| Metadata | |
|---|---|
| ID | DOID:0080840 |
| Name | optic atrophy 12 |
| Definition | An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. https://pubmed.ncbi.nlm.nih.gov/32219868/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a optic atrophy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |