caucasian patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated caucasian patients have been reported (as of january 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5486. en:three unrelated families have been reported (as of june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (as of june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5487. en:three unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5488. en:three unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5489. en:three unrelated families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5490. en:three unrelated families have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5491. en:three unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated june 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5492. en:three unrelated families have been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5493. en:three unrelated families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5494. en:three unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5495. en:three unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated families have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5496. en:three unrelated french families have been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated french families have been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5497. en:three unrelated girls have been reported (as of july 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated girls have been reported (as of july 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5498. en:three unrelated males have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated males have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5499. en:three unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5500. en:three unrelated patients have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5501. en:three unrelated patients have been reported (last curated january 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated january 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5502. en:three unrelated patients have been reported (last curated july 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated july 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5503. en:three unrelated patients have been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5504. en:three unrelated patients have been reported (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5505. en:three unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5506. en:three unrelated patients have been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients have been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5507. en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5508. en:three unrelated probands have been reported (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three unrelated probands have been reported (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5509. en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5510. en:thromboembolism is the most common cause of death --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:thromboembolism is the most common cause of death | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5511. en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5512. en:thyroid carcinoma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:thyroid carcinoma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5513. en:time of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:time of analysis:tmstp:pt:xxx:qn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5514. en:toe-walking gait --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:toe-walking gait | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5515. en:tooth agenesis ranges from 1 missing tooth to marked oligodontia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5516. en:torso and upper body remain normal in shape and contour --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:torso and upper body remain normal in shape and contour | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5517. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5518. en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5519. en:trauma may accelerate symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:trauma may accelerate symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5520. en:trauma, anxiety, and/or stress can precipitate or aggravate edema --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5521. en:trauma, im injection, surgery can be foci of ectopic ossification --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:trauma, im injection, surgery can be foci of ectopic ossification | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5522. en:treatment with betaine, especially for pyridoxine nonresponders --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with betaine, especially for pyridoxine nonresponders | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5523. en:treatment with bh4 is effective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with bh4 is effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5524. en:treatment with coq10 may result in some clinical improvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with coq10 may result in some clinical improvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5525. en:treatment with dichloroacetate (dca) prolongs survival --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with dichloroacetate (dca) prolongs survival | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5526. en:treatment with enzyme replacement therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with enzyme replacement therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5527. en:treatment with folinic acid offers some benefit for anemia and seizure control --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with folinic acid offers some benefit for anemia and seizure control | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5528. en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5529. en:treatment with levodopa is not effective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with levodopa is not effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5530. en:treatment with oral coenzyme q may ameliorate symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with oral coenzyme q may ameliorate symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5531. en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5532. en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5533. en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5534. en:treatment with riboflavin has been helpful in some patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with riboflavin has been helpful in some patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5535. en:treatment with serine and glycine replacement may alleviate features if started at birth --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with serine and glycine replacement may alleviate features if started at birth | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5536. en:treatment with tnf inhibitors may be beneficial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with tnf inhibitors may be beneficial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5537. en:treatment with vitamin d and phosphate is effective --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:treatment with vitamin d and phosphate is effective | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5538. en:tremor is aggravated by emotional stress --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tremor is aggravated by emotional stress | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5539. en:tremor is aggravated by low glucose or light --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tremor is aggravated by low glucose or light | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5540. en:tremor may be elicited by movement or postural maintenance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tremor may be elicited by movement or postural maintenance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5541. en:tremors develop after seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tremors develop after seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5542. en:triggered by exercise, fasting, or other metabolic stresses --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:triggered by exercise, fasting, or other metabolic stresses | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5543. en:triggered by minor head trauma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:triggered by minor head trauma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5544. en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5545. en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5546. en:triggers are variable, even within a family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:triggers are variable, even within a family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5547. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5548. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5549. en:truncating mutations in crebbp found in 10% of patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:truncating mutations in crebbp found in 10% of patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5550. en:tumor predisposition syndrome --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tumor predisposition syndrome | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5551. en:tumor suppressor genes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tumor suppressor genes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5552. en:tumors are microsatellite stable --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tumors are microsatellite stable | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5553. en:tumors may show spontaneous regression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tumors may show spontaneous regression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5554. en:tumors usually develop between 40 and 60 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:tumors usually develop between 40 and 60 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5555. en:twelve or more lesions per eye in individuals over 60 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:twelve or more lesions per eye in individuals over 60 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5556. en:twenty-five percent of affected babies are stillborn --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:twenty-five percent of affected babies are stillborn | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5557. en:twinning due to superfetation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:twinning due to superfetation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5558. en:two adult sibs have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two adult sibs have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5559. en:two affected females have been reported (last curated november 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two affected females have been reported (last curated november 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5560. en:two affected sibs have been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two affected sibs have been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5561. en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5562. en:two arab muslim families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two arab muslim families have been reported (last curated october 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5563. en:two autosomal dominant families have been reported (as of may 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two autosomal dominant families have been reported (as of may 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5564. en:two brothers in a french family have been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two brothers in a french family have been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5565. en:two chinese sisters and one chinese woman have been described (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5566. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5567. en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5568. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5569. en:two consanguineous families with 2 patients each have been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5570. en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5571. en:two consanguineous lebanese families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two consanguineous lebanese families have been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5572. en:two consanguineous pakistan families have been described --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two consanguineous pakistan families have been described | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5573. en:two consanguineous turkish families have been reported (as of august 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two consanguineous turkish families have been reported (as of august 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5574. en:two consanguineous turkish families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two consanguineous turkish families have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5575. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5576. en:two families described (last curated july 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families described (last curated july 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5577. en:two families described (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families described (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5578. en:two families each with two affected children have been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families each with two affected children have been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5579. en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5580. en:two families have been reported (as of 6/2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (as of 6/2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5581. en:two families have been reported (as of curation date april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (as of curation date april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5582. en:two families have been reported (as of june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (as of june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5583. en:two families have been reported (as of may 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (as of may 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5584. en:two families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5585. en:two families have been reported (last curated december 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (last curated december 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5586. en:two families have been reported (last curated december 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (last curated december 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5587. en:two families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5588. en:two families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5589. en:two families have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5590. en:two families have been reported (september 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families have been reported (september 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5591. en:two families of canadian origin have been reported (last curated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families of canadian origin have been reported (last curated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5592. en:two families of french-canadian origin have been reported (last curated december 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families of french-canadian origin have been reported (last curated december 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5593. en:two families reported (last curated february 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families reported (last curated february 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5594. en:two families reported (last curated september 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families reported (last curated september 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5595. en:two families with different phenotypes have been reported (as of september 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two families with different phenotypes have been reported (as of september 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5596. en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5597. en:two fetuses have been reported (as of august 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two fetuses have been reported (as of august 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5598. en:two forms: iia (severe) and iib (mild) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two forms: iia (severe) and iib (mild) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5599. en:two japanese brothers have been reported (as of september 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two japanese brothers have been reported (as of september 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5600. en:two japanese families have been reported (as of february 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two japanese families have been reported (as of february 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5601. en:two japanese patients have been reported (last curated march 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two japanese patients have been reported (last curated march 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5602. en:two jordanian sibs have been reported (last curated november 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two jordanian sibs have been reported (last curated november 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5603. en:two loci control synthesis of c4, c4a (120810) and c4b (120820) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5604. en:two loci described - eec1 (129900) and eec3 (604292) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two loci described - eec1 (129900) and eec3 (604292) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5605. en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5606. en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5607. en:two main phenotypes, metabolic and neurologic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two main phenotypes, metabolic and neurologic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5608. en:two main phenotypes, severe and mild --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two main phenotypes, severe and mild | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5609. en:two main presentations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two main presentations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5610. en:two mother and child pairs have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two mother and child pairs have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5611. en:two of 3 patients became wheelchair-bound --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two of 3 patients became wheelchair-bound | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5612. en:two of 6 patients became wheelchair-bound by age 20 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two of 6 patients became wheelchair-bound by age 20 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5613. en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5614. en:two pakistani families have been reported (last curated december 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two pakistani families have been reported (last curated december 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5615. en:two pakistani families reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two pakistani families reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5616. en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5617. en:two patients from 1 italian family have been reported (as of april 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients from 1 italian family have been reported (as of april 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5618. en:two patients from spain have been reported (as of january 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients from spain have been reported (as of january 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5619. en:two patients have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5620. en:two patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients have been reported (as of august 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5621. en:two patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients have been reported (as of august 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5622. en:two patients in one ashkenzai jewish family described (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients in one ashkenzai jewish family described (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5623. en:two patients reported (last curated may 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients reported (last curated may 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5624. en:two patients required liver transplantation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients required liver transplantation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5625. en:two patients with a wws phenotype have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients with a wws phenotype have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5626. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5627. en:two patients with point mutations in rad21 have been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5628. en:two patients without cardiomyopathy or cataracts have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two patients without cardiomyopathy or cataracts have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5629. en:two peaks of onset, childhood and adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two peaks of onset, childhood and adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5630. en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5631. en:two probands have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two probands have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5632. en:two related patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two related patients have been reported (as of november 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5633. en:two siblings of consanguineous turkish parents have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two siblings of consanguineous turkish parents have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5634. en:two sibs and an unrelated fetus have been reported (last curated february 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5635. en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5636. en:two sibs died before 2 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs died before 2 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5637. en:two sibs have been reported (last curated july 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs have been reported (last curated july 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5638. en:two sibs have been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs have been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5639. en:two sibs have been reported (last curated may 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs have been reported (last curated may 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5640. en:two sibs have been reported (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs have been reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5641. en:two sibs have been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs have been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5642. en:two sibs, a boy and a girl, have been reported (as of july 2009) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sibs, a boy and a girl, have been reported (as of july 2009) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5643. en:two sisters have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sisters have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5644. en:two sisters have been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sisters have been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5645. en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5646. en:two subtypes - seminoma and nonseminoma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two subtypes - seminoma and nonseminoma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5647. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5648. en:two subtypes noninflammatory type a and inflammatory type b --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two subtypes noninflammatory type a and inflammatory type b | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5649. en:two subtypes, episodic (85% of patients) and chronic (15%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two subtypes, episodic (85% of patients) and chronic (15%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5650. en:two thirds of patients are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two thirds of patients are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5651. en:two types - lethal neonatal and less severe, late onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two types - lethal neonatal and less severe, late onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5652. en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5653. en:two types - severe infantile form (type i) and milder form (type ii) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two types - severe infantile form (type i) and milder form (type ii) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5654. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5655. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5656. en:two unrelated boys have been reported (last curated october 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated boys have been reported (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5657. en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5658. en:two unrelated chinese families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated chinese families have been reported (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5659. en:two unrelated chinese families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated chinese families have been reported (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5660. en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5661. en:two unrelated consanguineous families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated consanguineous families have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5662. en:two unrelated consanguineous families have been reported (last curated january 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated consanguineous families have been reported (last curated january 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5663. en:two unrelated consanguineous families have been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated consanguineous families have been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5664. en:two unrelated consanguineous families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated consanguineous families have been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5665. en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5666. en:two unrelated families have been reported (as of july 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (as of july 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5667. en:two unrelated families have been reported (as of october 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (as of october 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5668. en:two unrelated families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5669. en:two unrelated families have been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5670. en:two unrelated families have been reported (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5671. en:two unrelated families have been reported (last curated august 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5672. en:two unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated august 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5673. en:two unrelated families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5674. en:two unrelated families have been reported (last curated december 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated december 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5675. en:two unrelated families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5676. en:two unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5677. en:two unrelated families have been reported (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5678. en:two unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated july 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5679. en:two unrelated families have been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5680. en:two unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated june 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5681. en:two unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated june 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5682. en:two unrelated families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated march 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5683. en:two unrelated families have been reported (last curated may 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated may 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5684. en:two unrelated families have been reported (last curated may 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated may 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5685. en:two unrelated families have been reported (last curated november 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated november 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5686. en:two unrelated families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated november 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5687. en:two unrelated families have been reported (last curated november 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated november 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5688. en:two unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated october 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5689. en:two unrelated families have been reported (last curated september 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated september 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5690. en:two unrelated families have been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5691. en:two unrelated families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5692. en:two unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported (last curated september 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5693. en:two unrelated families have been reported to have hpca mutations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families have been reported to have hpca mutations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5694. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5695. en:two unrelated families of european descent have been reported (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families of european descent have been reported (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5696. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5697. en:two unrelated girls reported (last curated october 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated girls reported (last curated october 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5698. en:two unrelated individuals have been reported (last curated january 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated individuals have been reported (last curated january 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5699. en:two unrelated japanese families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated japanese families have been reported (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5700. en:two unrelated japanese patients have been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated japanese patients have been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5701. en:two unrelated japanese patients have been reported (last curated may 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated japanese patients have been reported (last curated may 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5702. en:two unrelated men have been reported (last curated march 2016) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated men have been reported (last curated march 2016) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5703. en:two unrelated patients had multiple congenital anomalies and died in early infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients had multiple congenital anomalies and died in early infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5704. en:two unrelated patients have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5705. en:two unrelated patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (as of august 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5706. en:two unrelated patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (as of january 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5707. en:two unrelated patients have been reported (as of june 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (as of june 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5708. en:two unrelated patients have been reported (as of may 2011) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (as of may 2011) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5709. en:two unrelated patients have been reported (last curated april 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated april 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5710. en:two unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated april 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5711. en:two unrelated patients have been reported (last curated april 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated april 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5712. en:two unrelated patients have been reported (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5713. en:two unrelated patients have been reported (last curated december 2010) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated december 2010) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5714. en:two unrelated patients have been reported (last curated december 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated december 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5715. en:two unrelated patients have been reported (last curated december 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated december 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5716. en:two unrelated patients have been reported (last curated february 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated february 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5717. en:two unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated january 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5718. en:two unrelated patients have been reported (last curated july 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated july 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5719. en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5720. en:two unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated july 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5721. en:two unrelated patients have been reported (last curated june 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated june 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5722. en:two unrelated patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated june 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5723. en:two unrelated patients have been reported (last curated june 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated june 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5724. en:two unrelated patients have been reported (last curated march 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated march 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5725. en:two unrelated patients have been reported (last curated may 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated may 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5726. en:two unrelated patients have been reported (last curated october 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated october 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5727. en:two unrelated patients have been reported (last curated october 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated october 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5728. en:two unrelated patients have been reported (last curated october 2015) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated october 2015) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5729. en:two unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported (last curated september 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5730. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5731. