Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_21 http://www.limics.org/hrdo/rdfns#pat_id_21
Preferred Name	Paroxysmal nocturnal hemoglobinuria
Synonyms	PNH Marchiafava-Micheli disease
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PNH Marchiafava-Micheli disease
prefLabel	Paroxysmal nocturnal hemoglobinuria
id_MIM	300818
prevalence	1-9 / 1 000 000
inheritance	Sporadic
id_UMLS	C0024790
id_OMS	D59.5
prefixIRI	hrdo:pat_id_21
id_Orpha	447
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11
id_SNOMEDCT	1963002
patType	disease
id_MedDRA	10034042
id_MeSH	D006457
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hemoglobinuria%2C+paroxysmal%5Bmh%5D+OR+Paroxysmal+nocturnal+hemoglobinuria%5BTi%5D+OR+paroxysmal+hemoglobinuria%5Bti%5D
ageOfOnset	Adolescence / Young adulthood
ageOfDeath	Any age

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