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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 with Lactic Acidosis, Hereditary
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Accession:DOID:9006323 term browser browse the term
Definition:Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype. yopathy with lactic acidosis, also known as Swedish type myopathy with exercise intolerance, is caused by homozygous or compound heterozygous mutation in the ISCU gene, encoding the iron-sulfur cluster scaffold protein, on chromosome 12q24. (OMIM)
Synonyms:exact_synonym: HML;   Iron-Sulfur Cluster Deficiency Myopathy;   Myoglobinuria due to Abnormal Glycolysis;   Myopathy with Deficiency of ISCU;   Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme;   Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase;   Myopathy with Exercise Intolerance, Swedish Type
 primary_id: MESH:C564972;   OMIM:255125
 alt_id: RDO:0013750
For additional species annotation, visit the Alliance of Genome Resources.



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Myopathy with Lactic Acidosis, Hereditary term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iscu iron-sulfur cluster assembly enzyme ISO ClinVar Annotator: match by OMIM:255125
ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary
OMIM
ClinVar
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 More... NCBI chr12:42,852,305...42,858,150
Ensembl chr12:42,852,305...42,858,150
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        muscular disease 1280
          Myopathy with Lactic Acidosis, Hereditary 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        peripheral nervous system disease 2557
          neuropathy 2354
            neuromuscular disease 1875
              muscular disease 1280
                Myopathy with Lactic Acidosis, Hereditary 1
paths to the root