Disease association ontology term - MONDO:0014375 - congenital diarrhea 7 with exudative enteropathy
Term summary
- ID
- MONDO:0014375
- Name
- congenital diarrhea 7 with exudative enteropathy
- Ontology or CV name
- Disease association
- Definition
- 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.
