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FNS-Harmony
Last uploaded:
November 2, 2023
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| Id | http://purl.obolibrary.org/obo/DOID_3322
http://purl.obolibrary.org/obo/DOID_3322
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|---|---|
| Preferred Name | GM1 gangliosidosis |
| 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.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
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| label |
GM1 gangliosidosis
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| prefLabel |
GM1 gangliosidosis
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| prefixIRI |
DOID:3322
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| subClassOf | |
| imported from | |
| type |
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