Search Ontology:
Human Disease

anterior segment dysgenesis 2

Term ID
DOID:0080607
Synonyms
  • ASGD2
  • congenital absence of lens
  • congenital aphakia
  • congenital primary aphakia
  • CPAK
Definition
An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. https://www.ncbi.nlm.nih.gov/pubmed/21150893
References
  • ICD10CM:Q12.3
  • MIM:610256
  • NCI:C222344
  • UMLS_CUI:C0152422
Ontology
Human Disease   ( DOID:0080607 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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