Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Cervical dystonia
Synonyms	Spasmodic torticollis
ID	http://www.limics.org/hrdo/rdfns#pat_id_12520
ageOfDeath	Normal
ageOfOnset	Adulthood
altLabel	Spasmodic torticollis
id_Medline	neant
id_MIM	602124 614860 615034
id_OMS	G24.3
id_Orpha	93962
id_SNOMEDCT	230322000
id_UMLS	C0393602
inheritance	Autosomal dominant
patType	disease
prefixIRI	hrdo:pat_id_12520
prefLabel	Cervical dystonia
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://sbmi.uth.tmc.edu/ontology/ochv#C0949445	OCHV	LOOM
http://purl.obolibrary.org/obo/MONDO_0000481	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0000481	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000481	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000481	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000481	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0000481	OBA	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU040502	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0050840	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050840	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0050840	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050840	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0050840	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050840	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050840	FNS-H	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064124	MEDDRA	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#53401	OCHV	LOOM