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autosomal recessive bestrophinopathy

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
Uniprot Description A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.
Disease Ontology Description A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.
Mondo Term and Equivalent IDs
MONDO:0012733:  autosomal recessive bestrophinopathy
MESH:C567518: 
Orphanet:139455: 
SCTID:723828008: 
UMLS:C2678493: 
UMLS:C3888198: