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 BEST1 on chromosome 11q12.3.
Synonyms: autosomal dominant vitreoretinochoroidopathy, autosomal dominant vitreoretinochoroidopathies, DOID:0111569, ADVIRC, vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos ...