JSON

Dihydropyrimidine Dehydrogenase Deficiency

Go to external page http://purl.bioontology.org/ontology/MESH/D054067

An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.

Instance info

Synonyms

Thymine Uraciluria, Hereditary, Deficiency, Dihydropyrimidine Dehydrogenase, Familial Pyrimidinemia, Hereditary Thymine Uraciluria, Deficiencies, Dihydropyrimidine Dehydrogenase, Familial Pyrimidinemias, Thymine-Uraciluria, Hereditary, Hereditary Thymine-Uracilurias, Hereditary Thymine-Uraciluria, Dihydropyrimidine Dehydrogenase Deficiencies, Pyrimidinemias, Familial, Deficiency, DPD, Pyrimidemias, Familial, Pyrimidemia, Familial, Deficiencies, DPD, Familial Pyrimidemias, DPD Deficiencies, DPD Deficiency, DPD-Mangel (DE), Dihydropyrimidin-Dehydrogenase-Mangel (DE), Dihydropyrimidinurias, Familial Pyrimidemia, Dehydrogenase Deficiencies, Dihydropyrimidine, Dihydropyrimidinuria, Pyrimidinemia, Familial, Dehydrogenase Deficiency, Dihydropyrimidine, Thymine-Uracilurias, Hereditary

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

20080101

HN

2008

MDA

20070709

MMR

20130708

MN

C18.452.648.798.183,C16.320.565.798.183

PM

2008

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,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/Q000469,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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/D007926,http://purl.bioontology.org/ontology/MESH/D006073

TERMUI

T841274,T727171,T841273,T812679,T679828,T679829,T679827,T843522

TH

NLM (2008),GHR (2014),ORD (2010),OMIM (2013),NLM (2011)

cui

C3495551,C1959620

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C531667

tui

T047

Instance relations

Types