| Metadata | |
|---|---|
| ID | DOID:0111441 |
| Name | optic atrophy 1 |
| Definition | An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. https://www.ncbi.nlm.nih.gov/pubmed/11017080, https://www.ncbi.nlm.nih.gov/pubmed/9514489, https://www.ncbi.nlm.nih.gov/pubmed/11017079 |
| Xrefs | |
| Synonyms |
OPA1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a optic atrophy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |