Metadata | |
---|---|
ID | DOID:0060780 |
Name | congenital diarrhea 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. https://www.ncbi.nlm.nih.gov/pubmed/22436048 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
chronic diarrhea due to guanylate cyclase 2C overactivity [EXACT] chronic diarrhoea due to guanylate cyclase 2C overactivity [EXACT] congenital diarrhoea 6 [EXACT] |
Parent Relationships |
is_a congenital diarrhea |