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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
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal OMIM
ClinVar
PMID:736528 PMID:835844 PMID:2647738 PMID:2762996 PMID:7711730 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        mitochondrial metabolism disease 442
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            lipid metabolism disorder 1161
              carnitine palmitoyltransferase II deficiency 3
                Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
paths to the root