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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



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Late-Onset Carnitine Palmitoyltransferase II Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LATE-ONSET | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
CTD
OMIM
ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      musculoskeletal system disease 8236
        muscular disease 2136
          Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21142
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          inherited metabolic disorder 6205
            lipid metabolism disorder 1727
              carnitine palmitoyltransferase II deficiency 3
                Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
paths to the root