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Metadata
DOID DOID:3320
Name Tay-Sachs disease
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. [EXACT]

GM2 gangliosidosis, type 1 [EXACT]

hexosaminidase A deficiency [EXACT]

Xrefs

CSP2005:1849-8690

GARD:7737

ICD10CM:E75.02

MESH:D013661

MTHICD9_2006:330.1

NCI:C85184

OMIM:272800

UMLS_CUI:C0039373

Subsets

NCIthesaurus

Relationships

is_a GM2 gangliosidosis

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