BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

dihydropyrimidine dehydrogenase deficiency

Synonyms

thymine-uracilurea

Definitions

A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.

ID

http://purl.obolibrary.org/obo/DOID_14218

database_cross_reference

UMLS_CUI:C3495551

SNOMEDCT_US_2020_03_01:238016000

UMLS_CUI:C1959620

OMIM:274270

MESH:D054067

GARD:19

NCI:C84672

has exact synonym

thymine-uracilurea

Dihydrouracil Dehydrogenase deficiency

Dihydropyrimidine dehydrogenase deficiency

familial pyrimidinaemia

has_obo_namespace

disease_ontology

id

DOID:14218

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

dihydropyrimidine dehydrogenase deficiency

notation

DOID:14218

prefLabel

dihydropyrimidine dehydrogenase deficiency

textual definition

A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.

subClassOf

http://purl.obolibrary.org/obo/DOID_653

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14218 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14218 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14218 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14218 FNS-H SAME_URI
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 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://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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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