Term Name: bilateral optic nerve hypoplasia
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 )

Relationships
is a type of: autosomal dominant disease optic nerve disease