Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Otopalatodigital syndrome type 2
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_12060
id_Medline	neant
id_MeSH	C538089
id_MIM	304120
id_OMS	Q87.0
id_Orpha	90652
id_SNOMEDCT	42432003
id_UMLS	C1844696
inheritance	X-linked dominant
patType	clinical subtype
prefixIRI	hrdo:pat_id_12060
prefLabel	Otopalatodigital syndrome type 2
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
rgo:28504	GAMUTS	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084420	MEDDRA	LOOM
http://purl.org/skeletome/bonedysplasia#Otopalatodigital_syndrome_type_2	BDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010571	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010571	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010571	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010571	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010571	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538089	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/C538089	MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_90652	ORDO	LOOM
rgo:28010	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_0111784	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111784	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111784	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111784	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111784	FNS-H	LOOM