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congenital secretory sodium diarrhea 3
Summary
- Synonym
-
- congenital secretory sodium diarrhea 3 syndromic
- congenital secretory sodium diarrhea 3 with or without other congenital anomalies
- congenital secretory sodium diarrhoea 3
- congenital secretory sodium diarrhoea 3 syndromic
- congenital secretory sodium diarrhoea 3 with or without other congenital anomalies
- Definition
- A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.
- Super Class
- autosomal recessive disease physical disorder secretory diarrhea
External Links
- Disease Ontology
- DOID:0060781
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P27797 | Calreticulin | |
| P35354 | Prostaglandin G/H synthase 2 |
