ONTOLOGY REPORT - ANNOTATIONS


Term:myopathy, lactic acidosis, and sideroblastic anemia
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Accession:DOID:0080099 term browser browse the term
Synonyms:exact_synonym: HEREDITARY SIDEROBLASTIC ANEMIA WITH MYOPATHY AND LACTIC ACIDOSIS;   MLASA;   Mitochondrial myopathy and sideroblastic anemia
 primary_id: MESH:C536101
 alt_id: RDO:0001536
 xref: OMIM:PS600462
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myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:8554872
RGD:11554173
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
RGD:11554173
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
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:7240710
RGD:8554872
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4715
      MELAS syndrome 17
        myopathy, lactic acidosis, and sideroblastic anemia 4
          Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 1
          Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 1
          Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    mitochondrial myopathy 78
                      mitochondrial encephalomyopathy 43
                        MELAS syndrome 17
                          myopathy, lactic acidosis, and sideroblastic anemia 4
                            Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 1
                            Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 1
                            Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 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.