Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Dihydropyrimidine Dehydrogenase Deficiency

Synonyms

Pyrimidinemia, Familial

Definitions

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.

ID

http://purl.bioontology.org/ontology/MESH/D054067

altLabel

Pyrimidinemia, Familial

Dehydrogenase Deficiencies, Dihydropyrimidine

Dehydrogenase Deficiency, Dihydropyrimidine

Dihydropyrimidinuria

Thymine Uraciluria, Hereditary

Thymine-Uraciluria, Hereditary

Hereditary Thymine Uraciluria

DPD Deficiency

Familial Pyrimidinemia

Familial Pyrimidemias

DPD Deficiencies

Pyrimidemias, Familial

Deficiency, Dihydropyrimidine Dehydrogenase

Hereditary Thymine-Uracilurias

Deficiencies, Dihydropyrimidine Dehydrogenase

Familial Pyrimidemia

Pyrimidinemias, Familial

Thymine-Uracilurias, Hereditary

Deficiency, DPD

Pyrimidemia, Familial

Dihydropyrimidine Dehydrogenase Deficiencies

Dihydropyrimidinurias

Familial Pyrimidinemias

Deficiencies, DPD

Hereditary Thymine-Uraciluria

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

cui

C1959620

C3495551

DC

1

definition

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.

DX

20080101

HN

2008

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

2008

Mapped from

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

MDA

20070709

MMR

20130708

MN

C16.320.565.798.183

C18.452.648.798.183

notation

D054067

prefLabel

Dihydropyrimidine Dehydrogenase Deficiency

TERMUI

T727171

T841274

T679828

T679829

T812679

T841273

T843522

T679827

TH

OMIM (2013)

NLM (2008)

GHR (2014)

NLM (2011)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D011686

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http://purl.bioontology.org/ontology/MDRGER/10075669 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/222748 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10052622 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10075669 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10075669 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/612779 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/77365006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10052622 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/77365006 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181263 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D054067 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-44230 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10052622 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/274270 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X40Ur RCD CUI
http://purl.obolibrary.org/obo/MONDO_0010130 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010130 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14218 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14218 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14218 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14218 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14218 FNS-H LOOM
http://www.limics.org/hrdo/rdfns#pat_id_774 HRDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/77365006 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_1675 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0025663 OMIT LOOM
http://identifiers.org/omim/274270 REXO LOOM
http://identifiers.org/omim/274270 GEXO LOOM
http://identifiers.org/omim/274270 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.798.183 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84672 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_274270 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054067 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.798.183 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036706 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0010130 DOVES LOOM
http://purl.jp/bio/4/id/200906038453746260 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052622 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C84672 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/274270 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Dihydropyrimidine_Dehydrogenase_Deficiency CSEO LOOM
http://purl.bioontology.org/ontology/RCD/X40Ur RCD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14218 NATPRO LOOM