Preferred Name |
Tay-Sachs disease |
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Synonyms |
disease, Tay-Sachs Tay-Sachs disease Hex A pseudodeficiency hexosaminidase A deficiency GM2 gangliosidosis, B, B1 variant GM2-gangliosidosis, several forms B variant GM2 gangliosidosis GM2-gangliosidosis, variant B1 Tay-Sachs disease, variant B1 sphingolipidosis, Tay-Sachs Tay-Sachs disease, juvenile GM2-gangliosidosis, type 1 TSD TAY-Sachs disease B variant GM2-gangliosidosis hexa deficiency Tay-Sachs disease, pseudo-Ab variant hexosaminidase alpha-subunit deficiency (variant B) hexosaminidase a deficiency gangliosidosis GM2, type 1 GM2 gangliosidosis, type 1 GM2-gangliosidosis, adult chronic type hexosaminidase a deficiency, adult type |
|
Definitions |
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0010100 |
|
has_exact_synonym |
disease, Tay-Sachs Tay-Sachs disease Hex A pseudodeficiency hexosaminidase A deficiency GM2 gangliosidosis, B, B1 variant GM2-gangliosidosis, several forms |
|
has_related_synonym |
B variant GM2 gangliosidosis GM2-gangliosidosis, variant B1 Tay-Sachs disease, variant B1 sphingolipidosis, Tay-Sachs Tay-Sachs disease, juvenile GM2-gangliosidosis, type 1 TSD TAY-Sachs disease B variant GM2-gangliosidosis hexa deficiency Tay-Sachs disease, pseudo-Ab variant hexosaminidase alpha-subunit deficiency (variant B) hexosaminidase a deficiency gangliosidosis GM2, type 1 GM2 gangliosidosis, type 1 GM2-gangliosidosis, adult chronic type hexosaminidase a deficiency, adult type |
|
IAO_0000233 | ||
label |
Tay-Sachs disease |
|
prefixIRI |
MONDO:0010100 |
|
prefLabel |
Tay-Sachs disease |
|
seeAlso |
https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease |
|
textual definition |
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0017720 |