DISO2_YXZ (520,470) Find_IDs Annotation
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created at 2017-12-21 11:07:44 UTC
updated at 2017-12-22 12:31:05 UTC
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Label
Id
Renal ectopia (rare) DISO:OMIM
MRT9 DISO:OMIM
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 DISO:OMIM
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 DISO:MTH
MRT26 DISO:OMIM
Mental Retardation, Autosomal Recessive 9 DISO:MSH
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26 DISO:OMIM
Deafness, profound, by 6th decade DISO:OMIM
Average onset 6-10 months (range 3-24) DISO:OMIM
Absent platelet aggregation response to epinephrine DISO:OMIM
Distal upper limb involvement may occur later DISO:OMIM
Thrombocytopenia (birth) DISO:OMIM
Histopathology shows rosettes of immature retinal cells in vascular connective tissue DISO:OMIM
Onset of hearing loss prior to or during adolescence DISO:OMIM
Spermatozoa Abnormal Head | Semen DISO:LNC