Term Name: | bilateral optic nerve hypoplasia |
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Synonyms: | familial bilateral optic nerve hypoplasia, isolated optic nerve hypoplasia/aplasia, ONH |
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. |
Ontology: | Human Disease [DOID:0111531] ( DOID:0111531 ) |