bilateral optic nerve hypoplasia Disease Ontology Browser

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Disease Ontology Browser

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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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