Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Von Willebrand disease
Synonyms	Willebrand disease Hereditary Willebrand disease
ID	http://www.limics.org/hrdo/rdfns#pat_id_3497
ageOfDeath	Normal
ageOfOnset	Variable
altLabel	Willebrand disease Hereditary Willebrand disease
id_MedDRA	10047715
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=von+willebrand+disease%5Bmajr%5D+OR+%28%28willebrand+disease%5Btw%5D+OR+willebrand%27s+disease%5Btw%5D%29+NOT+medline%5Bsb%5D%29
id_MeSH	D014842
id_MIM	193400 314560
id_OMS	D68.0
id_Orpha	903
id_SNOMEDCT	128105004
id_UMLS	C0042974
inheritance	Autosomal dominant Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_3497
prefLabel	Von Willebrand disease
prevalence	1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

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Mapping To	Ontology	Source
http://nanbyodata.jp/ontology/NANDO_2200682	NANDO	LOOM
http://localhost/plosthes.2017-1#2290	PLOSTHES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#von_Willebrand_Disease	CSEO	LOOM
rgo:22863	GAMUTS	LOOM
http://www.semanticweb.org/ontologies/2010/10/BPO.owl#von_willebrand_disease	BHO	LOOM
http://purl.obolibrary.org/obo/NCIT_C68677	BERO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18916	DERMLEX	LOOM
http://www.orpha.net/ORDO/Orphanet_903	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_903	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_903	ORDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0042974	OCHV	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU016680	OMIM	LOOM
http://www.co-ode.org/ontologies/galen#VonWillebrandDisease	GALEN	LOOM
http://purl.bioontology.org/ontology/ICD10CM/D68.0	ICD10CM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C68677	NCIT	LOOM