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Browse result for Gastrointestinal defects and immunodeficiency syndrome

※ introduction

    Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency.

Reference
OMIM: Gastrointestinal defects and immunodeficiency syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD14421Q9ULT057217
TTC7A
Tetratricopeptide repeat protein 7A
Homo sapiens