bilateral optic nerve hypoplasia (DOID:0111531)
Alliance: disease page
Synonyms: familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia; ONH
Alt IDs: OMIM:165550, ICD10CM:H47.03, ICD9CM:377.43, MESH:D000080344, NCI:C98999, ORDO:137902, UMLS_CUI:C0338502
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.