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5732. en:two unrelated patients reported (last curated september 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients reported (last curated september 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5733. en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5734. en:two unrelated patients with confirmed mutations have been reported (as of january 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5735. en:two unrelated patients with different phenotypes have been reported (as of march 2012) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5736. en:two unrelated patients with epileptic encephalopathy have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients with epileptic encephalopathy have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5737. en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5738. en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5739. en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5740. en:type 1 - associated with osteogenesis imperfecta (125490) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 1 - associated with osteogenesis imperfecta (125490) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5741. en:type 1 porencephaly is usually unilateral and results from destructive lesions --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 1 porencephaly is usually unilateral and results from destructive lesions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5742. en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5743. en:type 2 porencephaly is usually symmetrical and results from developmental malformation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5744. en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5745. en:type 2a is characterized by deficiency of high molecular weight monomers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2a is characterized by deficiency of high molecular weight monomers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5746. en:type 2b is characterized by increased affinity for platelet glycoprotein 1b --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5747. en:type 2cb is characterized by defective binding affinity for collagen types i and iii --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5748. en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5749. en:type 2n is characterized by decreased binding affinity for factor viii --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2n is characterized by decreased binding affinity for factor viii | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5750. en:type 2n shows autosomal recessive inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 2n shows autosomal recessive inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5751. en:type 3 - brandywine isolate opalescent dentin (125500) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 3 - brandywine isolate opalescent dentin (125500) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5752. en:type 3: craniosynostosis, early demise, sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type 3: craniosynostosis, early demise, sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5753. en:type a characterized by progressive myoclonic epilepsy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type a characterized by progressive myoclonic epilepsy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5754. en:type b characterized by dementia, motor disturbances, and facial dyskinesia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5755. en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5756. en:type i has most severe manifestations by age 4-5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type i has most severe manifestations by age 4-5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5757. en:type i is infantile-onset, severe --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type i is infantile-onset, severe | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5758. en:type i onset at 8 to 15 months of age after normal development --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type i onset at 8 to 15 months of age after normal development | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5759. en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5760. en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5761. en:type ii is adult-onset (kanzaki disease, 609242) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type ii is adult-onset (kanzaki disease, 609242) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5762. en:type ii is progressive and leads to shortened lifespan --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type ii is progressive and leads to shortened lifespan | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5763. en:type ii patients are usually japanese and have significant aprt activity (10-25%) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5764. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5765. en:type iia tends to have more severe phenotype with earlier onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type iia tends to have more severe phenotype with earlier onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5766. en:type iii is intermediate form --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type iii is intermediate form | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5767. en:type iiia has both liver and muscle involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type iiia has both liver and muscle involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5768. en:type iiib liver involvement only (15% of all cases) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:type iiib liver involvement only (15% of all cases) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5769. en:types of psoriasis include - plaque, guttate, erythrodermic, pustular --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5770. en:typical attacks last from seconds to minutes, but longer occurrences have been reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5771. en:typical onset in adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:typical onset in adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5772. en:typically no physical features of albright hereditary osteodystrophy (aho) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:typically no physical features of albright hereditary osteodystrophy (aho) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5773. en:typically sporadic occurrence --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:typically sporadic occurrence | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5774. en:u-shaped pattern of temperature-dependent potassium flux (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5775. en:u.s. frequency higher in blacks than whites --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:u.s. frequency higher in blacks than whites | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5776. en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5777. en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5778. en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5779. en:ultrasound detection in second trimester of pregnancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ultrasound detection in second trimester of pregnancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5780. en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5781. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5782. en:uncommon and rare features seen in the most severely affected patients --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:uncommon and rare features seen in the most severely affected patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5783. en:uncommon disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:uncommon disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5784. en:uniparental disomy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:uniparental disomy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5785. en:unusual cabbage-like odor --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:unusual cabbage-like odor | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5786. en:unusual skill with jigsaw puzzle --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:unusual skill with jigsaw puzzle | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5787. en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5788. en:up to 50% of patients may have various additional congenital anomalies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:up to 50% of patients may have various additional congenital anomalies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5789. en:up to 60% of female mutation carriers develop lobular breast cancer --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:up to 60% of female mutation carriers develop lobular breast cancer | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5790. en:upper limb involvement in first decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:upper limb involvement in first decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5791. en:upper limb involvement may occur later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:upper limb involvement may occur later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5792. en:upper limb involvement occur later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:upper limb involvement occur later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5793. en:upper limb involvement usually occurs later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:upper limb involvement usually occurs later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5794. en:upper urinary tract usually normal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:upper urinary tract usually normal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5795. 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:two unrelated families have been reported (last curated february 2016)
    n1=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5796. en:urine turns dark on standing and alkalinization --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:urine turns dark on standing and alkalinization | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5797. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5798. en:ush3 cases account for 40% of all usher patients in finland --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:ush3 cases account for 40% of all usher patients in finland | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5799. en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5800. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5801. en:usual age of onset in the 20s and 30s --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usual age of onset in the 20s and 30s | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5802. en:usual onset before age 6 years and death by age 20 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usual onset before age 6 years and death by age 20 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5803. en:usual onset under age 30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usual onset under age 30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5804. en:usually a manifestation of the carney complex (cnc1, 1609890) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually a manifestation of the carney complex (cnc1, 1609890) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5805. en:usually a sporadic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually a sporadic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5806. en:usually adult onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5807. en:usually affects children --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually affects children | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5808. en:usually asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5809. en:usually begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually begins in feet and legs (peroneal distribution) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5810. en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5811. en:usually clinically asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually clinically asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5812. en:usually death in utero or rarely in neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually death in utero or rarely in neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5813. en:usually fatal --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually fatal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5814. en:usually fatal by age 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually fatal by age 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5815. en:usually fatal in first 2 decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually fatal in first 2 decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5816. en:usually fatal in infancy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually fatal in infancy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5817. en:usually fatal within the first few weeks of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually fatal within the first few weeks of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5818. en:usually favorable response to treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually favorable response to treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5819. en:usually follows a static course or is slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually follows a static course or is slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5820. en:usually lethal in the neonatal period --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually lethal in the neonatal period | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5821. en:usually no increased fragility of hair --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually no increased fragility of hair | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5822. en:usually occurs in children younger than 5 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually occurs in children younger than 5 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5823. en:usually occurs in young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually occurs in young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5824. en:usually occurs in young adults --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually occurs in young adults | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5825. en:usually poor response to steroid treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually poor response to steroid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5826. en:usually presents in third to fourth decade (but onset can range from childhood to elderly) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5827. en:usually progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5828. en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5829. en:usually sporadic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually sporadic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5830. en:usually sporadic disorder resulting from de novo 22q11.2 deletion --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5831. en:usually sporadic, but 1-2% of cases are familial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually sporadic, but 1-2% of cases are familial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5832. en:usually sporadic, few cases described with autosomal dominant inheritance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually sporadic, few cases described with autosomal dominant inheritance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5833. en:usually symptomatic in adulthood with history of weakness since infancy or childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5834. en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5835. en:variability in age of onset and severity of disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variability in age of onset and severity of disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5836. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5837. en:variable abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5838. en:variable age at diagnosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at diagnosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5839. en:variable age at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5840. en:variable age at onset (8 to 62 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (8 to 62 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5841. en:variable age at onset (birth to adolescence) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (birth to adolescence) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5842. en:variable age at onset (birth to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (birth to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5843. en:variable age at onset (childhood to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (childhood to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5844. en:variable age at onset (childhood to adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (childhood to adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5845. en:variable age at onset (childhood to age 50) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (childhood to age 50) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5846. en:variable age at onset (earliest reported 7 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (earliest reported 7 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5847. en:variable age at onset (infant to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (infant to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5848. en:variable age at onset (late childhood to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (late childhood to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5849. en:variable age at onset (range 10 to 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 10 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5850. en:variable age at onset (range 14 to 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 14 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5851. en:variable age at onset (range 15 to 60 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 15 to 60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5852. en:variable age at onset (range 2 to 48 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 2 to 48 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5853. en:variable age at onset (range 2 to 59 years, mean 24 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 2 to 59 years, mean 24 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5854. en:variable age at onset (range 25 to 78 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 25 to 78 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5855. en:variable age at onset (range 4 to 40 years, mostly in first or second decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5856. en:variable age at onset (range 6 to 54 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 6 to 54 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5857. en:variable age at onset (range 8 to 60 years, mean 32) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 8 to 60 years, mean 32) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5858. en:variable age at onset (range 9 to 78 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range 9 to 78 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5859. en:variable age at onset (range adolescence to late adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range adolescence to late adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5860. en:variable age at onset (range birth to 60 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range birth to 60 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5861. en:variable age at onset (range birth to teenage years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range birth to teenage years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5862. en:variable age at onset (range childhood to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range childhood to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5863. en:variable age at onset (range childhood to adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range childhood to adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5864. en:variable age at onset (range childhood to late adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range childhood to late adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5865. en:variable age at onset (range childhood to mid-sixties) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range childhood to mid-sixties) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5866. en:variable age at onset (range first to fourth decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range first to fourth decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5867. en:variable age at onset (range first to third decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range first to third decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5868. en:variable age at onset (range from early childhood to mid-adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range from early childhood to mid-adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5869. en:variable age at onset (range infancy to 30 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range infancy to 30 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5870. en:variable age at onset (range infancy to adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range infancy to adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5871. en:variable age at onset (range infancy to late adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range infancy to late adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5872. en:variable age at onset (range infancy to young adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range infancy to young adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5873. en:variable age at onset (range late infancy to adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range late infancy to adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5874. en:variable age at onset (range prenatal to mid-adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range prenatal to mid-adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5875. en:variable age at onset (range teenage to adult years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range teenage to adult years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5876. en:variable age at onset (range teens to late adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (range teens to late adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5877. en:variable age at onset (usually 20 to 30 years of age) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset (usually 20 to 30 years of age) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5878. en:variable age at onset from childhood to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset from childhood to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5879. en:variable age at onset of arrhythmia (range 12 to 59 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset of arrhythmia (range 12 to 59 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5880. en:variable age at onset of neuropathy (range first to sixth decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset of neuropathy (range first to sixth decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5881. en:variable age at onset of seizures --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset of seizures | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5882. en:variable age at onset of symptoms (from childhood to the sixth decade of life) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5883. en:variable age at onset of symptoms, from second to fifth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset of symptoms, from second to fifth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5884. en:variable age at onset of symptoms, ranging from the second to seventh decades of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5885. en:variable age at onset, but most often in the first 2 decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, but most often in the first 2 decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5886. en:variable age at onset, but usually in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, but usually in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5887. en:variable age at onset, early childhood to adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, early childhood to adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5888. en:variable age at onset, first to second decades --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, first to second decades | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5889. en:variable age at onset, from birth to ninth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, from birth to ninth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5890. en:variable age at onset, from first decade to fourth or fifth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, from first decade to fourth or fifth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5891. en:variable age at onset, infancy to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, infancy to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5892. en:variable age at onset, most often in second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, most often in second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5893. en:variable age at onset, mostly in third decade (range teenage years to fourth decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5894. en:variable age at onset, range from infancy to adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, range from infancy to adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5895. en:variable age at onset, range infancy to adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, range infancy to adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5896. en:variable age at onset, ranges from third to fifth decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, ranges from third to fifth decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5897. en:variable age at onset, ranging from 18 months to 27 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, ranging from 18 months to 27 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5898. en:variable age at onset, ranging from childhood to adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, ranging from childhood to adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5899. en:variable age at onset, ranging from childhood to late adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, ranging from childhood to late adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5900. en:variable age at onset, ranging from prelingual at birth to fifth decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, ranging from prelingual at birth to fifth decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5901. en:variable age at onset, usually first or second decade --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, usually first or second decade | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5902. en:variable age at onset, usually in first decade, but can occur later --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age at onset, usually in first decade, but can occur later | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5903. 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:two unrelated families have been reported (last curated february 2016)
    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:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5904. en:variable age of onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5905. en:variable age of onset (20 to 35 years old) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (20 to 35 years old) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5906. en:variable age of onset (6 to 35 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (6 to 35 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5907. en:variable age of onset (7-59 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (7-59 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5908. en:variable age of onset (childhood to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (childhood to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5909. en:variable age of onset (childhood to adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (childhood to adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5910. en:variable age of onset (childhood to young adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (childhood to young adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5911. en:variable age of onset (first to third decades) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (first to third decades) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5912. en:variable age of onset (infancy to 63 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (infancy to 63 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5913. en:variable age of onset (range 1 to 30 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (range 1 to 30 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5914. en:variable age of onset (range 1-40 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (range 1-40 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5915. en:variable age of onset (range 13 to 67 years, median 48 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (range 13 to 67 years, median 48 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5916. en:variable age of onset (range 4 months to 45 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (range 4 months to 45 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5917. en:variable age of onset (range 4 to 47 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (range 4 to 47 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5918. en:variable age of onset (range early childhood to adult) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (range early childhood to adult) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5919. en:variable age of onset (range first to third decade) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset (range first to third decade) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5920. en:variable age of onset of parkinsonism (first decade to adulthood) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset of parkinsonism (first decade to adulthood) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5921. en:variable age of onset of renal manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset of renal manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5922. en:variable age of onset, from 6 to 50 years of age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset, from 6 to 50 years of age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5923. en:variable age of onset, from early childhood to seventh decade of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset, from early childhood to seventh decade of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5924. en:variable age of onset, ranging from 11 to 50 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable age of onset, ranging from 11 to 50 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5925. en:variable cardiac defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable cardiac defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5926. en:variable cardiac phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable cardiac phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5927. en:variable cataract phenotypes within a family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable cataract phenotypes within a family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5928. en:variable clinical features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable clinical features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5929. en:variable clinical phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable clinical phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5930. en:variable clinical presentation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable clinical presentation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5931. en:variable clinical presentation ranging from acute onset to normal adult --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable clinical presentation ranging from acute onset to normal adult | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5932. en:variable clinical presentation that may change with age --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable clinical presentation that may change with age | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5933. en:variable clinical severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable clinical severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5934. en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5935. en:variable disease course --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable disease course | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5936. en:variable disease severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable disease severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5937. en:variable distribution, may be focal, segmental, multifocal, or generalized --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable distribution, may be focal, segmental, multifocal, or generalized | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5938. en:variable duration (minutes to hours) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable duration (minutes to hours) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5939. en:variable dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5940. en:variable expression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5941. en:variable expression and severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expression and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5942. en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5943. en:variable expression of features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expression of features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5944. en:variable expressivity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expressivity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5945. en:variable expressivity in families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expressivity in families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5946. en:variable expressivity of each feature --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expressivity of each feature | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5947. en:variable expressivity within a family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expressivity within a family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5948. en:variable expressivity, even within families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expressivity, even within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5949. en:variable expressivity, some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable expressivity, some patients may be clinically asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5950. en:variable extraneurologic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable extraneurologic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5951. en:variable facial dysmorphic features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable facial dysmorphic features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5952. en:variable features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5953. en:variable features and severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable features and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5954. en:variable features present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable features present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5955. en:variable frequency (2 per day up to 1 per month) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable frequency (2 per day up to 1 per month) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5956. en:variable frequency (daily to monthly) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable frequency (daily to monthly) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5957. en:variable frequency (weekly to yearly) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable frequency (weekly to yearly) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5958. en:variable frequency and duration of episodes --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable frequency and duration of episodes | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5959. en:variable frequency and severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable frequency and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5960. en:variable heat tolerance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable heat tolerance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5961. en:variable ictal semiology --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable ictal semiology | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5962. en:variable infectious phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable infectious phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5963. en:variable involvement of hematologic parameters --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable involvement of hematologic parameters | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5964. en:variable locations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable locations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5965. en:variable manifestation of features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable manifestation of features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5966. en:variable manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5967. en:variable neurologic phenotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable neurologic phenotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5968. en:variable neuroradiologic findings --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable neuroradiologic findings | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5969. en:variable number of nails involved --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable number of nails involved | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5970. en:variable onset of seizures from neonatal to first year of life --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable onset of seizures from neonatal to first year of life | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5971. en:variable onset, from infancy to young adulthood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable onset, from infancy to young adulthood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5972. en:variable pattern of body involvement although