Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Von Willebrand disease type 2
Synonyms	Willebrand disease type 2
ID	http://www.limics.org/hrdo/rdfns#pat_id_17612
ageOfOnset	Variable
altLabel	Willebrand disease type 2
id_Medline	neant
id_MeSH	D056728
id_MIM	613554
id_OMS	D68.0
id_Orpha	166081
id_SNOMEDCT	128107007
id_UMLS	C1264040
inheritance	Autosomal dominant Autosomal recessive
patType	clinical subtype
prefixIRI	hrdo:pat_id_17612
prefLabel	Von Willebrand disease type 2
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://www.orpha.net/ORDO/Orphanet_166081	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_166081	ORDO	LOOM
http://www.orpha.net/ORDO/Orphanet_166081	EFO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.141.900.200	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.920.200	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/D056728	MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036582	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/OMIT_0026697	OMIT	LOOM
http://purl.bioontology.org/ontology/ICD10CM/D68.02	ICD10CM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.900.200	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.920.200	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056728	RH-MESH	LOOM
http://purl.jp/bio/4/id/201006060120697080	IOBC	LOOM
http://purl.bioontology.org/ontology/OMIM/613554	OMIM	LOOM