OBO ID: DOID:3322
Term Name: GM1 gangliosidosis Search Ontology:
Synonyms:
  • Beta-galactosidase deficiency
  • deficiency of beta-galactosidase
  • gangliosidosis GM1
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. https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis
References:
  • GARD:10891
  • ICD10CM:E75.19
  • MESH:D016537
  • NCI:C84739
  • SNOMEDCT_US_2020_09_01:32917001
  • UMLS_CUI:C0085131
Ontology: Human Disease   (DOID:3322)
OTHER GM1 gangliosidosis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None