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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
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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
For additional species annotation, visit the Alliance of Genome Resources.



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carnitine palmitoyltransferase II deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
OMIM:255110 | OMIM:600649 | OMIM:608836
ClinVar
MouseDO
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Czib CXXC motif containing zinc binding protein ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar NCBI chr 5:122,648,333...122,657,767
Ensembl chr 5:122,648,411...122,656,910
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile 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 OMIM:600649
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
OMIM
ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
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, lethal neonatal
ClinVar Annotator: match by OMIM:608836
OMIM
ClinVar
PMID:736528 PMID:835844 PMID:2647738 PMID:2762996 PMID:8358442 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
Late-Onset Carnitine Palmitoyltransferase II Deficiency 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, myopathic, stress-induced
ClinVar Annotator: match by OMIM:255110
OMIM
ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        lipid metabolism disorder 1029
          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 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          inherited metabolic disorder 2663
            lipid metabolism disorder 1029
              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