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aniridia 1

Disease Summary
Associated Targets (5)
Tbio

5


Uniprot Description A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
Mondo Term and Equivalent IDs
MONDO:0024507:  aniridia 1
OMIM:106210: ANIRIDIA 1
SCTID:253231007: