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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:Myopathic Carnitine Deficiency
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Accession:DOID:9005137 term browser browse the term
Synonyms:primary_id: MESH:C536100
 alt_id: OMIM:212160
 xref: GARD:6616


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14861
      musculoskeletal system disease 7667
        muscular disease 2106
          Myopathic Carnitine Deficiency 0
Path 2
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14861
      nervous system disease 12945
        peripheral nervous system disease 4013
          neuropathy 3824
            neuromuscular disease 3009
              muscular disease 2106
                Myopathic Carnitine Deficiency 0
paths to the root