Search Ontology:
Human Disease

optic atrophy 7

Term ID
DOID:0111437
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 the TMEM126A gene on chromosome 11q14.1. https://www.ncbi.nlm.nih.gov/pubmed/19327736
References
Ontology
Human Disease   ( DOID:0111437 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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