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Ontology Browser

Term:
Tay-Sachs disease pathway (PW:0001631)
Annotations: Rat: (17) Mouse: (17) Human: (17) Chinchilla: (17) Bonobo: (17) Dog: (16) Squirrel: (16) Pig: (17)
Parent Terms Term With Siblings Child Terms
beta-ureidopropionase deficiency pathway  
glutaric aciduria type I pathway  
inborn error of brain metabolic pathway +   
Krabbe disease pathway  
sialic acid storage disease pathway +   
sphingolipidosis pathway +   
Tay-Sachs disease pathway  
There are several forms of Tay-Sachs disease resulting from mutations in the lysosomal hexosaminidase A enzyme. The accumulation of gangliosides in nerve cells leads to loss of mental and physical abilities, neurodegeneration and eventually death.
Zellweger syndrome pathway  

Synonyms
Exact Synonyms: hexosaminidase A deficiency pathway
Related Synonyms: SMP:00390
Definition Sources: PMID:9090523

paths to the root