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posterior polymorphous corneal dystrophy 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
Uniprot Description A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.
Mondo Term and Equivalent IDs
MONDO:0007378:  posterior polymorphous corneal dystrophy 1
SCTID:29504002: 
UMLS:CN029625: