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autosomal dominant vitreoretinochoroidopathy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
Uniprot Description A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.
Mondo Term and Equivalent IDs
MONDO:0008662:  autosomal dominant vitreoretinochoroidopathy
DOID:0111569: 
GARD:0005507: 
MESH:C536352: 
Orphanet:3086: 
SCTID:711162004: 
UMLS:C3888099: