Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Dopa-responsive dystonia
Synonyms	DYT5 Segawa syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_484
ageOfOnset	Childhood
altLabel	DYT5 Segawa syndrome
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dystonia%5Bmajr%5D+AND+dopa%5Bmajr%5D+AND+%28segawa%5Btw%5D+OR+%22dopa+responsive%22%5Btw%5D%29
id_MeSH	C538007
id_MIM	128230 605407 612716
id_OMS	G24.8
id_Orpha	255
id_UMLS	C1851920
inheritance	Autosomal dominant Autosomal recessive
patType	group of phenomes
prefixIRI	hrdo:pat_id_484
prefLabel	Dopa-responsive dystonia
prevalence	1-9 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_13220 http://www.limics.org/hrdo/rdfns#pat_id_10525

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0016812	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016812	MONDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C116719	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016812	DOVES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116719	NCIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C580049	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080034	MEDDRA	LOOM
http://www.orpha.net/ORDO/Orphanet_255	ORDO	LOOM