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choroidal dystrophy, central areolar 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
Uniprot Description A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.
Mondo Term and Equivalent IDs
MONDO:0013137:  choroidal dystrophy, central areolar 2
MESH:C567750: 
UMLS:C2751290: