| Metadata | |
|---|---|
| ID | DOID:0060781 |
| Name | congenital secretory sodium diarrhea 3 |
| Definition | A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19185281 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital secretory sodium diarrhea 3 syndromic [EXACT] congenital secretory sodium diarrhea 3 with or without other congenital anomalies [EXACT] congenital secretory sodium diarrhoea 3 [EXACT] congenital secretory sodium diarrhoea 3 syndromic [EXACT] congenital secretory sodium diarrhoea 3 with or without other congenital anomalies [EXACT] |
| Parent Relationships |
is_a secretory diarrhea is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some diarrhea disease has basis in some Abnormality of prenatal development or birth |