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congenital diarrhea 7 with exudative enteropathy
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease congenital diarrhea
External Links
- Disease Ontology
- DOID:0060778
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002014 | Diarrhea |
| HP:0003124 | Hypercholesterolemia |
| HP:0001508 | Failure to thrive |
| HP:0011473 | Villous atrophy |
| HP:0003073 | Hypoalbuminemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003623 | Neonatal onset |
| HP:0002243 | Protein-losing enteropathy |
| HP:0011848 | Abdominal colic |
| HP:0002013 | Vomiting |
