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ONTOLOGY REPORT - ANNOTATIONS


Term:Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
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Accession:DOID:9001501 term browser browse the term
Synonyms:exact_synonym: CPT II Deficiency, Lethal Neonatal;   CPT2 Deficiency, Lethal Neonatal;   Carnitine Palmitoyltransferase II Deficiency, Antenatal;   Carnitine Palmitoyltransferase II Deficiency, Neonatal
 primary_id: MESH:C563463;   RDO:0012711
 alt_id: OMIM:608836
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 310
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          inherited metabolic disorder 1887
            lipid metabolism disorder 744
              carnitine palmitoyltransferase II deficiency 2
                Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 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.