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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:0100543 | Cognitive impairment |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000486 | Strabismus |
| HP:0000552 | Tritanomaly |
| HP:0000576 | Centrocecal scotoma |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0000642 | Red-green dyschromatopsia |
| HP:0000650 | Abnormal amplitude of pattern reversal visual evoked potentials |
| HP:0000666 | Horizontal nystagmus |
| HP:0000980 | Pallor |
