JSON

congenital diarrhea 6

^ http://purl.obolibrary.org/obo/MONDO_0013825

Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0060780 (MONDO:equivalentTo)
  • Orphanet:314373 (OMIM:614616)
  • OMIM:614616 (Orphanet:314373/e)
  • UMLS:C3553270 (OMIM:614616)
Subsets

ordo_disease

abbreviation
DIAR6 [ MONDO:Lexical OMIM:614616 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.

exactMatch

https://omim.org/entry/614616, http://linkedlifedata.com/resource/umls/id/C3553270, http://purl.obolibrary.org/obo/Orphanet_314373, http://purl.obolibrary.org/obo/DOID_0060780

has exact synonym

congenital diarrhea type 6, GUCY2C congenital diarrhea, congenital diarrhea caused by mutation in GUCY2C, diarrhea type 6, chronic diarrhea due to guanylate cyclase 2C overactivity

has related synonym

DIAR6, diarrhea 6

id

MONDO:0013825