Metadata | |
---|---|
ID | DOID:0111440 |
Name | optic atrophy 4 |
Definition | An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. https://www.ncbi.nlm.nih.gov/pubmed/10369594 |
Xrefs | |
Synonyms |
OPA4 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a optic atrophy |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |