ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      endocrine system disease 4666
        liver disease 2268
          Carnitine Palmitoyltransferase II Deficiency, Infantile 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            lipid metabolism disorder 721
              carnitine palmitoyltransferase II deficiency 2
                Carnitine Palmitoyltransferase II Deficiency, Infantile 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.