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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 3
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Accession:DOID:0111184 term browser browse the term
Definition:A severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay.
Synonyms:exact_synonym: MLASA3;   mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3
 primary_id: OMIM:500011
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      MELAS syndrome 17
        myopathy, lactic acidosis, and sideroblastic anemia 4
          myopathy, lactic acidosis, and sideroblastic anemia 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 51
                        MELAS syndrome 17
                          myopathy, lactic acidosis, and sideroblastic anemia 4
                            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.