bilateral optic nerve hypoplasia

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: 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)