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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:Late-Onset Carnitine Palmitoyltransferase II Deficiency
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Accession:DOID:9007623 term browser browse the term
Synonyms:exact_synonym: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED;   Carnitine Palmitoyltransferase II Deficiency, Adult-Onset;   Carnitine Palmitoyltransferase II Deficiency, Myopathic;   late-onset CPT2 deficiency;   myopathic CPT II deficiency
 primary_id: MESH:C563461
 alt_id: OMIM:255110;   RDO:0012709
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        muscular disease 1283
          Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            lipid metabolism disorder 1017
              carnitine palmitoyltransferase II deficiency 2
                Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
paths to the root