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DO Term : GM1 gangliosidosis [DOID:3322] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:D016537,
  • NCI:C84739,
  • deficiency of beta-galactosidase,
  • Beta-galactosidase deficiency,
  • ICD10CM:E75.19,
  • UMLS_CUI:C0085131,
  • gangliosidosis GM1,
  • SNOMEDCT_US_2023_03_01:32917001,
  • GARD:10891
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents