optic atrophy 3 (DOID:0111433)
Alliance: disease page
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
Alt IDs: OMIM:165300, MESH:C537128, ORDO:67036, UMLS_CUI:C1833809
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.