Search Ontology:
Human Disease
optic atrophy 10
- Term ID
- DOID:0111434
- Synonyms
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- OPA10
- optic atrophy 10 with or without ataxia, mental retardation, and seizures
- Definition
- An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/26593267
- References
- Ontology
- Human Disease ( DOID:0111434 )
- is a type of
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