OBO ID: DOID:3323
Term Name: Sandhoff disease Search Ontology:
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:
Ontology: Human Disease   ( DOID:3323 )
Relationships
is a type of:
OTHER Sandhoff disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HEXB Sandhoff disease, infantile, juvenile, and adult forms 268800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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