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polycystic kidney disease 1

^ http://purl.obolibrary.org/obo/MONDO_0008263

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • MESH:C536326 (https://github.com/monarch-initiative/mondo/issues/2210)
  • SCTID:253878003 (MONDO:equivalentTo)
  • UMLS:C3149841 (OMIM:173900)
  • OMIM:173900 (MONDO:equivalentTo)
  • DOID:0110858 (MONDO:equivalentTo)
abbreviation
PKD1 [ MONDO:Lexical OMIM:173900 DOID:0110858 ]

abbreviation
APKD1 [ DOID:0110858 ]

definition

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0110858, http://identifiers.org/mesh/C536326, http://linkedlifedata.com/resource/umls/id/C3149841, http://identifiers.org/snomedct/253878003, https://omim.org/entry/173900

has exact synonym

APKD1, autosomal dominant polycystic kidney disease caused by mutation in PKD1, polycystic kidney disease type 1, PKD1 autosomal dominant polycystic kidney disease, PKD1, polycystic kidney disease 1, polycystic kidney disease, adult, type I

has related synonym

polycystic kidney disease 1 with or without polycystic liver disease, polycystic kidney disease, adult, polycystic kidney disease, adult, type 1, Potter type 3 polycystic kidney disease, Potter type 3 polycystic kidney disease, formerly

id

MONDO:0008263