Gangliosidosis, Gm1
Disease ID: disease_node_8773
Connections displayed (default: 10).
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| Dbxref | GARD:10891, ICD10CM:E75.19, MESH:D016537, NCI:C84739, SNOMEDCT_US_2023_03_01:32917001, UMLS_CUI:C0085131 |
|---|---|
| Subclassof | DOID_2368 |
| Data Source | DOID, MESH |
| Synonyms | Beta-galactosidase deficiency, deficiency of beta-galactosidase, gangliosidosis GM1 |
| Mesh Id | D016537 |
| Mesh Label | Gangliosidosis, GM1 |
| Mesh Subclassof | D005733 |
| Doid Label | GM1 gangliosidosis |
| Doid Description | A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_8773 |
| Doid Id | DOID_3322 |
| Label | Gangliosidosis, Gm1 |
- Incoming r'ship
SUBCLASS_OFto/from Gm1 Gangliosidosis Type 1(ID:disease_node_20488) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Gm1 Gangliosidosis Type 3(ID:disease_node_20490) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Gangliosidoses(ID:disease_node_3377) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Gm1 Gangliosidosis Type 2(ID:disease_node_20489) (Disease)