| Metadata | |
|---|---|
| ID | 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 |
SNOMEDCT_US_2023_03_01:23849003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Sandhoff Jatzkewitz disease [EXACT] |
| Parent Relationships |
is_a GM2 gangliosidosis |