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Metadata
DOID DOID:3322
Name GM1 gangliosidosis
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
Xrefs

CSP2005:1849-8633

GARD:10891

ICD10CM:E75.19

MESH:D016537

NCI:C84739

SNOMEDCT_US_2018_03_01:32917001

UMLS_CUI:C0085131

Subsets

NCIthesaurus

Synonyms

Beta-galactosidase deficiency [EXACT]

deficiency of beta-galactosidase [EXACT]

gangliosidosis GM1 [EXACT]

Relationships

is_a gangliosidosis

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