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Summary Literature (0)
DOID:0111531 - bilateral optic nerve hypoplasia

Disease Ontology 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.

Synonyms: ONH, familial bilateral optic nerve hypoplasia, isolated optic nerve hypoplasia/aplasia,

Xenbase Genes : pax6

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), optic nerve disease (is_a)