multiple intestinal atresia (DOID:14671)
Alliance: disease page
Synonyms: familial intestinal polyatresia syndrome; gastrointestinal defects and immunodeficiency syndrome; GIDID; Multiple gastrointestinal atresias
Alt IDs: OMIM:243150, MESH:C562441, ORDO:2300, UMLS_CUI:C0220744
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.