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Metadata
ID DOID:3320
Name Tay-Sachs disease
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.
https://medlineplus.gov/genetics/condition/tay-sachs-disease/, https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease, https://www.ncbi.nlm.nih.gov/books/NBK1218/
Xrefs

GARD:7737

ICD10CM:E75.02

MESH:D013661

NCI:C85184

OMIM:272800

SNOMEDCT_US_2023_03_01:111385000

UMLS_CUI:C0039373

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

GM2 gangliosidosis, type 1 [EXACT]

hexosaminidase A deficiency [EXACT]

Parent Relationships

is_a GM2 gangliosidosis

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