FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Sandhoff disease ID (Ontology) DOID:3323 (Human Disease)
Definition A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
Also Known As "Sandhoff Jatzkewitz disease"
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 Genes
 Sandhoff disease       3
 for disease ribbon | Sandhoff disease       3
 model of | Sandhoff disease       3
Spanning Tree (Parents/Children)
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  gangliosidosis
   |__GM2 gangliosidosis
       |__Sandhoff disease  3 rec.
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Is a GM2 gangliosidosis
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Synonyms
  • "Sandhoff Jatzkewitz disease" EXACT
Secondary IDs
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GARD:7604
ICD10CM:E75.01
MESH:D012497
MIM:268800
NCI:C85052
SNOMEDCT_US_2023_03_01:23849003
UMLS_CUI:C0036161