Search Ontology:
Human Disease
optic atrophy 9
- Term ID
- DOID:0111442
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/25351951
- References
- Ontology
- Human Disease ( DOID:0111442 )
- is a type of
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Genes Involved
Zebrafish Models