optic atrophy 7

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tmem126a

MIM:

MIM:612989 - OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7

MIM:612989 - OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7

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

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

Parent(s): autosomal recessive disease (is_a), optic atrophy (is_a)