Metadata | |
---|---|
ID | DOID:0111435 |
Name | optic atrophy 6 |
Definition | An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. https://www.ncbi.nlm.nih.gov/pubmed/14508503 |
Xrefs | |
Synonyms |
OPA6 [EXACT] |
Parent Relationships |
is_a optic atrophy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |