PropertyValue
?:definition
  • Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). [HPO:probinson, PMID:21937853]
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all