Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0003077 | Hyperlipidemia |
