Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Marfan syndrome
Synonyms

MFS
ID

http://www.limics.org/hrdo/rdfns#pat_id_109
ageOfDeath

Any age
ageOfOnset

Variable
altLabel

MFS
id_MedDRA

10026829
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22marfan+syndrome%22%5BMeSH+Terms%5D+OR+Marfan+syndrome%5BText+Word%5D
id_MeSH

D008382
id_MIM

154700

610380
id_OMS

Q87.4
id_Orpha

558
id_SNOMEDCT

19346006
id_UMLS

C0024796
inheritance

Autosomal dominant
patType

malformation syndrome
prefixIRI

hrdo:pat_id_109
prefLabel

Marfan syndrome
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Delete Mapping To Ontology Source
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_aa0eadbd_cef5_4cac_950c_1bfb5aa832bc STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_aa0eadbd_cef5_4cac_950c_1bfb5aa832bc CVAO LOOM
http://purl.org/skeletome/bonedysplasia#Marfan_syndrome BDO LOOM
http://purl.bioontology.org/ontology/MESH/D008382 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Marfan_s_Syndrome CSEO LOOM
http://www.orpha.net/ORDO/Orphanet_558 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200968 NANDO LOOM
rgo:12511 GAMUTS LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.82 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.82 NLMVS LOOM
http://localhost/plosthes.2017-1#3227 PLOSTHES LOOM
http://purl.obolibrary.org/obo/DERMO_0001790 DERMO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.4 ICD10CM LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859278 ACVD_ONTOLOGY LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.725 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.550 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14671 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.540 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#MarfanSyndrome GALEN LOOM
http://purl.bioontology.org/ontology/HL7/C0024796 HL7 LOOM
http://purl.bioontology.org/ontology/LNC/LA29643-6 LOINC LOOM
http://purl.obolibrary.org/obo/OMIM_154700 CCO LOOM
http://identifiers.org/omim/154700 REXO LOOM
http://identifiers.org/omim/154700 GEXO LOOM
http://identifiers.org/omim/154700 RETO LOOM
http://purl.obolibrary.org/obo/DOID_14323 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14323 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14323 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14323 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14323 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14323 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14323 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14323 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C34807 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0024796 OCHV LOOM
http://purl.bioontology.org/ontology/CSP/1849-5992 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.674 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.725 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14323 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008382 RH-MESH LOOM
http://pat.nichd.nih.gov/maternalconditions/C0024796 PATMHC LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.720 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0009452 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036638 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7748 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/154700 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34807 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_1200644 NANDO LOOM