optic atrophy 3

Summary

DOID:0111433 - optic atrophy 3

Disease Ontology Definition:An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32.

Synonyms: ADOAC, autosomal dominant optic atrophy 3, autosomal dominant optic atrophy and cataract, autosomal dominant optic atrophy type 3, OPA3, optic atrophy 3 with cataract

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

: opa3

MIM:

MIM:165300 - OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3

MIM:165300 - OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3

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

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

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