symptoms may predominate in upper or lower body --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5973. en:variable penetrance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable penetrance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5974. en:variable penetrance and expressivity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable penetrance and expressivity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5975. en:variable penetrance of these features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable penetrance of these features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5976. en:variable phenotype (myotonia may or may not be present) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype (myotonia may or may not be present) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5977. en:variable phenotype (range from completely female to males with mild undermasculinization) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype (range from completely female to males with mild undermasculinization) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5978. en:variable phenotype and severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5979. en:variable phenotype depending on residual enzyme activity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype depending on residual enzyme activity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5980. en:variable phenotype ranging from woolly to sparse hair, even within a single family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype ranging from woolly to sparse hair, even within a single family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5981. en:variable phenotype within and between oi5 families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype within and between oi5 families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5982. en:variable phenotype within families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5983. en:variable phenotype within families ranging from woolly hair to hypotrichosis --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype within families ranging from woolly hair to hypotrichosis | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5984. en:variable phenotype, particularly with regard to cortical malformations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype, particularly with regard to cortical malformations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5985. en:variable phenotype, some patients have very mild symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotype, some patients have very mild symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5986. en:variable phenotypic expression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotypic expression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5987. en:variable phenotypic expression within same individual in each eye (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotypic expression within same individual in each eye (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5988. en:variable phenotypic features cataloged depending on development of fetus or infant --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable phenotypic features cataloged depending on development of fetus or infant | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5989. en:variable presentation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable presentation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5990. en:variable presentation and evolution of symptoms --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable presentation and evolution of symptoms | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5991. en:variable presentation and manifestations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable presentation and manifestations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5992. en:variable presentation of clinical features --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable presentation of clinical features | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5993. en:variable progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5994. en:variable progression rate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable progression rate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5995. en:variable response to acetazolamide and carbamazepine --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable response to acetazolamide and carbamazepine | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5996. en:variable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable response to acetylcholinesterase inhibitors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5997. en:variable response to levodopa treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable response to levodopa treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5998. en:variable response to steroid treatment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable response to steroid treatment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5999. en:variable response to vitamin b12 therapy --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable response to vitamin b12 therapy | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6000. en:variable severity (in patients with hsan2d) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity (in patients with hsan2d) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6001. en:variable severity (mild symptoms to severe handicap) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity (mild symptoms to severe handicap) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6002. en:variable severity and progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity and progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6003. en:variable severity between patients and between eyes (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity between patients and between eyes (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6004. en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6005. en:variable severity of brain malformations --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity of brain malformations | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6006. en:variable severity of phenotype and other features may be present --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity of phenotype and other features may be present | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6007. en:variable severity of scaling and palmoplantar keratoderma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity of scaling and palmoplantar keratoderma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6008. en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6009. en:variable severity that correlates with rate and magnitude of neuronal protein accumulation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6010. en:variable severity, correlates with age at onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity, correlates with age at onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6011. en:variable severity, even within families --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity, even within families | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6012. en:variable severity, intrafamilial --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity, intrafamilial | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6013. en:variable severity, ranging from 'typical' to 'severe' disease --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity, ranging from 'typical' to 'severe' disease | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6014. en:variable severity, ranging from central severe to peripheral to transient --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity, ranging from central severe to peripheral to transient | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6015. en:variable severity, some patients have a protracted course with little neurologic involvement --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable severity, some patients have a protracted course with little neurologic involvement | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6016. en:variable survival --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable survival | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6017. en:variable survival (some neonatal lethality) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variable survival (some neonatal lethality) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6018. en:variably expressivity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variably expressivity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6019. en:variably severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variably severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6020. en:variant at may present with dystonia only --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variant at may present with dystonia only | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6021. en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6022. en:variation in slc24a5 has also been associated with variation in skin color (shep4) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6023. en:vasculitic symptoms are associated with cold exposure (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:vasculitic symptoms are associated with cold exposure (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6024. en:vast majority of heterozygotes are asymptomatic --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:vast majority of heterozygotes are asymptomatic | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6025. en:venous malformations previously referred to as angiomas or hemangiomas --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:venous malformations previously referred to as angiomas or hemangiomas | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6026. en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6027. en:very few patients reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:very few patients reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6028. en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6029. en:very rare --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:very rare | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6030. en:very slow progression --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:very slow progression | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6031. en:very variable phenotype, with some patients having many features and others only a few --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:very variable phenotype, with some patients having many features and others only a few | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6032. en:vhl type 1 - renal carcinoma and hemangioblastoma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:vhl type 1 - renal carcinoma and hemangioblastoma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6033. en:vhl type 2a - hemangioblastoma and pheochromocytoma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:vhl type 2a - hemangioblastoma and pheochromocytoma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6034. en:vhl type 2b - renal carcinoma and pheochromocytoma --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:vhl type 2b - renal carcinoma and pheochromocytoma | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6035. en:vhl type 2c - pheochromocytoma only --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:vhl type 2c - pheochromocytoma only | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6036. en:virtually all patients are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:virtually all patients are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6037. en:virtually all patients with this condition are female --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:virtually all patients with this condition are female | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6038. en:visceral manifestations are less apparent --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visceral manifestations are less apparent | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6039. en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6040. en:visual acuity better than anticipated from ophthalmoscopic appearance --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visual acuity better than anticipated from ophthalmoscopic appearance | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6041. en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6042. en:visual acuity varies from 20/20 to no light perception --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visual acuity varies from 20/20 to no light perception | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6043. en:visual and hearing loss are slowly progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visual and hearing loss are slowly progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6044. en:visual field and color defects invariably present only in patients with advanced loss of vision --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visual field and color defects invariably present only in patients with advanced loss of vision | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6045. en:visual impairment is present at birth and is progressive --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visual impairment is present at birth and is progressive | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6046. en:visual symptoms present by late childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:visual symptoms present by late childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6047. en:waddling gait --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:waddling gait | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6048. en:waddling gait noted at age 15-20 months --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:waddling gait noted at age 15-20 months | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6049. en:waddling gait, often presenting sign in second year --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:waddling gait, often presenting sign in second year | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6050. en:waddling gate --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:waddling gate | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6051. en:walking delay --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:walking delay | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6052. en:warm weather and alcohol are alleviating factors --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:warm weather and alcohol are alleviating factors | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6053. en:wasting of hands often occurs first --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wasting of hands often occurs first | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6054. en:wasting of the hands is the first and most prominent manifestation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wasting of the hands is the first and most prominent manifestation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6055. en:waxing and waning cardiomyopathy (in some patients) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:waxing and waning cardiomyopathy (in some patients) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6056. en:wheelchair use at 20-30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wheelchair use at 20-30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6057. en:wheelchair use by 10-30 years --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wheelchair use by 10-30 years | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6058. en:wheelchair-bound after 2 decades of disease onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wheelchair-bound after 2 decades of disease onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6059. en:wheelchair-bound average 12 years after onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wheelchair-bound average 12 years after onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6060. en:when present, onset of vestibular dysfunction in childhood --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:when present, onset of vestibular dysfunction in childhood | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6061. en:wide clinical variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide clinical variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6062. en:wide phenotypic variability --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide phenotypic variability | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6063. en:wide phenotypic variability and severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide phenotypic variability and severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6064. en:wide phenotypic variation --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide phenotypic variation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6065. en:wide range of onset from childhood to adult (10 to 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide range of onset from childhood to adult (10 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6066. en:wide range of severity between affected members of the same family --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide range of severity between affected members of the same family | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6067. en:wide spectrum of severity --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide spectrum of severity | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6068. en:wide variability in severity of limb defects --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:wide variability in severity of limb defects | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6069. en:women affected more than men (3:2) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:women affected more than men (3:2) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6070. en:women are more often affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:women are more often affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6071. en:women may be mildly affected --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:women may be mildly affected | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6072. en:worldwide frequency of 1 in 100,000 infants --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:worldwide frequency of 1 in 100,000 infants | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6073. en:worldwide frequency of 1 in 2,000,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:worldwide frequency of 1 in 2,000,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6074. en:worldwide incidence of 1 in 185,000 live births --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:worldwide incidence of 1 in 185,000 live births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6075. en:worldwide prevalence of 1/100,000 --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:worldwide prevalence of 1/100,000 | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6076. en:worsening of hand weakness with cold (in some) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:worsening of hand weakness with cold (in some) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6077. en:worsening of symptoms during sleep --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:worsening of symptoms during sleep | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6078. en:x-linked inheritance could not be ruled out --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:x-linked inheritance could not be ruled out | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6079. en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6080. en:x-linked recessive cytochrome b-negative cgd --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:x-linked recessive cytochrome b-negative cgd | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6081. en:xy karyotype --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:xy karyotype | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6082. en:young adult onset --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:young adult onset | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6083. en:young adult onset (range 13 to 50 years) --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:young adult onset (range 13 to 50 years) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6084. en:young-adult onset (18-30 years) of sensory ataxia --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:young-adult onset (18-30 years) of sensory ataxia | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6085. en:younger onset rarely reported --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:younger onset rarely reported | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6086. en:z allele most common, only in caucasians --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:z allele most common, only in caucasians | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6087. en:zinc deficiency in breastfed offspring resolves after weaning --- r_associated #0: 20 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:zinc deficiency in breastfed offspring resolves after weaning | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  6088. moniteur de glucose sanguin avec synthétiseur vocal intégré --- r_associated #0: 15 --> en:two unrelated families have been reported (last curated february 2016)
    n1=moniteur de glucose sanguin avec synthétiseur vocal intégré | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=15
  6089. algie articulaire --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=algie articulaire | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6090. atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6091. douleur articulaire --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=douleur articulaire | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6092. hétérozygotes asymptomatiques susceptibles à la toxicité du plomb --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=hétérozygotes asymptomatiques susceptibles à la toxicité du plomb | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6093. intolérance alimentaire --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=intolérance alimentaire | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6094. mort du nouveau-né --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=mort du nouveau-né | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6095. mort néonatale --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=mort néonatale | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6096. mortinatalité --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=mortinatalité | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6097. polyhydramnios --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=polyhydramnios | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6098. quadriplégie spastique, rétinite pigmentaire et retard mental --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6099. rétinite pigmentaire (classification de Fishman) --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=rétinite pigmentaire (classification de Fishman) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6100. troubles congénitaux --- r_associated #0: 10 --> en:two unrelated families have been reported (last curated february 2016)
    n1=troubles congénitaux | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=10
  6101. Lester (signe de) --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=Lester (signe de) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6102. Létal --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=Létal | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6103. Rétinite pigmentaire --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=Rétinite pigmentaire | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6104. anomalie congénitale --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=anomalie congénitale | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6105. arthralgie --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=arthralgie | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6106. disomie uniparentale --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=disomie uniparentale | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6107. douleur dans une articulation --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=douleur dans une articulation | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6108. en:congenital anomaly --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=en:congenital anomaly | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6109. large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6110. malformation congénitale --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=malformation congénitale | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6111. septicémie du nouveau-né --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=septicémie du nouveau-né | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6112. septicémie néonatale --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=septicémie néonatale | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6113. symptômes autonomes associés aux céphalées --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=symptômes autonomes associés aux céphalées | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=5
  6114. syndrome de prédisposition tumorale --- r_associated #0: 5 --> en:two unrelated families have been reported (last curated february 2016)
    n1=syndrome de prédisposition tumorale | n2=en:two unrelated families have been reported (last curated february 2016) | 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