Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Osteoglophonic dwarfism
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_2420
id_MeSH	C536050
id_MIM	166250
id_OMS	Q87.1
id_Orpha	2645
id_SNOMEDCT	254144002
id_UMLS	C0432283
inheritance	Autosomal dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_2420
prefLabel	Osteoglophonic dwarfism
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008150	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008150	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008150	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008150	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536050	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/C536050	MESH	LOOM