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Ontology Browser

Term:
Smith-Lemli-Opitz Syndrome pathway (PW:0001650)
Annotations: Rat: (22) Mouse: (22) Human: (22) Chinchilla: (21) Bonobo: (22) Dog: (21) Squirrel: (21) Pig: (22)
Parent Terms Term With Siblings Child Terms
apparent mineralocorticoid excess syndrome pathway  
carnitine palmitoyltransferase I deficiency pathway  
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis pathway  
cholesterol ester storage disease pathway +   
congenital bile acid synthesis defect pathway  
desmosterolosis pathway  
familial hypercholanemia 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  
An autosomal recessive disorder due to altered cholesterol metabolism.
sphingolipidosis pathway +   
trifunctional protein deficiency pathway  
very long-chain acyl-CoA dehydrogenase deficiency pathway  

Synonyms
Exact Synonyms: Rutledge lethal multiple congenital anomaly syndrome pathway ;   Smith-Opitz-Inborn syndrome pathway
Related Synonyms: SMP:00389
Definition Sources: MeSH:D019082

paths to the root