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Summary Literature (0)
DOID:3320 - Tay-Sachs disease

Disease Ontology 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.

Synonyms: disease, Tay-Sachs, Tay-Sachs disease (disorder), A GM2 gangliosidosis that is characterized the 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., GM2 gangliosidosis, type 1, hexosaminidase A deficiency

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010100 - Tay-Sachs disease

MIM:
MIM:272800 - TAY-SACHS DISEASE; TSD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): GM2 gangliosidosis (is_a)