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Entry Name Description Category Pathway Gene
H02331 Gastrointestinal defects and immunodeficiency syndrome
Combined immunodeficiency with multiple intestinal atresia
... and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects cause this disease. Congenital malformation (GIDID1) TTC7A [HSA:57217] [KO:K21843]
(GIDID2) PI4KA [HSA:5297] [KO:K00888]
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