OBO ID: DOID:0111442
Term Name: optic atrophy 9 Search Ontology:
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 ACO2 on chromosome 22q13.2. https://www.ncbi.nlm.nih.gov/pubmed/25351951
References:
Ontology: Human Disease   (DOID:0111442)
OTHER optic atrophy 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACO2 Optic atrophy 9 616289
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None