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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:myopathy, lactic acidosis, and sideroblastic anemia
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Accession:DOID:0080099 term browser browse the term
Definition:A mitochondrial myopathy that is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. (DO)
Synonyms:exact_synonym: HEREDITARY SIDEROBLASTIC ANEMIA WITH MYOPATHY AND LACTIC ACIDOSIS;   MLASA;   Mitochondrial myopathy and sideroblastic anemia
 primary_id: MESH:C536101
 xref: OMIM:PS600462;   ORDO:2598
For additional species annotation, visit the Alliance of Genome Resources.


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myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia ClinVar PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Pus1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:28492532 NCBI chr12:51,936,721...51,945,930
Ensembl chr12:51,937,175...51,945,928
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM
ClinVar
PMID:7726239 PMID:14981724 PMID:15108122 PMID:17056637 PMID:23707380 PMID:25227147 PMID:25741868 PMID:28492532 NCBI chr12:51,936,721...51,945,930
Ensembl chr12:51,937,175...51,945,928
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30026338 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      myelodysplastic syndrome 115
        sideroblastic anemia 20
          myopathy, lactic acidosis, and sideroblastic anemia 4
            myopathy, lactic acidosis, and sideroblastic anemia 1 1
            myopathy, lactic acidosis, and sideroblastic anemia 2 2
            myopathy, lactic acidosis, and sideroblastic anemia 3 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          Hematologic Neoplasms 838
            Bone Marrow Neoplasms 351
              bone marrow cancer 351
                myelodysplastic syndrome 115
                  Refractory Anemia 31
                    sideroblastic anemia 20
                      myopathy, lactic acidosis, and sideroblastic anemia 4
                        myopathy, lactic acidosis, and sideroblastic anemia 1 1
                        myopathy, lactic acidosis, and sideroblastic anemia 2 2
                        myopathy, lactic acidosis, and sideroblastic anemia 3 1
paths to the root