FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term myopathy, lactic acidosis, and sideroblastic anemia 3 ID (Ontology) DOID:0111184 (Human Disease)
Definition A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome.
Also Known As "MLASA3"
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  mitochondrial myopathy
   |__myopathy, lactic acidosis, and sideroblastic anemia
       |__myopathy, lactic acidosis, and sideroblastic anemia 3
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Is a myopathy, lactic acidosis, and sideroblastic anemia
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Synonyms
  • "MLASA3" EXACT OMO:0003012
Secondary IDs
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MIM:500011