Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
Synonyms

DPD DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/274270
altLabel

DPD DEFICIENCY

DPYD DEFICIENCY

5-FLUOROURACIL TOXICITY

THYMINE-URACILURIA, HEREDITARY

PYRIMIDINEMIA, FAMILIAL
cui

C1959620

C0274576
Gene Locus

1p22
Gene Symbol

DPD

DPYD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU025734

http://purl.bioontology.org/ontology/OMIM/MTHU005726

http://purl.bioontology.org/ontology/OMIM/MTHU025733

http://purl.bioontology.org/ontology/OMIM/MTHU025735

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU005336

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU001218

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU004240

http://purl.bioontology.org/ontology/OMIM/MTHU002543

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU011923

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU036518

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU012405
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

274270
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
Scope Statement

Caused by mutation in the dihydropyrimidine dehydrogenase gene (DPYD, 612779.0001). [MOLECULAR BASIS]

Onset usually in infancy although later onset may occur [MISCELLANEOUS]

Heterozygous mutation carriers show toxicity to 5-fluorouracil (5FU) [MISCELLANEOUS]

Highly variable phenotype [MISCELLANEOUS]

Some individuals are asymptomatic [MISCELLANEOUS]
tui

T037

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10075669 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/32393008 SNOMEDCT 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/SNOMEDCT/77365006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10052622 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D054067 MESH 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/RCD/X40Ur RCD CUI
http://purl.bioontology.org/ontology/RCD/SL315 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/32393008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/DD-81436 SNMI 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://purl.bioontology.org/ontology/MESH/D054067 MESH 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://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