congenital diarrhea 6

Term ID

DOID:0060780

Synonyms

• chronic diarrhea due to guanylate cyclase 2C overactivity
• chronic diarrhoea due to guanylate cyclase 2C overactivity
• congenital diarrhoea 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

References

• ICD10CM:P78.3
• OMIM:614616
• ORDO:314373

Ontology

Human Disease   ( DOID:0060780 )