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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Id | http://purl.obolibrary.org/obo/MONDO_0010100
http://purl.obolibrary.org/obo/MONDO_0010100
|
|---|---|
| Preferred Name | Tay-Sachs disease |
| Definitions |
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.
|
| Synonyms |
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
disease, Tay-Sachs
Tay-Sachs disease
Hex A pseudodeficiency
hexosaminidase A deficiency
GM2 gangliosidosis, B, B1 variant
GM2-gangliosidosis, several forms
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. |
|---|---|
| altLabel |
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
disease, Tay-Sachs
Tay-Sachs disease
Hex A pseudodeficiency
hexosaminidase A deficiency
GM2 gangliosidosis, B, B1 variant
GM2-gangliosidosis, several forms
See more
See less
|
| label |
Tay-Sachs disease
|
| prefLabel |
Tay-Sachs disease
|
| IAO_0000233 | |
| 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
See more
See less
|
| prefixIRI |
MONDO:0010100
|
| seeAlso | |
| textual definition |
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.
|
| subClassOf | |
| type | |
| has_exact_synonym |
disease, Tay-Sachs
Tay-Sachs disease
Hex A pseudodeficiency
hexosaminidase A deficiency
GM2 gangliosidosis, B, B1 variant
GM2-gangliosidosis, several forms
See more
See less
|
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