Term Name:	Sandhoff disease
Synonyms:	Sandhoff Jatzkewitz disease
Definition:	A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
Ontology:	Human Disease [DOID:3323]   ( DOID:3323 )