Term Name: | optic atrophy 3 |
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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 |
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. |
Ontology: | Human Disease [DOID:0111433] ( DOID:0111433 ) |