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congenital enteropathy due to enteropeptidase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
Uniprot Description Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive.
Mondo Term and Equivalent IDs
MONDO:0009173:  congenital enteropathy due to enteropeptidase deficiency
DOID:0111667: 
MESH:C562649: 
Orphanet:168601: 
SCTID:190952002: 
UMLS:C0268416: