OBO ID: DOID:0111531
Term Name: bilateral optic nerve hypoplasia Search Ontology:
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 )
Relationships
is a type of:
OTHER bilateral optic nerve hypoplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAX6 Optic nerve hypoplasia 165550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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