loading...| Preferred Name |
GM1 gangliosidosis |
|
| Synonyms |
deficiency of beta-galactosidase gangliosidosis GM1 |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3322 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MESH:D016537 SNOMEDCT_US_2023_03_01:32917001 ICD10CM:E75.19 UMLS_CUI:C0085131 GARD:10891 NCI:C84739 |
|
| 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. |
|
| has exact synonym |
deficiency of beta-galactosidase Beta-galactosidase deficiency gangliosidosis GM1 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3322 |
|
| in_subset | ||
| label |
GM1 gangliosidosis |
|
| notation |
DOID:3322 |
|
| prefLabel |
GM1 gangliosidosis |
|
| subClassOf |