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Metadata
ID DOID:0111569
Name autosomal dominant vitreoretinochoroidopathy
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 BEST1 on chromosome 11q12.3.
https://www.ncbi.nlm.nih.gov/pubmed/15452077, https://www.ncbi.nlm.nih.gov/pubmed/7065944
Xrefs

GARD:5507

MESH:C536352

OMIM:193220

ORDO:3086

SNOMEDCT_US_2019_09_01:711162004

UMLS_CUI:C3888099

Synonyms

ADVIRC [EXACT]

vitreoretinochoroidopathy dominant [EXACT]

vitreoretinochoroidopathy with microcornea, glaucoma, and cataract [EXACT]

vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos [EXACT]

VRCP autosomal dominant [EXACT]

Parent Relationships

is_a hereditary retinal dystrophy

is_a autosomal dominant disease

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