Search Ontology:
Human Disease

Sandhoff disease

Term ID
DOID:3323
Synonyms
  • Sandhoff Jatzkewitz 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. https://ghr.nlm.nih.gov/condition/sandhoff-disease
References
  • GARD:7604
  • ICD10CM:E75.01
  • MESH:D012497
  • MIM:268800
  • NCI:C85052
  • SNOMEDCT_US_2023_03_01:23849003
  • UMLS_CUI:C0036161
Ontology
Human Disease   ( DOID:3323 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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