GM1 gangliosidosis (DOID:3322)
Alliance: disease page
Synonyms: Beta-galactosidase deficiency; deficiency of beta-galactosidase; gangliosidosis GM1
Alt IDs: ICD10CM:E75.19, MESH:D016537, NCI:C84739, UMLS_CUI:C0085131
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.