Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Familial hemophagocytic lymphohistiocytosis
Synonyms	Familial HLH
ID	http://www.limics.org/hrdo/rdfns#pat_id_282
ageOfOnset	Neonatal/infancy
altLabel	Familial HLH
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=histiocytosis%2Cnon+langerhans+cell/ge%5Bmh%3Anoexp%5D+OR+histiocytosis%2Cnon+langerhans+cell/cn%5Bmh%3Anoexp%5D
id_MIM	267700 603552 603553 608898 613101
id_OMS	D76.1
id_Orpha	540
id_SNOMEDCT	398250003
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_282
prefLabel	Familial hemophagocytic lymphohistiocytosis
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/DERMO_0003017	DERMO	LOOM
http://www.orpha.net/ORDO/Orphanet_540	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_540	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_540	ORDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C61276	BERO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15524	DERMLEX	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10070916	MEDDRA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Familiar_Hemophagocytic_Lymphohistiocytosis	CSEO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61276	NCIT	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/398250003	SNOMEDCT	LOOM