| Metadata | |
|---|---|
| ID | DOID:0111438 |
| Name | optic atrophy 5 |
| Definition | An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. https://www.ncbi.nlm.nih.gov/pubmed/28969390 |
| Xrefs | |
| Synonyms |
OPA5 [EXACT] |
| Parent Relationships |
is_a optic atrophy |