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.
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
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
ClinVar Annotator: match by term: Carnitine deficiency ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL
ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced ClinVar Annotator: match by term: CPT2 DEFICIENCY, LATE-ONSET | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
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