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Disease association ontology term - MONDO:0020123 - metabolic myopathy

Term summary

ID
MONDO:0020123
Name
metabolic myopathy
Ontology or CV name
Disease association
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.

Parents

Annotation

Disease association

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

References:

Genes:

MONDO:0009706 - hereditary myopathy with lactic acidosis due to ISCU deficiency

References:

Genes: