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Polycystic Kidney, Autosomal Dominant

Go to external page http://purl.bioontology.org/ontology/MESH/D016891

Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

Type 1 ADPKD is linked to gene mutation at the PKD1 locus on the short arm of CHROMOSOME 16.

Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.

Term info

Label

Polycystic Kidney, Autosomal Dominant

Synonyms
  • ADPKD
  • Adult Polycystic Kidney Disease
  • Adult Polycystic Kidney Disease Type 1
  • Adult Polycystic Kidney Disease Type 2
  • Autosomal Dominant Polycystic Kidney
  • Autosomal-dominante polyzystische Niere (DE)
  • Kidney, Polycystic, Autosomal Dominant
  • Niere, polyzystische, autosomal-dominante (DE)
  • Polycystic Kidney Disease 2
  • Polycystic Kidney Disease, Adult
  • Polycystic Kidney Disease, Adult Type 2
  • Polycystic Kidney Disease, Adult, Type II
  • Polycystic Kidney Disease, Autosomal Dominant
  • Polycystic Kidney Disease, Type 2
  • Polycystic Kidney, Type 1 Autosomal Dominant Disease
  • Polycystic Kidney, Type 2 Autosomal Dominant Disease
  • Polyzystische Niere, autosomal-dominante (DE)
AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19920101

HN

1992

MDA

19910530

MMR

20171214

MN

C16.131.077.717.500, C16.320.184.625.500, C12.777.419.403.875.500, C13.351.968.419.403.875.500

PM

1992; see KIDNEY, POLYCYSTIC, AUTOSOMAL DOMINANT 1992-2000

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000151, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D017044

TERMUI

T050565, T050564, T050566, T834125, T050563, T834127, T811987, T834126, T404825, T404814, T811004, T404830, T404826, T407829, T404829

TH

NLM (1992), ORD (2010), OMIM (2013), NLM (1995), NLM (2001)

cui

C0887850, C0085413, C2751306

hasSTY

http://purl.bioontology.org/ontology/STY/T047, http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C536137, http://purl.bioontology.org/ontology/MESH/C548033

tui

T019, T047

Term relations