1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:3322 | GM1 gangliosidosis | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:3211 | lysosomal storage disease | An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
