loading...| Preferred Name | Tay-Sachs Disease [Disease/Finding] | |
| Synonyms |
Sphingolipidosis, Tay-Sachs GM2-Gangliosidosis, Type I Deficiency Disease Hexosaminidase A Gangliosidosis GM2, Type I GM2 Gangliosidosis, Type I GM2 Gangliosidosis, Type 1 Tay-Sachs Disease, B Variant Tay-Sachs Disease GM2 Gangliosidosis, B Variant Gangliosidosis GM2, B Variant B Variant GM2 Gangliosidosis B Variant GM2-Gangliosidosis Hexosaminidase A Deficiency Disease Gangliosidosis G(M2), Type I G(M2) Gangliosidosis, Type I Gangliosidosis GM2 , Type 1 |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002901 |
|
| altLabel |
Sphingolipidosis, Tay-Sachs GM2-Gangliosidosis, Type I Deficiency Disease Hexosaminidase A Gangliosidosis GM2, Type I GM2 Gangliosidosis, Type I GM2 Gangliosidosis, Type 1 Tay-Sachs Disease, B Variant Tay-Sachs Disease GM2 Gangliosidosis, B Variant Gangliosidosis GM2, B Variant B Variant GM2 Gangliosidosis B Variant GM2-Gangliosidosis Hexosaminidase A Deficiency Disease Gangliosidosis G(M2), Type I G(M2) Gangliosidosis, Type I Gangliosidosis GM2 , Type 1 |
|
| cui |
C0039373 |
|
| MESH DEFINITION |
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. |
|
| MESH DUI |
D013661 |
|
| MeSH name |
Tay-Sachs Disease |
|
| MESH UI |
M0021080 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002901 |
|
| NUI |
N0000002901 |
|
| prefLabel |
Tay-Sachs Disease [Disease/Finding] |
|
| SNOMED CID |
111385000 |
|
| tui |
T047 |
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| subClassOf |