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Autosomal dominant polycystic kidney disease

^ http://www.ebi.ac.uk/efo/EFO_1001496


A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. [ NCIT:P378 ]

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys. [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: Polycystic kidneys - adult type, Autosomal dominant adult polycystic kidney disease, ADPKD, adult type autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease, Polycystic kidney disease, adult type (disorder), polycystic kidney disease, autosomal dominant, ADPKD - Autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type, polycystic kidney, autosomal dominant, autosomal dominant polycystic kidney disease

Term info

database cross reference
  • MONDO:0004691
  • NCIT:C84578 (MONDO:kboom-pr-1.00/0.93/31.20)
  • MedDRA:10036046 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • NCIt:C84578 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • SCTID:765330003 (MONDO:equivalentTo)
  • DOID:898 (MONDO:equivalentTo)
  • SNOMEDCT:28728008 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • ICD9:753.13 (i2s)
  • Orphanet:730 (MONDO:equivalentTo)
  • GARD:0010413 (MONDO:equivalentTo)
  • ICD9:753.12 (DOID:898)
  • OMIM:600666 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • UMLS:CN119611 (MONDO:equivalentTo)
  • MSH:D016891 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • ICD10:Q61.3 (DOID:898)
  • OMIM:618061
closeMatch

http://linkedlifedata.com/resource/umls/id/C0022680, http://identifiers.org/snomedct/204955006, http://identifiers.org/snomedct/204954005, http://identifiers.org/snomedct/204956007, http://identifiers.org/snomedct/268233005, http://identifiers.org/snomedct/156973002, http://linkedlifedata.com/resource/umls/id/C0085413, http://identifiers.org/snomedct/268332003, http://identifiers.org/mesh/D007690

exactMatch

http://purl.obolibrary.org/obo/Orphanet_730, http://identifiers.org/snomedct/765330003, http://linkedlifedata.com/resource/umls/id/CN119611, http://purl.obolibrary.org/obo/NCIT_C84578, http://purl.obolibrary.org/obo/DOID_898

has related synonym

polycystic kidney and hepatic disease 1, congenital biliary ectasias

id

EFO:1001496

term editor

Sirarat Sarntivijai