has material basis in germline mutation in TTC7A syndromic disease gastrointestinal defect and immunodeficiency syndrome gastrointestinal defects and immunodeficiency syndrome 1 https://github.com/monarch-initiative/mondo/issues/4167 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/8164 https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple MONDO:0800030 FIPA A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. MEDGEN:1872649 UMLS:C5968858 MINAT DOID:14671 multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency intestinal atresia, multiple familial intestinal polyatresia syndrome GARD:0017731 OMIM:243150