National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Jump to:
loading...
Preferred Name

Dihydropyrimidine Dehydrogenase Deficiency
Synonyms

DPYD Deficiency

Dihydrouracil Dehydrogenase Deficiency

Thymine-Uraciluria

Thymine-Uracilurea

DPD Deficiency

Dihydropyrimidine Dehydrogenase Deficiency
Definitions

A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84672
code

C84672
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142800

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977
Contributing_Source

CTRP
DEFINITION

A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil.
Display_Name

Dihydropyrimidine Dehydrogenase Deficiency
FULL_SYN

DPYD Deficiency

Dihydrouracil Dehydrogenase Deficiency

Thymine-Uraciluria

Thymine-Uracilurea

DPD Deficiency

Dihydropyrimidine Dehydrogenase Deficiency
label

Dihydropyrimidine Dehydrogenase Deficiency
Preferred_Name

Dihydropyrimidine Dehydrogenase Deficiency
prefixIRI

Thesaurus:C84672
Semantic_Type

Disease or Syndrome
UMLS_CUI

C1959620
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
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://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 EFO 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