OBO ID: DOID:0111442 |
Term Name: | optic atrophy 9 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111442 ) |
OTHER optic atrophy 9 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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