Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
carnitine-acylcarnitine translocase deficiency (PW:0002506)
Annotations: Rat: (10) Mouse: (10) Human: (10) Chinchilla: (10) Bonobo: (10) Dog: (10) Squirrel: (10) Pig: (10)
Parent Terms Term With Siblings Child Terms
carnitine palmitoyltransferase I deficiency pathway  
carnitine-acylcarnitine translocase deficiency  
A rare autosomal recessive condition resulting from alteration in long-fatty acid oxidation and due to defects in the SLC25A20 gene.
cerebrotendinous xanthomatosis pathway  
cholesterol ester storage disease pathway +   
desmosterolosis pathway  
familial lipoprotein lipase deficiency pathway  
medium chain acyl-CoA dehydrogenase deficiency pathway  
short-chain acyl-CoA dehydrogenase deficiency pathway  
Smith-Lemli-Opitz Syndrome pathway  
sphingolipidosis pathway +   
trifunctional protein deficiency pathway  
very long-chain acyl-CoA dehydrogenase deficiency pathway  

Synonyms
Related Synonyms: SMP:00517
Definition Sources: OMIM:212138

paths to the root