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Health_ontology
Last uploaded:
July 4, 2024
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| Preferred Name | GM1 gangliosidosis | |
| Synonyms |
deficiency of beta-galactosidase Beta-galactosidase deficiency gangliosidosis GM1 |
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| 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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_3322 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
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|
| alternative label |
deficiency of beta-galactosidase Beta-galactosidase deficiency gangliosidosis GM1
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| database_cross_reference |
MESH:D016537 SNOMEDCT_US_2023_03_01:32917001 ICD10CM:E75.19 UMLS_CUI:C0085131 GARD:10891 NCI:C84739
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|
| 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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|
| has exact synonym |
deficiency of beta-galactosidase Beta-galactosidase deficiency gangliosidosis GM1
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|
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:3322
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|
| in_subset | ||
| label |
GM1 gangliosidosis
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|
| notation |
DOID:3322
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|
| prefLabel |
GM1 gangliosidosis
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| subClassOf |
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