Term Name: autosomal dominant vitreoretinochoroidopathy
Synonyms: ADVIRC, vitreoretinochoroidopathy dominant, vitreoretinochoroidopathy with microcornea, glaucoma, and cataract, vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos, VRCP autosomal dominant
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.
Ontology: Human Disease [DOID:0111569]   ( DOID:0111569 )

Relationships
is a type of: autosomal dominant disease hereditary retinal dystrophy