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Summary Literature (0)
DOID:3323 - Sandhoff disease

Disease Ontology 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.

Synonyms: Sandhoff Jatzkewitz disease

Xenbase Genes : hexb

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010006 - Sandhoff disease


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): GM2 gangliosidosis (is_a)