JSON

autosomal recessive polycystic kidney disease

^ http://purl.obolibrary.org/obo/MONDO_0009889

An inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. [ Orphanet:731 ]

Term info

database cross reference
  • Orphanet:731 (OMIM:263200)
  • ICD9:753.14 (MONDO:i2s)
  • DOID:0110861 (MONDO:equivalentTo)
  • MedDRA:10036047 (Orphanet:731/e)
  • GARD:0008378 (MONDO:equivalentTo)
  • UMLS:C0085548 (Orphanet:731/e)
  • SCTID:28770003 (MONDO:equivalentTo)
  • NCIT:C84579 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
PKHD1 [ DOID:0110861 ]

abbreviation
ARPKD [ MONDO:Lexical DOID:0110861 ]

closeMatch

http://identifiers.org/meddra/10036047

definition

An inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_731, http://identifiers.org/snomedct/28770003, http://purl.obolibrary.org/obo/DOID_0110861, http://purl.obolibrary.org/obo/NCIT_C84579, http://linkedlifedata.com/resource/umls/id/C0085548

has exact synonym

ARPKD, polycystic kidney disease, autosomal recessive, autosomal recessive polycystic kidney, polycystic kidney disease, infantile type, AR-PKD

has narrow synonym

polycystic kidney and hepatic disease 1, polycystic kidney disease, infantile, type I

id

MONDO:0009889