Term Name: | multiple intestinal atresia |
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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. |
Ontology: | Human Disease [DOID:14671] ( DOID:14671 ) |