bilateral optic nerve hypoplasia

Term ID

DOID:0111531

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. https://www.ncbi.nlm.nih.gov/pubmed/12721955

References

• GARD:8419
• ICD10CM:H47.03
• ICD9CM:377.43
• MESH:D000080344
• NCI:C98999
• OMIM:165550
• ORDO:137902
• SNOMEDCT_US_2023_03_01:95499004
• UMLS_CUI:C0338502

Ontology

Human Disease   ( DOID:0111531 )