Pediatric Terminology

Last uploaded: January 25, 2013

Preferred Name	Metabolic_Myopathy
Synonyms
ID	http://www.owl-ontologies.com/Ontology1358660052.owl#Metabolic_Myopathy
ID	C98985
NCI_Definition	A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.
NCI_PT	Metabolic Myopathy
NICHD_Definition	_
prefixIRI	Metabolic_Myopathy
prefLabel	Metabolic_Myopathy
Subset_Association1	NICHD Pediatric Terminology
Subset_Association2	Neonatal Research Network Terminology
SYN
subClassOf	http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Metabolic_Disorder

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020123	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020123	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_98486	ORDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Myopathy	CSEO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13503	HRDO	LOOM
http://www.limics.fr/ontologies/ontolurgences#MyopathieMetabolique	ONTOLURGENCES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98985	NCIT	LOOM
http://purl.bioontology.org/ontology/SNMI/DA-51810	SNMI	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/26111005	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/X7096	RCD	LOOM
http://purl.obolibrary.org/obo/MONDO_0020123	DOVES	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068836	MEDDRA	LOOM
http://purl.jp/bio/4/id/200906001538105263	IOBC	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0270984	OCHV	LOOM
http://purl.obolibrary.org/obo/NCIT_C98985	BERO	LOOM