FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

GM1 gangliosidosis

Synonyms
Definitions

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

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

GM1 gangliosidosis

prefixIRI

DOID:3322

prefLabel

GM1 gangliosidosis

subClassOf

http://purl.obolibrary.org/obo/DOID_2368

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