Search Ontology:
Human Disease

optic atrophy 9

Term ID
DOID:0111442
Synonyms
  • 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 )
Relationships
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Genes Involved
Zebrafish Models