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
Orphanet:329242: 
UMLS:C4014516: