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
• OMIM:243150
• ORDO:2300
• SNOMEDCT_US_2023_03_01:95472001
• UMLS_CUI:C0220744

Ontology

Human Disease   ( DOID:14671 )