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ONTOLOGY REPORT - ANNOTATIONS


Term:carnitine palmitoyltransferase II deficiency
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Accession:DOID:0060235 term browser browse the term
Definition:A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)
Synonyms:exact_synonym: CPT II deficiency;   CPT-II;   CPT2 deficiency;   carnitine palmitoyl transferase 2 deficiency;   carnitine palmitoyltransferase 2 deficiency;   carnitine palmitoyltransferase deficiency type 2;   infantile carnitine palmitoyltransferase II deficiency;   lethal neonatal carnitine palmitoyltransferase II deficiency;   muscle form of carnitine palmitoyltransferase deficiency
 primary_id: MESH:C535589
 alt_id: RDO:0000806
 xref: NCI:C114766;   ORDO:157
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carnitine palmitoyltransferase II deficiency 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:8554872
RGD:13592920
G Czib CXXC motif containing zinc binding protein JBrowse link 5 127,489,349 127,498,734 RGD:8554872
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
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 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
Late-Onset Carnitine Palmitoyltransferase II Deficiency 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 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          carnitine palmitoyltransferase II deficiency 2
            Carnitine Palmitoyltransferase II Deficiency, Infantile 1
            Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
            Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lipid metabolism disorder 741
              carnitine palmitoyltransferase II deficiency 2
                Carnitine Palmitoyltransferase II Deficiency, Infantile 1
                Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
                Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.