Term Name: | GM1 gangliosidosis |
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Synonyms: | Beta-galactosidase deficiency, deficiency of beta-galactosidase, gangliosidosis GM1 |
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. |
Ontology: | Human Disease [DOID:3322] ( DOID:3322 ) |