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systemic primary carnitine deficiency disease (DOID:14365)
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Synonyms: carnitine transporter deficiency; carnitine uptake defect; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency; renal carnitine transport defect (disorder)
Alt IDs: OMIM:212140, DOID:1668, ICD10CM:E71.41, ICD10CM:E71.42, ICD9CM:277.81, ICD9CM:277.82, MESH:C536778, NCI:C98864, UMLS_CUI:C0342788, UMLS_CUI:C1260388
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.

Disease References using Mouse Models (8)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory