Tay-Sachs disease (DOID:3320)
Alliance: disease page
Synonyms: GM2 gangliosidosis, type 1; hexosaminidase A deficiency
Alt IDs: OMIM:272800, ICD10CM:E75.02, MESH:D013661, NCI:C85184, UMLS_CUI:C0039373
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.