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Preferred Name

Metabolic Myopathy
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98985
code

C98985
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
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.
FULL_SYN

Metabolic Myopathy
label

Metabolic Myopathy
Preferred_Name

Metabolic Myopathy
prefixIRI

Thesaurus:C98985
prefLabel

Metabolic Myopathy
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0270984
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101216
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0020123 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020123 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_98486 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM