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 malabsorptive diarrhea 4
Summary
- Synonym
-
- congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
- congenital malabsorptive diarrhoea 4
- congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
- enteric anendocrinosis
- Definition
- A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.
- Super Class
- autosomal recessive disease congenital diarrhea
External Links
- Disease Ontology
- DOID:0060779
- Mondo Disease Ontology
- ORDO
- OMIM
