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Metadata
DOID DOID:3323
Name Sandhoff 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
Xrefs

CSP2005:1849-8747

GARD:7604

ICD10CM:E75.01

MESH:D012497

NCI:C85052

OMIM:268800

SNOMEDCT_US_2018_03_01:23849003

UMLS_CUI:C0036161

Subsets

NCIthesaurus

Synonyms

Sandhoff Jatzkewitz disease [EXACT]

Relationships

is_a GM2 gangliosidosis

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