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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hereditary myopathy with lactic acidosis due to ISCU deficiency
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Accession:EFO:MONDO:0009706 term browser browse the term
Definition:Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Synonyms:exact_synonym: ISCU myopathy;   aconitase deficiency;   iron-sulfur cluster deficiency myopathy;   myopathy with exercise intolerance, Swedish type
 related_synonym: HML;   myoglobinuria due to abnormal glycolysis;   myopathy with deficiency of succinate dehydrogenase and aconitase;   myopathy with lactic acidosis, hereditary
 alt_id: MONDO:0009706
 xref: GARD:16643;   ICD9:259.8;   MEDGEN:342573;   MESH:C564972;   MIM:255125;   ORDO:43115;   SCTID:699268002;   UMLS:C1850718


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            hereditary myopathy with lactic acidosis due to ISCU deficiency 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            muscle tissue disorder 0
              skeletal muscle disorder 0
                myopathy 0
                  metabolic myopathy 0
                    hereditary myopathy with lactic acidosis due to ISCU deficiency 0
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