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polycystic kidney disease 1

Go to external page 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C536326 (https://github.com/monarch-initiative/mondo/issues/2210)
  • SCTID:253878003 (MONDO:equivalentTo)
  • OMIM:173900 (MONDO:equivalentTo)
  • DOID:0110858 (MONDO:equivalentTo)
  • UMLS:C3149841 (OMIM:173900)
abbreviation
APKD1 [ DOID : 0110858 ]
abbreviation
PKD1 [ DOID : 0110858 MONDO : Lexical https://omim.org/entry/173900 ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.
exactMatch
  • http://identifiers.org/mesh/C536326
  • http://linkedlifedata.com/resource/umls/id/C3149841
  • http://purl.obolibrary.org/obo/DOID_0110858
  • http://identifiers.org/snomedct/253878003
  • https://omim.org/entry/173900
has exact synonym
  • PKD1
  • polycystic kidney disease 1
  • PKD1 autosomal dominant polycystic kidney disease
  • polycystic kidney disease type 1
  • autosomal dominant polycystic kidney disease caused by mutation in PKD1
  • APKD1
  • polycystic kidney disease, adult, type I
has related synonym
  • Potter type 3 polycystic kidney disease
  • polycystic kidney disease, adult, type 1
  • polycystic kidney disease, adult
  • polycystic kidney disease 1 with or without polycystic liver disease
  • Potter type 3 polycystic kidney disease, formerly
id
  • MONDO:0008263