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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111667
MESH:C562649
OMIM:226200
Orphanet:168601
SCTID:190952002
UMLS:C0268416
MONDO:0009173
High level summary of knowledge for a disease, including descriptions and datasource references.