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bilateral optic nerve hypoplasia
Summary
- Synonym
-
- ONH
- familial bilateral optic nerve hypoplasia
- isolated optic nerve hypoplasia/aplasia
- 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.
- Super Class
- autosomal dominant disease optic nerve disease
External Links
- Disease Ontology
- DOID:0111531
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
