OBO ID: DOID:0111437
Term Name: optic atrophy 7 Search Ontology:
Synonyms:
  • OPA7
  • optic atrophy 7 with or without auditory neuropathy
Definition: An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126A on chromosome 11q14.1. https://www.ncbi.nlm.nih.gov/pubmed/19327736
References:
Ontology: Human Disease   (DOID:0111437)
OTHER optic atrophy 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM126A Optic atrophy 7 612989
TMEM126B Optic atrophy 7 612989
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None