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.
Term:
myopathy, lactic acidosis, and sideroblastic anemia
A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. (DO)
Synonyms:
exact_synonym:
HEREDITARY SIDEROBLASTIC ANEMIA WITH MYOPATHY AND LACTIC ACIDOSIS; MLASA; Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia