DISO_CY (520,470) Find_IDs 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
Label
Id
Short phalanges (middle phalanges) DISO:Finding
Renal ectopia (rare) DISO:Finding
MRT9 DISO:Disease or Syndrome
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 DISO:Disease or Syndrome
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 DISO:Disease or Syndrome
MRT26 DISO:Disease or Syndrome
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26 DISO:Disease or Syndrome
Deafness, profound, by 6th decade DISO:Finding
Average onset 6-10 months (range 3-24) DISO:Finding
Absent platelet aggregation response to epinephrine DISO:Finding
Distal upper limb involvement may occur later DISO:Finding
Thrombocytopenia (birth) DISO:Finding
Histopathology shows rosettes of immature retinal cells in vascular connective tissue DISO:Finding
Onset of hearing loss prior to or during adolescence DISO:Finding
Spermatozoa Abnormal Head | Semen DISO:Finding