RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. (DO)
Synonyms:
exact_synonym:
ADOAC; OPA3; OPA3, autosomal dominant; autosomal dominant optic atrophy type 3; optic atrophy 3 with cataract; optic atrophy 3, autosomal dominant; optic atrophy and cataract, autosomal dominant; optic atrophy, cataract, and neurologic disorder
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy 3 with cataract | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder