Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_75 http://www.limics.org/hrdo/rdfns#pat_id_75
Preferred Name	Thomsen and Becker disease
Synonyms	Myotonia congenita
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Myotonia congenita
prefLabel	Thomsen and Becker disease
id_MIM	160800 255700
prevalence	1-9 / 100 000
inheritance	Autosomal dominant Autosomal recessive
id_OMS	G71.1
prefixIRI	hrdo:pat_id_75
id_Orpha	614
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11
patType	disease
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=myotonia+congenita%5Bmh%5D+OR+Thomsen+Dis%5Bti%5D+OR+Thomsen%27s+Dis%5Bti%5D+OR+myotonia+congenita%5Bti%5D
ageOfOnset	Neonatal/infancy
ageOfDeath	Normal

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