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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital diarrhea 6
Summary
- Synonym
-
- chronic diarrhea due to guanylate cyclase 2C overactivity
- chronic diarrhoea due to guanylate cyclase 2C overactivity
- congenital diarrhoea 6
- Definition
- A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12.
- Super Class
- autosomal dominant disease congenital diarrhea
External Links
- Disease Ontology
- DOID:0060780
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22309 | UDP-glucuronosyltransferase 1A1 |
