Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Fibrous dysplasia of bone
Synonyms	Dysplasie ostéofibreuse Osteofibrous dysplasia
ID	http://www.limics.org/hrdo/rdfns#pat_id_743
ageOfDeath	Normal Normal Normal Normale Normal Normal Normal
ageOfOnset	Kindesalter Infanzia Childhood Infância Infancia Childhood Enfance
altLabel	Dysplasie ostéofibreuse Osteofibrous dysplasia
id_MedDRA	10016664
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fibrous+dysplasia+of+bone%22%5BMH%5D+OR+Fibrous+Dysplasia+of+Bone%5BTi%5D+OR+ALBRIGHT%27S+DISEASE%5BTW%5D+OR+JAFFE-LICHTENSTEIN%5Btw%5D
id_MeSH	D005357
id_MIM	607278
id_OMS	Q78.1
id_Orpha	249
id_SNOMEDCT	10623005
inheritance	Esporádico Sporadic Sporadisch Sporadique Sporadica Sporadic Esporádica
patType	malformation syndrome
prefixIRI	hrdo:pat_id_743
prefLabel	Dysplasie fibreuse des os Displasia fibrosa de hueso Knochendysplasie, fibröse Fibrous dysplasia of bone Displasia fibrosa dell'osso Displasia óssea fibrosa
prevalence	Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

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Mapping To	Ontology	Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.375	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0006568	OMIT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10016664	MEDDRA	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5038	OCHV	LOOM
http://www.orpha.net/ORDO/Orphanet_249	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/10623005	SNOMEDCT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005357	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036726	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/MESH/D005357	MESH	LOOM
http://purl.jp/bio/4/id/200906072607962925	IOBC	LOOM