| Metadata | |
|---|---|
| ID | DOID:3322 |
| Name | GM1 gangliosidosis |
| Definition | 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. https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis |
| Xrefs |
SNOMEDCT_US_2023_03_01:32917001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Beta-galactosidase deficiency [EXACT] deficiency of beta-galactosidase [EXACT] gangliosidosis GM1 [EXACT] |
| Parent Relationships |
is_a gangliosidosis |