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Ontology Browser

Parent Terms Term With Siblings Child Terms
carnitine palmitoyltransferase I deficiency pathway  
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis pathway  
cholesterol ester storage disease pathway +   
desmosterolosis pathway  
familial lipoprotein lipase deficiency pathway  
Krabbe disease pathway  
medium chain acyl-CoA dehydrogenase deficiency pathway  
short-chain acyl-CoA dehydrogenase deficiency pathway  
sialic acid storage disease pathway +   
Smith-Lemli-Opitz Syndrome pathway  
sphingolipidosis pathway +   
A group of inherited metabolic disorders resulting in abnormal accumulation of sphingolipids in the central nervous system and also visceral organs due to defects in their degradation pathway.
Tay-Sachs disease pathway  
trifunctional protein deficiency pathway  
very long-chain acyl-CoA dehydrogenase deficiency pathway  

Exact Synonyms: sphingolipidoses disease pathway
Definition Sources: MeSH:D013106

paths to the root