RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis.
Synonyms:
exact_synonym:
COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY; MMIT; Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency; RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
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