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ONTOLOGY REPORT - ANNOTATIONS


Term:myopathy, lactic acidosis, and sideroblastic anemia 1
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Accession:DOID:0111185 term browser browse the term
Definition:A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. (DO)
Synonyms:exact_synonym: MLASA1
 primary_id: OMIM:600462
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myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      MELAS syndrome 17
        myopathy, lactic acidosis, and sideroblastic anemia 4
          myopathy, lactic acidosis, and sideroblastic anemia 1 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        MELAS syndrome 17
                          myopathy, lactic acidosis, and sideroblastic anemia 4
                            myopathy, lactic acidosis, and sideroblastic anemia 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.