Carnitine palmitoyltransferase II

Preferred Label : Carnitine palmitoyltransferase II;

Symbol : CPT2;

CISMeF acronym : CPT2;

Type : Gene;

Alternative titles and symbols : Cpt II;

Ensembl ID : ENSG00000157184;

Prefixed ID : *600650;

Details

Origin ID

600650;

UMLS CUI

C1413690;

Automatic exact mappings (from CISMeF team)
- CPT2 gene [LOINC component]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
- carnitine O-Palmitoyltransferase [MeSH Descriptor]
- carnitine O-palmitoyltransferase activity [GO term]
- carnitine palmitoyltransferase 2 [ORDO Gene]
- carnitine palmitoyltransferase 2 [HGNC gene]
HGNC gene
- carnitine palmitoyltransferase 2 [HGNC gene]
NCIt concept(s)
- CPT2 Gene [NCIt concept]
- CPT2 wt Allele [NCIt concept]
- Carnitine O-Palmitoyltransferase 2, Mitochondrial [NCIt concept]
ORDO concept(s)
- carnitine palmitoyltransferase 2 [ORDO Gene]
Phenotypes related
- Carnitine palmitoyltransferase II deficiency, infantile [OMIM Phenotype]
- Carnitine palmitoyltransferase II deficiency, lethal neonatal [OMIM Phenotype]
- Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [OMIM Phenotype]
- Encephalopathy, acute, infection-induced, susceptibility to, 4 [OMIM Phenotype]
See also inter- (CISMeF)
- Carnitine palmitoyltransferase II (substance) [SNOMED CT concept]
- carnitine palmitoyltransferase II [MeSH concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CPT2 gene [LOINC component]
- carnitine palmitoyltransferase 2 [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients