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optic atrophy 1
Summary
- Synonym
-
- OPA1
- Definition
- An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0111441
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003587 | Insidious onset |
| HP:0003701 | Proximal muscle weakness |
| HP:0003829 | Typified by incomplete penetrance |
| HP:0007663 | Reduced visual acuity |
