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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:Carnitine Palmitoyltransferase II Deficiency, Infantile
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Accession:DOID:9007668 term browser browse the term
Synonyms:exact_synonym: carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia;   hepatic CPT II deficiency;   hepatocardiomuscular carnitine palmitoyltransferase II deficiency;   infantile CPT2 deficiency
 primary_id: MESH:C563462
 alt_id: OMIM:600649;   RDO:0012710


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Carnitine Palmitoyltransferase II Deficiency, Infantile 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: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6819
        liver disease 2957
          Carnitine Palmitoyltransferase II Deficiency, Infantile 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                hypoglycemia 95
                  Carnitine Palmitoyltransferase II Deficiency, Infantile 1
paths to the root