OBO ID: DOID:3320
Term Name: Tay-Sachs disease Search Ontology:
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:
Ontology: Human Disease   ( DOID:3320 )
Relationships
is a type of:
OTHER Tay-Sachs disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HEXA [Hex A pseudodeficiency] 272800
GM2-gangliosidosis, several forms 272800
Tay-Sachs disease 272800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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