Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Cranio-osteoarthropathy
Synonyms	Currarino idiopathic osteoarthropathy Reginato-Schiapachasse syndrome Currarino disease
ID	http://www.limics.org/hrdo/rdfns#pat_id_1691
ageOfDeath	Normal
ageOfOnset	Childhood
altLabel	Currarino idiopathic osteoarthropathy Reginato-Schiapachasse syndrome Currarino disease
id_Medline	neant
id_MIM	259100
id_OMS	M89.4
id_Orpha	1525
inheritance	Autosomal recessive
patType	malformation syndrome
prefixIRI	hrdo:pat_id_1691
prefLabel	Cranio-osteoarthropathy
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_1525	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015466	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015466	MONDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/720753002	SNOMEDCT	LOOM
http://purl.org/skeletome/bonedysplasia#Cranio-osteoarthropathy	BDO	LOOM
http://www.orpha.net/ORDO/Orphanet_1525	ORDO	LOOM
http://identifiers.org/omim/259100	REXO	LOOM
http://identifiers.org/omim/259100	GEXO	LOOM
http://identifiers.org/omim/259100	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_259100	CCO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015466	DOVES	LOOM