Term Name: | congenital secretory sodium diarrhea 3 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0060781] ( DOID:0060781 ) |