Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Ehlers-Danlos syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_13266
ageOfOnset

Neonatal/infancy
id_MedDRA

10014316
id_Medline

neant
id_MeSH

D004535
id_OMS

Q79.6
id_Orpha

98249
id_SNOMEDCT

398114001
id_UMLS

C0013720
inheritance

X-linked recessive

Autosomal dominant

Autosomal recessive
patType

group of phenomes
prefixIRI

hrdo:pat_id_13266
prefLabel

Ehlers-Danlos syndrome
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_20308

http://www.limics.org/hrdo/rdfns#pat_id_19082

http://www.limics.org/hrdo/rdfns#pat_id_16853

http://www.limics.org/hrdo/rdfns#pat_id_16852

http://www.limics.org/hrdo/rdfns#pat_id_18224
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http://www.owl-ontologies.com/Ontology1358660052.owl#Ehlers-Danlos_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/MESH/D004535 MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17761 DERMLEX LOOM
http://purl.bioontology.org/ontology/RCTV2/PGy2.00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.428 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10014316 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.428 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.454.240 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10/Q79.6 ICD10 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013720 MEDLINEPLUS LOOM
http://localhost/plosthes.2017-1#10083 PLOSTHES LOOM
http://purl.bioontology.org/ontology/CSP/1849-3115 CRISP LOOM
http://purl.obolibrary.org/obo/DOID_13359 CLO LOOM
http://purl.obolibrary.org/obo/DOID_13359 DOID LOOM
http://purl.obolibrary.org/obo/DOID_13359 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13359 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13359 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_13359 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13359 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13359 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4303 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/PGy2. RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.515.240 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.83 ICD9CM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13359 NATPRO LOOM
http://purl.obolibrary.org/obo/OMIT_0005785 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_98249 ORDO LOOM
http://purl.bioontology.org/ontology/ICPC2P/L82013 ICPC2P LOOM
http://www.co-ode.org/ontologies/galen#EhlersDanlosSyndrome GALEN LOOM
http://purl.obolibrary.org/obo/DERMO_0001786 DERMO LOOM
http://purl.obolibrary.org/obo/MONDO_0020066 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0020066 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020066 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0020066 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020066 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0020066 KTAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004535 RH-MESH LOOM
http://purl.jp/bio/4/id/200906011159948496 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0013720 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037375 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C34568 BERO LOOM
http://nanbyodata.jp/ontology/NANDO_2200607 NANDO LOOM
rgo:09515 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.260 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.200.310 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/398114001 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34568 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.260 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Ehlers-Danlos_Syndrome CSEO LOOM
http://nanbyodata.jp/ontology/NANDO_1200645 NANDO LOOM