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Stickler syndrome, type I, nonsyndromic ocular

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild.
Mondo Term and Equivalent IDs
MONDO:0012287:  Stickler syndrome, type I, nonsyndromic ocular
UMLS:C1836080: