Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Cockayne syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_638
ageOfDeath

Any age
ageOfOnset

Variable
id_MedDRA

10009835
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cockayne+syndrome%22%5BMeSH+Terms%5D+OR+%28Cockayne+syndrome%5BText+Word%5D+NOT+medline%5Bsb%5D%29
id_MeSH

D003057
id_MIM

133540

214150

216400

216411

278780

610651

610756

610758
id_OMS

Q87.1
id_Orpha

191
id_SNOMEDCT

21086008
id_UMLS

C0009207
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_638
prefLabel

Cockayne syndrome
prevalence

Unknown
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_0016006 MONDO LOOM
http://purl.obolibrary.org/obo/OMIT_0004367 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D003057 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.562 RH-MESH LOOM
rgo:09507 GAMUTS LOOM
http://www.radlex.org/RID/RID5131 RADLEX LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00402 SNMI LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/21086008 SNOMEDCT LOOM
http://www.ebi.ac.uk/efo/EFO_0000359 CLO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14435 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000628 DERMO LOOM
http://nanbyodata.jp/ontology/NANDO_1200677 NANDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy6100 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.362 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2962 NATPRO LOOM
http://purl.obolibrary.org/obo/NCIT_C9460 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0009207 OCHV LOOM
http://purl.jp/bio/4/id/200906016922914095 IOBC LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042486 PDQ LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036590 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9460 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_2200832 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.250 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2962 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2962 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2962 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2962 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2962 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2962 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2962 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PKy61 RCD LOOM
http://radlex.org/RID/RID5131 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3116 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003057 RH-MESH LOOM
http://localhost/plosthes.2017-1#4676 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_191 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.250 RH-MESH LOOM