| Metadata | |
|---|---|
| ID | DOID:0111531 |
| Name | bilateral optic nerve hypoplasia |
| Definition | An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. https://www.ncbi.nlm.nih.gov/pubmed/12721955 |
| Xrefs |
SNOMEDCT_US_2023_03_01:95499004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial bilateral optic nerve hypoplasia [EXACT] isolated optic nerve hypoplasia/aplasia [EXACT] ONH [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a optic nerve disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |