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DOID:3322 - GM1 gangliosidosis
Disease Ontology 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.
Synonyms: beta-Galactosidase deficiency, Beta-galactosidase deficiency, deficiency of beta-galactosidase, deficiency of beta-galactosidase (disorder), gangliosidosis GM1, GM1 gangliosidosis (disorder), GM>1< gangliosidosis (disorder), Landing syndrome
Xenbase Genes
:
glb1
| MONDO:0018149 - GM1 gangliosidosis |
| MIM:230500 - GM1-GANGLIOSIDOSIS, TYPE I; GM1G1 |
| MIM:230600 - GM1-GANGLIOSIDOSIS, TYPE II; GM1G2 |
| MIM:230650 - GM1-GANGLIOSIDOSIS, TYPE III; GM1G3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
gangliosidosis (is_a)