Search Ontology:
Human Disease

multiple intestinal atresia

Term ID
DOID:14671
Synonyms
  • familial intestinal polyatresia syndrome
  • gastrointestinal defects and immunodeficiency syndrome
  • GIDID
  • Multiple gastrointestinal atresias
Definition
An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/23423984
References
  • GARD:3013
  • MEDDRA:10028210
  • MESH:C562441
  • MIM:243150
  • ORDO:2300
  • SNOMEDCT_US_2023_03_01:95472001
  • UMLS_CUI:C0220744
Ontology
Human Disease   ( DOID:14671 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models