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Dent Disease

Go to external page http://purl.bioontology.org/ontology/MESH/D057973

X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.

Instance info

Synonyms

Dent's Disease, Disease, Dent, Dents Disease, Dent-Syndrom (DE), Dent-Krankheit (DE), Disease, Dent's, Disease, Dents

AQL

BL CF CI CL 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

20110101

FX

D005198,D009800,D001477,D053579

HN

2011

MDA

20100625

MMR

20130708

MN

C16.320.565.861.271,C12.777.419.815.364,C13.351.968.419.815.364,C16.320.322.100,C18.452.648.861.271

PM

2011

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/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/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,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

RO

http://purl.bioontology.org/ontology/MESH/D001477,http://purl.bioontology.org/ontology/MESH/D053579,http://purl.bioontology.org/ontology/MESH/D005198,http://purl.bioontology.org/ontology/MESH/D009800

SIB

http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D005198,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D013734,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D000795,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D053307,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D006015,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D006030,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D000608,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D056929,http://purl.bioontology.org/ontology/MESH/D011546,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D001477,http://purl.bioontology.org/ontology/MESH/D053579,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D053632,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D000141,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D007015,http://purl.bioontology.org/ontology/MESH/D006105

TERMUI

T759880,T759879,T759878

TH

GHR (2014),ORD (2010),NLM (2011)

cui

C0878681

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C545036

tui

T047

Instance relations

Types