Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Dihydropyrimidine dehydrogenase deficiency
Synonyms

Familial pyrimidinemia
ID

http://www.limics.org/hrdo/rdfns#pat_id_774
altLabel

Familial pyrimidinemia

Pirimidinemia familiare

Pyrimidinämie, familiäre

Pirimidinemia familiar

Pyrimidinémie familiale
id_MedDRA

10052622
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dihydrouracil+dehydrogenase+%28nadp%29/df+OR+%28Dihydropyrimidine+dehydrogenase%5Bti%5D+deficiency%5Bti%5D%29+OR+Pyrimidinemia%5Bti%5D
id_MeSH

D054067
id_MIM

274270
id_OMS

E79.8
id_Orpha

1675
id_SNOMEDCT

77365006
id_UMLS

C1959620
patType

disease
prefixIRI

hrdo:pat_id_774
prefLabel

Deficit di diidropirimidina deidrogenasi

Deficiência de diidropirimidina desidrogenase

Déficit en dihydropyrimidine déshydrogénase

Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidin-Dehydrogenase-Mangel

Déficit de dihidropirimidina deshidrogenasa
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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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://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