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BRENDA support

Ontology explorer

BTO (BRENDA Tissue Ontology)
Download as: OBO OWL
Version 2021-10-23
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Details for Tay-Sachs disease specific cell type
Tay-Sachs disease specific cell type
BTO (BRENDA Tissue Ontology) ID
BTO:0001399
BTO:0001399 is linked to 1 enzymes:
Definition
Tay-Sachs disease is a lysosomal disease (lipidosis) in which hexosaminidase A, an enzyme that degrades ganglioside GM2, is absent. A hereditary disease that affects young children almost exclusively of eastern European Jewish descent, in which an enzyme deficiency leads to the accumulation of gangliosides in the brain and nerve tissue, resulting in mental retardation, convulsions, blindness, and, ultimately, death
Synonyms
1. TSD cell
References
1. The American Heritage Dictionary of the English Language: Fourth Edition. 2000.
2. The Dictionary of Cell and Molecular Biology: Third Edition
Legend
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