Summary Literature (0)

DOID:14365 - systemic primary carnitine deficiency disease

Disease Ontology Definition:An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

Synonyms: carnitine transporter deficiency, carnitine uptake defect, deficiency of plasma-membrane carnitine transporter, primary carnitine deficiency, renal carnitine transport defect (disorder),

Echinobase Genes :


OMIM:

MIM:212140 - carnitine deficiency, systemic primary; cdsp

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee