Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Primary hypertrophic osteoarthropathy
Synonyms	PHO Idiopathic hypertrophic osteoarthropathy
ID	http://www.limics.org/hrdo/rdfns#pat_id_19561
ageOfDeath	Normal
ageOfOnset	Neonatal/infancy
altLabel	PHO Idiopathic hypertrophic osteoarthropathy
id_Medline	neant
id_MeSH	D010004
id_MIM	167100 259100 614441
id_OMS	M89.4
id_Orpha	248095
id_UMLS	C0029411
inheritance	Autosomal recessive
patType	group of phenomes
prefixIRI	hrdo:pat_id_19561
prefLabel	Primary hypertrophic osteoarthropathy
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_16849 http://www.limics.org/hrdo/rdfns#pat_id_12356

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85023	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C85023	BERO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14283	NATPRO	LOOM
http://www.orpha.net/ORDO/Orphanet_248095	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016620	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016620	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016620	DOVES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Primary_Hypertrophic_Osteoarthropathy	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_14283	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_14283	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_14283	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_14283	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_14283	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_14283	FNS-H	LOOM