Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

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/NCIT_C98985
code	C98985
Contributing_Source	NICHD
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.
in_subset	http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C99147
label	Metabolic Myopathy
Preferred_Name	Metabolic Myopathy
prefixIRI	NCIT:C98985
prefLabel	Metabolic Myopathy
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0270984
subClassOf	http://purl.obolibrary.org/obo/NCIT_C101216

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://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