DISO_CY Find_IDs Find_Terms Annotation
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created at 2017-12-28 15:45:48 UTC
updated at 2017-12-28 18:31:12 UTC
Sub-category as a label
520,470 entries
Label
Id
HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE DISO:Disease or Syndrome
TYROSINE KINASE 2 DEFICIENCY DISO:Disease or Syndrome
HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE DISO:Disease or Syndrome
TYK2 DEFICIENCY DISO:Disease or Syndrome
IMMUNODEFICIENCY 35 DISO:Disease or Syndrome
Poor pupillary reflexes DISO:Finding
Small head circumference (lower end of normal) DISO:Finding
AUTISM, SUSCEPTIBILITY TO, 11 DISO:Finding
AUTS11 DISO:Finding
Small joint laxity (especially hands and elbows) DISO:Finding
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility DISO:Disease or Syndrome
HAMAMY SYNDROME DISO:Disease or Syndrome
HMMS DISO:Disease or Syndrome
HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY DISO:Disease or Syndrome
HAMAMY SYNDROME DISO:Disease or Syndrome