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optic atrophy 3
Summary
- Synonym
-
- ADOAC
- OPA3
- autosomal dominant optic atrophy 3
- autosomal dominant optic atrophy and cataract
- autosomal dominant optic atrophy type 3
- 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.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0111433
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6K4 | Optic atrophy 3 protein |
