loading...| Preferred Name |
Tay-Sachs disease specific cell type |
| Synonyms |
TSD cell |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/BTO_0001399 |
| 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. |
| disease causes dysfunction of | |
| has_obo_namespace |
BrendaTissueOBO |
| has_related_synonym |
TSD cell |
| id |
BTO:0001399 |
| label |
Tay-Sachs disease specific cell type |
| notation |
BTO:0001399 |
| prefLabel |
Tay-Sachs disease specific cell type |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||