|
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, GM1 gangliosidosis (disorder), GM>1< gangliosidosis (disorder), Landing syndrome, beta-Galactosidase deficiency, deficiency of beta-galactosidase, deficiency of beta-galactosidase (disorder), gangliosidosis GM1,
Xenbase Genes
:
glb1
| MONDO:0018149 - GM1 gangliosidosis |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
gangliosidosis (is_a)