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Ontology Browser

Term:
cerebrotendinous xanthomatosis pathway (PW:0001475)
Annotations: Rat: (17) Mouse: (17) Human: (17) Chinchilla: (16) Bonobo: (17) Dog: (16) Squirrel: (15) Pig: (16)
Parent Terms Term With Siblings Child Terms
carnitine palmitoyltransferase I deficiency pathway  
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis pathway  
The cerebrotendinous type of xanthomatosis is caused by mutation in the CYP27A1 gene - a sterol hydrolase involved in the oxidation of side chain sterol intermediates. It affects many tissues, predominantly the brain and lungs.
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
Exact Synonyms: cerebrotendinous xanthomatosis disease pathway
Related Synonyms: CTX disease pathway ;   SMP:00315
Definition Sources: MeSH:D019294

paths to the root