OBO ID: DOID:898
Term Name: autosomal dominant polycystic kidney disease Search Ontology:
Synonyms:
  • Congenital biliary ectasias
  • POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Definition: An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. (2)
References:
  • ICD10CM:Q61.3
  • ICD9CM:753.12
  • MESH:D007690
  • NCI:C75464
  • OMIM:PS173900
  • ORDO:730
  • SNOMEDCT_US_2018_03_01:156973002
  • SNOMEDCT_US_2018_03_01:204954005
  • SNOMEDCT_US_2018_03_01:204955006
  • SNOMEDCT_US_2018_03_01:204956007
  • SNOMEDCT_US_2018_03_01:268233005
  • SNOMEDCT_US_2018_03_01:268332003
  • SNOMEDCT_US_2018_03_01:82525005
  • UMLS_CUI:C0022680
Ontology: Human Disease   (DOID:898)
Relationships
is a type of:
has subtype:
OTHER autosomal dominant polycystic kidney disease PAGES
GENES INVOLVEDNo data available
PHENOTYPE No data available

CITATIONS (10)