| Metadata | |
|---|---|
| ID | DOID:0111434 |
| Name | optic atrophy 10 |
| 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 |
| Xrefs | |
| Synonyms |
OPA10 [EXACT] optic atrophy 10 with or without ataxia, mental retardation, and seizures [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a optic atrophy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |