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DOID:0111437 - optic atrophy 7
Disease Ontology Definition:An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
Synonyms: OPA7, optic atrophy 7 with or without auditory neuropathy,
Echinobase Genes :
MIM:612989 - optic atrophy 7; opa7 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee