| Metadata | |
|---|---|
| ID | DOID:0111433 |
| Name | optic atrophy 3 |
| Definition | An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. https://www.ncbi.nlm.nih.gov/pubmed/15342707 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719517009 |
| Subsets |
DO_rare_slim |
| Synonyms |
ADOAC [EXACT] autosomal dominant optic atrophy 3 [EXACT] autosomal dominant optic atrophy and cataract [EXACT] autosomal dominant optic atrophy type 3 [EXACT] OPA3 [EXACT] optic atrophy 3 with cataract [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a optic atrophy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |