Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Von Willebrand disease type 1
Synonyms	Willebrand disease type 1
ID	http://www.limics.org/hrdo/rdfns#pat_id_17611
ageOfOnset	Variable
altLabel	Willebrand disease type 1
id_Medline	neant
id_MeSH	D056725
id_MIM	193400
id_OMS	D68.0
id_Orpha	166078
id_SNOMEDCT	128106003
id_UMLS	C1264039
inheritance	Autosomal dominant
patType	clinical subtype
prefixIRI	hrdo:pat_id_17611
prefLabel	Von Willebrand disease type 1
prevalence	1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.920.100	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/D056725	MESH	LOOM
http://purl.jp/bio/4/id/201006091654772170	IOBC	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036581	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.920.100	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0026694	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.141.900.100	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056725	RH-MESH	LOOM
http://purl.bioontology.org/ontology/ICD10CM/D68.01	ICD10CM	LOOM
http://purl.obolibrary.org/obo/NCIT_C131685	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/193400	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131685	NCIT	LOOM
http://www.orpha.net/ORDO/Orphanet_166078	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_166078	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_166078	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.900.100	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D056725	MDM	LOOM