autosomal dominant vitreoretinochoroidopathy

Summary

DOID:0111569 - autosomal dominant vitreoretinochoroidopathy

Disease Ontology Definition:A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3.

Synonyms: ADVIRC, vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos, vitreoretinochoroidopathy dominant, vitreoretinochoroidopathy with microcornea, glaucoma, and cataract, VRCP autosomal dominant

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: best1

MIM:

MIM:193220 - VITREORETINOCHOROIDOPATHY; VRCP

MIM:193220 - VITREORETINOCHOROIDOPATHY; VRCP

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hereditary retinal dystrophy (is_a)