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congenital secretory chloride diarrhea 1

^ http://purl.obolibrary.org/obo/MONDO_0008964

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0060296 (MONDO:equivalentTo)
  • SCTID:24412005 (MONDO:equivalentTo)
  • ICD9:579.8 (MONDO:relatedTo)
  • MESH:C536210 (Orphanet:53689/e)
  • GARD:0010001 (MONDO:equivalentTo)
  • Orphanet:53689 (OMIM:214700)
  • OMIM:214700 (Orphanet:53689/e)
Subsets

ordo_disease

abbreviation
DIAR1 [ OMIM:214700 MONDO:Lexical ]

abbreviation
CLD [ GARD:0010001 ]

definition

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_53689, http://identifiers.org/snomedct/24412005, http://identifiers.org/mesh/C536210, https://omim.org/entry/214700, http://purl.obolibrary.org/obo/DOID_0060296

has exact synonym

congenital secretory chloride diarrhea type 1, congenital chloridorrhea, congenital chloride diarrhea Finnish type, secretory diarrhea caused by mutation in SLC26A3, SLC26A3 secretory diarrhea

has related synonym

chloride diarrhea, congenital, Finnish type, familial chloride diarrhea, congenital chloride diarrhea, CLD, diarrhea 1, secretory chloride, congenital, DIAR1, Chloridorrhea, congenital, Darrow-gamble disease

id

MONDO:0008964