Term Name:	Tay-Sachs disease
Synonyms:	GM2 gangliosidosis, type 1, hexosaminidase A deficiency
Definition:	A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
Ontology:	Human Disease [DOID:3320]   ( DOID:3320 )