FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term GM1 gangliosidosis ID (Ontology) DOID:3322 (Human Disease)
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.
Also Known As "Beta-galactosidase deficiency" ; "deficiency of beta-galactosidase" ; "gangliosidosis GM1"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
sphingolipidosis_____________|
                             gangliosidosis
                              |__GM1 gangliosidosis  2 rec.
                                  |__GM1 gangliosidosis type 1 2 rec.
                                  |__GM1 gangliosidosis type 2 2 rec.
                                  |__GM1 gangliosidosis type 3 2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a gangliosidosis
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Beta-galactosidase deficiency" EXACT
    "deficiency of beta-galactosidase" EXACT
    "gangliosidosis GM1" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:10891
ICD10CM:E75.19
MESH:D016537
NCI:C84739
SNOMEDCT_US_2023_03_01:32917001
UMLS_CUI:C0085131