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DO Term : bilateral optic nerve hypoplasia [DOID:0111531] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
UMLS_CUI:C0338502,
SNOMEDCT_US_2023_03_01:95499004,
ONH,
MESH:D000080344,
isolated optic nerve hypoplasia/aplasia,
165550,
NCI:C98999,
ORDO:137902,
ICD9CM:377.43,
ICD10CM:H47.03,
OMIM:165550,
GARD:8419,
familial bilateral optic nerve hypoplasia

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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