Metadata | |
---|---|
ID | DOID:0111439 |
Name | optic atrophy 8 |
Definition | An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. https://www.ncbi.nlm.nih.gov/pubmed/21349918 |
Xrefs | |
Synonyms |
OPA8 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a optic atrophy |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |