congenital diarrhea 7 with exudative enteropathy

Term ID

DOID:0060778

Synonyms

• congenital chronic diarrhea with exudative enteropathy
• congenital chronic diarrhea with protein-losing enteropathy
• congenital chronic diarrhoea with exudative enteropathy
• congenital chronic diarrhoea with protein-losing enteropathy
• congenital diarrhoea 7 with exudative enteropathy

Definition

A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. https://www.ncbi.nlm.nih.gov/pubmed/23114594

References

• ICD10CM:P78.3
• MIM:615863
• ORDO:329242

Ontology

Human Disease   ( DOID:0060778 )