ZFIN Human Disease: autosomal dominant vitreoretinochoroidopathy

OBO ID: DOID:0111569

Term Name:	autosomal dominant vitreoretinochoroidopathy		Search Ontology:
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. (2)
References:	GARD:5507 MESH:C536352 OMIM:193220 ORDO:3086 SNOMEDCT_US_2023_03_01:711162004 UMLS_CUI:C3888099
Ontology:	Human Disease ( DOID:0111569 )

Relationships

is a type of:	autosomal dominant disease hereditary retinal dystrophy autosomal dominant disease hereditary retinal dystrophy Show first 5 Terms

OTHER autosomal dominant vitreoretinochoroidopathy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BEST1	best1	Vitreoretinochoroidopathy	193220
		?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	193220

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None