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Disease Ontology Browser
Sandhoff disease (DOID:3323)
Alliance: disease page
Synonyms: Sandhoff Jatzkewitz disease
Alt IDs: OMIM:268800, ICD10CM:E75.01, MESH:D012497, NCI:C85052, UMLS_CUI:C0036161
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.

Disease References using Mouse Models (12)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory