"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."@en . "disease_ontology"^^ . . _:vb50951794 . _:vb50951794 . . . "Tay-Sachs disease"^^ . "OMIM mapping confirmed by DO. [SN]."^^ . "GM2 gangliosidosis, type 1"@en . "GARD:7737"^^ . "DOID:3320"^^ . _:vb50951794 . _:vb50951794 . "SNOMEDCT_US_2021_09_01:111385000"^^ . "UMLS_CUI:C0039373"^^ . _:vb50951794 . "ICD10CM:E75.02"^^ . "hexosaminidase A deficiency"@en . . "MESH:D013661"^^ . "OMIM:272800"^^ . "NCI:C85184"^^ .