Disease association ontology term - MONDO:0060582 - auditory neuropathy-optic atrophy syndrome
Term summary
- ID
- MONDO:0060582
- Name
- auditory neuropathy-optic atrophy syndrome
- Ontology or CV name
- Disease association
- Definition
- A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by onset of visual and hearing impairment in the first or second decades.
