JSON

intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

^ http://purl.obolibrary.org/obo/MONDO_0013843

Any meconium ileus 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
  • OMIM:614665 (Orphanet:314376/e)
  • Orphanet:314376 (OMIM:614665)
  • ICD9:777.1 (MONDO:i2s)
  • SCTID:733447005 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.

exactMatch

http://identifiers.org/snomedct/733447005, https://omim.org/entry/614665, http://purl.obolibrary.org/obo/Orphanet_314376

has broad synonym

meconium ileus

has exact synonym

GUCY2C meconium ileus, meconium ileus caused by mutation in GUCY2C, meconium ileus due to guanylate cyclase 2C deficiency

id

MONDO:0013843