myopathy, lactic acidosis, and sideroblastic anemia 1 Disease Ontology Browser

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myopathy, lactic acidosis, and sideroblastic anemia 1 (DOID:0111185)
Alliance: disease page
Synonyms: MLASA1
Alt IDs: OMIM:600462
Definition: A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.

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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