Human genes for autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy [DOID:0111569]
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: autosomal dominant vitreoretinochoroidopathy, DOID:0111569, autosomal dominant vitreoretinochoroidopathies, ADVIRC, VRCP autosomal dominant ...