About   Help   FAQ
Disease Ontology Browser
systemic primary carnitine deficiency disease (DOID:14365)
Alliance: disease page
Synonyms: carnitine transporter deficiency; carnitine uptake defect; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency; renal carnitine transport defect
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory