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
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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 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        mitochondrial metabolism disease 329
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            lipid metabolism disorder 721
              carnitine palmitoyltransferase II deficiency 2
                Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
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