FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Tay-Sachs disease ID (Ontology) DOID:3320 (Human 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.
Also Known As "GM2 gangliosidosis, type 1" ; "hexosaminidase A deficiency"
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 Genes
 Tay-Sachs disease       3
 for disease ribbon | Tay-Sachs disease       3
 model of | Tay-Sachs disease       3
Spanning Tree (Parents/Children)
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  gangliosidosis
   |__GM2 gangliosidosis
       |__Tay-Sachs disease  3 rec.
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Is a GM2 gangliosidosis
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Synonyms
  • "GM2 gangliosidosis, type 1" EXACT
    "hexosaminidase A deficiency" EXACT
Secondary IDs
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GARD:7737
ICD10CM:E75.02
MESH:D013661
MIM:272800
NCI:C85184
SNOMEDCT_US_2023_03_01:111385000
UMLS_CUI:C0039373