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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:Mitochondrial Myopathy with Lactic Acidosis
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Accession:DOID:9002494 term browser browse the term
Synonyms:exact_synonym: MMLA
 narrow_synonym: EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
 primary_id: MESH:C537476;   RDO:0003321
 alt_id: OMIM:251950
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis ClinVar
OMIM
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 NCBI chr 6:64,224,870...64,288,465
Ensembl chr 6:64,224,861...64,286,785
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Pathological Conditions, Signs and Symptoms 8840
      Pathologic Processes 6201
        Growth Disorders 324
          Mitochondrial Myopathy with Lactic Acidosis 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  communication disorder 203
                    agnosia 24
                      cortical deafness 5
                        Mitochondrial Myopathy with Lactic Acidosis 1
paths to the root