Search Ontology:
Human Disease

Tay-Sachs disease

Term ID
DOID:3320
Synonyms
  • GM2 gangliosidosis, type 1
  • hexosaminidase A deficiency
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. (3)
References
  • GARD:7737
  • ICD10CM:E75.02
  • MESH:D013661
  • MIM:272800
  • NCI:C85184
  • SNOMEDCT_US_2023_03_01:111385000
  • UMLS_CUI:C0039373
Ontology
Human Disease   ( DOID:3320 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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