Summary Literature (0)

DOID:0050662 - bestrophinopathy

Disease Ontology Definition: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.

Synonyms: autosomal recessive bestrophinopathy

Xenbase Genes : best1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012733 - autosomal recessive bestrophinopathy

MIM:

MIM:611809 - BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee