Sandhoff Disease
Disease ID: disease_node_6736
Connections displayed (default: 10).
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| Dbxref | GARD:7604, ICD10CM:E75.01, MESH:D012497, MIM:268800, NCI:C85052, SNOMEDCT_US_2023_03_01:23849003, UMLS_CUI:C0036161 |
|---|---|
| Subclassof | DOID_3321 |
| Data Source | DOID, MESH |
| Synonyms | Sandhoff Jatzkewitz disease |
| Mesh Id | D012497 |
| Mesh Label | Sandhoff Disease |
| Mesh Subclassof | D020143 |
| Doid Label | Sandhoff disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_6736 |
| Doid Id | DOID_3323 |
| Label | Sandhoff Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Gangliosidoses, Gm2(ID:disease_node_10086) (Disease)