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


Disease Ontology Definition:n_a

Synonyms: 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, Tay-Sachs disease (disorder), disease, Tay-Sachs, hexosaminidase A deficiency

Referenced OMIM:
OMIM:272800 - TAY-SACHS DISEASE; TSD

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hexa

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): GM2 gangliosidosis (is_a)


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