Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Von Willebrand disease type 2A
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_17613
id_Medline	neant
id_MIM	613554
id_OMS	D68.0
id_Orpha	166084
id_SNOMEDCT	359711001 359714009 87397002
id_UMLS	C1282968
inheritance	Autosomal dominant Autosomal recessive
patType	clinical subtype
prefixIRI	hrdo:pat_id_17613
prefLabel	Von Willebrand disease type 2A
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0015628	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_166084	ORDO	LOOM
http://purl.bioontology.org/ontology/ICD10CM/D68.020	ICD10CM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131686	NCIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0015628	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0015628	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0015628	EFO	LOOM
http://purl.obolibrary.org/obo/NCIT_C131686	BERO	LOOM