JSON

polycystic kidney disease 4

^ http://purl.obolibrary.org/obo/MONDO_0033004


A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. [ DOID:0080212 ]

Term info

database cross reference
  • UMLS:C0009714 (OMIM:263200)
  • Orphanet:731 (OMIM:263200)
  • OMIM:263200 (MONDO:equivalentTo)
  • DOID:0080212 (MONDO:equivalentTo)
  • UMLS:C0085548 (OMIM:263200)
abbreviation
PKD4 [ OMIM:263200 ]

IAO 0000233

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

definition

A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.

exactMatch

https://omim.org/entry/263200, http://purl.obolibrary.org/obo/DOID_0080212

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0004691

has exact synonym

polycystic kidney disease 4, with or without hepatic disease, polycystic kidney disease 4

has related synonym

polycystic kidney disease, autosomal recessive, polycystic kidney disease, infantile, type 1, polycystic kidney disease 4 with or without hepatic disease, polycystic kidney disease 4 with or without polycystic liver disease, polycystic kidney and hepatic disease 1, PKD3, formerly, PKD4, hepatic fibrosis, congenital, PKD3

id

MONDO:0033004