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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/25545482 url:https://www.omim.org/entry/611809 http://purl.obolibrary.org/obo/ECO_0007636 url:https://www.ncbi.nlm.nih.gov/pubmed/24859690 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: autosomal recessive bestrophinopathy

This is just here as a test because I lose it

Term information

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OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050662

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