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optic atrophy 9
Summary
- Synonym
-
- OPA9
- Definition
- An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2.
- Super Class
- autosomal recessive disease optic atrophy
External Links
- Disease Ontology
- DOID:0111442
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99798 | Aconitate hydratase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000642 | Red-green dyschromatopsia |
| HP:0011463 | Childhood onset |
| HP:0000505 | Visual impairment |
| HP:0003621 | Juvenile onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000648 | Optic atrophy |
| HP:0007663 | Reduced visual acuity |
| HP:0000543 | Optic disc pallor |
