Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Osteogenesis imperfecta type 3
Synonyms	OI type 3
ID	http://www.limics.org/hrdo/rdfns#pat_id_18793
ageOfOnset	Neonatal/infancy
altLabel	OI type 3
id_Medline	neant
id_MeSH	C536044
id_MIM	259420 259440 610682 610915 613848 613982 614856 615220
id_OMS	Q78.0
id_Orpha	216812
id_SNOMEDCT	385483009
id_UMLS	C0268362
inheritance	Autosomal dominant Autosomal recessive
patType	clinical subtype
prefixIRI	hrdo:pat_id_18793
prefLabel	Osteogenesis imperfecta type 3
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110339	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0009804	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009804	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009804	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009804	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_216812	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536044	RH-MESH	LOOM
rgo:27110	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_0110339	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0110339	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110339	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0110339	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110339	FNS-H	LOOM
http://purl.bioontology.org/ontology/MESH/C536044	MESH	LOOM