Sandhoff disease
A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
MONDO:0005328
eye disorder
is_a
MONDO:0017720
GM2 gangliosidosis
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0020143
cerebral lipidosis with dementia
is_a
GM2 gangliosidosis 0 variant
exact
GM2 gangliosidosis, 0 variant
exact
Hexosaminidases A and B deficiency
exact
Sandhoff Jatzkewitz disease
exact
Sandhoff disease
exact