myopathy, lactic acidosis, and sideroblastic anemia 2 Disease Ontology Browser

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myopathy, lactic acidosis, and sideroblastic anemia 2 (DOID:0111186)
Alliance: disease page
Synonyms: MLASA2
Alt IDs: OMIM:613561
Definition: A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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