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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 2
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Accession:DOID:0111186 term browser browse the term
Definition:A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. (DO)
Synonyms:exact_synonym: MLASA2
 primary_id: OMIM:613561


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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:25741868 PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		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 More... NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      myelodysplastic syndrome 239
        Refractory Anemia 32
          sideroblastic anemia 21
            myopathy, lactic acidosis, and sideroblastic anemia 4
              myopathy, lactic acidosis, and sideroblastic anemia 2 2
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Hemic and Lymphatic Diseases 3680
        hematopoietic system disease 3187
          Hematologic Neoplasms 988
            Bone Marrow Neoplasms 476
              bone marrow cancer 476
                myelodysplastic syndrome 239
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      myopathy, lactic acidosis, and sideroblastic anemia 4
                        myopathy, lactic acidosis, and sideroblastic anemia 2 2
paths to the root