|OBO ID: DOID:0111442|
|Term Name:||optic atrophy 9||Search Ontology:|
|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 ACO2 on chromosome 22q13.2. https://www.ncbi.nlm.nih.gov/pubmed/25351951|
|Ontology:||Human Disease (DOID:0111442)|
|is a type of:||
OTHER optic atrophy 9 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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