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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, 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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        mitochondrial metabolism disease 392
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            lipid metabolism disorder 996
              carnitine palmitoyltransferase II deficiency 2
                Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
paths to the root