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congenital diarrhea 5 with tufting enteropathy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.
Uniprot Description An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.
Mondo Term and Equivalent IDs
MONDO:0013184:  congenital diarrhea 5 with tufting enteropathy
GARD:0010630: 
MESH:C567703: 
Orphanet:92050: 
SCTID:715669000: 
UMLS:C2750737: 
UMLS:C4275062: