Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Li-Fraumeni syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_196
ageOfOnset

Erwachsenenalter

Adulte

La edad adulta

Età adulta

Adulthood

Adulthood

Idade adulta
id_MedDRA

10066795
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=li+fraumeni+syndrome%5Bmh%5D+OR+Li+Fraumeni+Syndrome%5Btw%5D
id_MeSH

D016864
id_MIM

151623

609265

609266
id_OMS

D48.9
id_Orpha

524
id_SNOMEDCT

428850001
id_UMLS

C0085390
inheritance

Autosomal dominant

Autosomique dominant

Autosomal dominant

Autosomica dominante

Autosómico dominate

Autosomal-dominant

Autossómica dominante
patType

disease
prefixIRI

hrdo:pat_id_196
prefLabel

Síndrome de Li-Fraumeni

Li-Fraumeni-Syndrom

Sindrome di Li-Fraumeni

Li-Fraumeni syndrome

Síndrome de Li-Fraumeni

Syndrome de Li-Fraumeni
prevalence

Inconnu

Unknown

Unknown

Desconocido

Unbekannt

Desconhecido

Sconosciuto
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_0018875 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018875 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016864 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_3012 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3012 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3012 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3012 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3012 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3012 FNS-H LOOM
http://identifiers.org/omim/151623 REXO LOOM
http://identifiers.org/omim/151623 GEXO LOOM
http://identifiers.org/omim/151623 RETO LOOM
http://purl.obolibrary.org/obo/OMIT_0017298 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3012 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/428850001 SNOMEDCT LOOM
http://id.nlm.nih.gov/mesh/D016864 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C3476 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038518 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066795 MEDDRA LOOM
urn:agi-pathway:uuid-1c2f5666-fb0e-41b4-96de-9a61d39ffca8 BPT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3476 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/151623 OMIM LOOM
http://www.orpha.net/ORDO/Orphanet_524 ORDO LOOM
http://purl.jp/bio/4/id/200906098156792760 IOBC LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042844 PDQ LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15578 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.520 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D016864 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0085390 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0018875 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018875 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_151623 CCO LOOM
http://www.gamuts.net/entity#Li_Fraumeni_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/CSP/4006-0058 CRISP LOOM