Search Ontology:
Human Disease

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
  • MIM:165550
  • NCI:C98999
  • ORDO:137902
  • SNOMEDCT_US_2023_03_01:95499004
  • UMLS_CUI:C0338502
Ontology
Human Disease   ( DOID:0111531 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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