Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Congenital myopathy
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_12867
id_MedDRA	10062547
id_Medline	neant
id_MIM	255300
id_OMS	G71.2
id_Orpha	97245
id_UMLS	C0270960
patType	group of phenomes
prefixIRI	hrdo:pat_id_12867
prefLabel	Congenital myopathy
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_18543

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://nanbyodata.jp/ontology/NANDO_2100234	NANDO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU065401	OMIM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0270960	OCHV	LOOM
http://purl.obolibrary.org/obo/DOID_0081337	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0081337	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0081337	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0081337	NIFSTD	LOOM
http://purl.obolibrary.org/obo/MONDO_0019952	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0019952	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019952	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019952	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019952	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0019952	OBA	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062547	MEDDRA	LOOM
http://purl.bioontology.org/ontology/RCD/X708t	RCD	LOOM
http://purl.obolibrary.org/obo/DOID_0080100	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080100	FNS-H	LOOM
http://purl.bioontology.org/ontology/RCTV2/F390500	RCTV2	LOOM
http://purl.jp/bio/4/id/200906067037476041	IOBC	LOOM
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_97245	ORDO	LOOM