Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Paroxysmal cold hemoglobinuria
Synonyms	Donath-Landsteiner hemolytic anemia PCH Donath-Landsteiner syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_11932
ageOfDeath	Before age 5
ageOfOnset	Childhood
altLabel	Donath-Landsteiner hemolytic anemia PCH Donath-Landsteiner syndrome
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Paroxysmal+cold+hemoglobinuria%5Bti%5D+OR+Hemoglobinuria,+Paroxysmal%5Bmh%5D
id_MeSH	C538618
id_OMS	D59.6
id_Orpha	90035
id_SNOMEDCT	127057004 62871001
id_UMLS	C0272129
inheritance	Multigenic/multifactorial
patType	disease
prefixIRI	hrdo:pat_id_11932
prefLabel	Paroxysmal cold hemoglobinuria
prevalence	1-9 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019533	MONDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0086774	OCHV	LOOM
http://nanbyodata.jp/ontology/NANDO_1200308	NANDO	LOOM
http://purl.jp/bio/4/id/200906040558509480	IOBC	LOOM
http://nanbyodata.jp/ontology/NANDO_2200619	NANDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/127057004	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0019533	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_90035	ORDO	LOOM