Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	metabolic myopathy
Synonyms
Definitions	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.
ID	http://purl.obolibrary.org/obo/MONDO_0020123
database_cross_reference	GARD:19472 UMLS:C0270984 MEDGEN:452364 MedDRA:10068836 SCTID:26111005 Orphanet:98486 NCIT:C98985 ICD9:359.89
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.
id	MONDO:0020123
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
label	metabolic myopathy
notation	MONDO:0020123
prefLabel	metabolic myopathy
skos_closeMatch	http://identifiers.org/meddra/10068836
skos_exactMatch	http://identifiers.org/snomedct/26111005 http://identifiers.org/medgen/452364 http://purl.obolibrary.org/obo/Orphanet_98486 http://purl.obolibrary.org/obo/NCIT_C98985 http://linkedlifedata.com/resource/umls/id/C0270984
treeView	http://purl.obolibrary.org/obo/MONDO_0005336
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005336

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020123	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020123	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020123	DOVES	SAME_URI
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	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0020123	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020123	DOVES	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068836	MEDDRA	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Metabolic_Myopathy	PEDTERM	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