congenital diarrhea 7 with exudative enteropathy
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.
MONDO:0000824
congenital diarrhea
is_a
MONDO:0005020
intestinal disorder
is_a
DGAT1 congenital diarrhea
exact
DGAT1 congenital diarrhoea
exact
DIAR7
related
congenital chronic diarrhea with exudative enteropathy
exact
congenital chronic diarrhea with protein-losing enteropathy
exact
congenital diarrhea caused by mutation in DGAT1
exact
congenital diarrhoea caused by mutation in DGAT1
exact
diarrhea 7
related
diarrhea 7, protein-losing enteropathy type
exact
diarrhea type 7
exact
diarrhoea 7
related
diarrhoea 7, protein-losing enteropathy type
exact
diarrhoea type 7
exact
SPAC13G7.05 SPCP1E11.05c