RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
ADVIRC; VRCP; VRCP autosomal dominant; Vitreoretinochoroidopathy; Vitreoretinochoroidopathy dominant; Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
narrow_synonym:
MRCS2; microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
broad_synonym:
MRCS; microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
ClinVar Annotator: match by OMIM:193220 ClinVar Annotator: match by synonym: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma ClinVar Annotator: match by term: Vitreoretinochoroidopathy