| Metadata | |
|---|---|
| ID | DOID:0060296 |
| Name | congenital secretory chloride diarrhea 1 |
| Definition | A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31. https://pubmed.ncbi.nlm.nih.gov/19861545/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:24412005 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital chloride diarrhea finnish type [EXACT] congenital chloride diarrhoea finnish type [EXACT] congenital chloridorrhea [EXACT] congenital secretory chloride diarrhoea 1 [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 |