You are using an outdated browser. Please upgrade your browser to improve your experience.
congenital diarrhea 7 with exudative enteropathy
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
Uniprot Description A life-threatening disease characterized by severe, intractable, watery diarrhea.
Mondo Term and Equivalent IDs
MONDO:0014375: congenital diarrhea 7 with exudative enteropathy
Download Data for congenital diarrhea 7 with exudative enteropathy
data still loading...
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:0060778
OMIM:615863
Orphanet:329242
UMLS:C4014516
MONDO:0014375
High level summary of knowledge for a disease, including descriptions and datasource references.