Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Von Willebrand disease type 3
Synonyms	Willebrand disease type 3
ID	http://www.limics.org/hrdo/rdfns#pat_id_17617
ageOfOnset	Neonatal/infancy
altLabel	Willebrand disease type 3
id_Medline	neant
id_MeSH	D056729
id_MIM	277480
id_OMS	D68.0
id_Orpha	166096
id_SNOMEDCT	128108002
id_UMLS	C1264041
inheritance	Autosomal recessive
patType	clinical subtype
prefixIRI	hrdo:pat_id_17617
prefLabel	Von Willebrand disease type 3
prevalence	1-9 / 1 000 000
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#D056729	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#von_Willebrand_Disease_Type_3	CSEO	LOOM
http://www.orpha.net/ORDO/Orphanet_166096	ORDO	LOOM
http://purl.jp/bio/4/id/201006075509813385	IOBC	LOOM
http://purl.obolibrary.org/obo/NCIT_C85213	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.920.300	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/D056729	MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036583	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/OMIT_0026698	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.141.900.300	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.920.300	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.900.300	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85213	NCIT	LOOM
http://purl.bioontology.org/ontology/ICD10CM/D68.03	ICD10CM	LOOM
http://purl.bioontology.org/ontology/OMIM/277480	OMIM	LOOM
http://id.nlm.nih.gov/mesh/D056729	MDM	LOOM