loading...| Preferred Name | Tay-Sachs Disease | |
| Synonyms |
Deficiency, Hexosaminidase alpha-Subunit (Variant B) Tay-Sachs Sphingolipidosis Sphingolipidosis, Tay-Sachs GM2-Gangliosidosis, Type I Deficiency Disease Hexosaminidase A Gangliosidosis GM2, Type I GM2 Gangliosidosis, Type I GM2 Gangliosidosis, Type 1 Type I GM2-Gangliosidosis HexA Deficiency Tay Sachs Disease Hexosaminidase alpha-Subunit Deficiency (Variant B) Hexosaminidase alpha Subunit Deficiency (Variant B) Deficiency, Hexosaminidase A GM2-Gangliosidosis, B Variant Tay-Sachs Disease, B Variant Amaurotic Familial Idiocy Tay Sachs Disease, B Variant GM2 Gangliosidosis, B Variant Amaurotic Idiocy, Familial Familial Amaurotic Idiocy Hexosaminidase A Deficiency 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 Sphingolipidosis, Tay Sachs Gangliosidosis GM2 , Type 1 B Variant GM2-Gangliosidoses |
|
| Definitions |
An outdated term for Tay-Sachs disease. 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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D013661 |
|
| altLabel |
Deficiency, Hexosaminidase alpha-Subunit (Variant B) Tay-Sachs Sphingolipidosis Sphingolipidosis, Tay-Sachs GM2-Gangliosidosis, Type I Deficiency Disease Hexosaminidase A Gangliosidosis GM2, Type I GM2 Gangliosidosis, Type I GM2 Gangliosidosis, Type 1 Type I GM2-Gangliosidosis HexA Deficiency Tay Sachs Disease Hexosaminidase alpha-Subunit Deficiency (Variant B) Hexosaminidase alpha Subunit Deficiency (Variant B) Deficiency, Hexosaminidase A GM2-Gangliosidosis, B Variant Tay-Sachs Disease, B Variant Amaurotic Familial Idiocy Tay Sachs Disease, B Variant GM2 Gangliosidosis, B Variant Amaurotic Idiocy, Familial Familial Amaurotic Idiocy Hexosaminidase A Deficiency 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 Sphingolipidosis, Tay Sachs Gangliosidosis GM2 , Type 1 B Variant GM2-Gangliosidoses |
|
| AN |
TAY-SACHS DISEASE, AB VARIANT is also available |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0039373 C0282220 C1848922 |
|
| DC |
1 |
|
| definition |
An outdated term for Tay-Sachs disease. 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. |
|
| DX |
19790101 |
|
| FX |
D001619 |
|
| HN |
1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D001619 |
|
| Machine permutation |
1979; see AMAUROTIC FAMILIAL IDIOCY 1963-1978; for AMAUROTIC FAMILIAL IDIOCY see LIPOIDOSIS 1985-2006, see AMAUROTIC FAMILIAL IDIOCY 1963-1978 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567601 http://purl.bioontology.org/ontology/MESH/C564782 http://purl.bioontology.org/ontology/MESH/C564783 http://purl.bioontology.org/ontology/MESH/C564784 |
|
| MDA |
19780522 |
|
| MMR |
20210701 |
|
| MN |
C18.452.648.595.554.825.300.300.840 C18.452.648.189.435.825.300.300.500 C10.228.140.163.100.435.825.300.300.500 C18.452.132.100.435.825.300.300.500 C16.320.565.189.435.825.300.300.500 C16.320.565.595.554.825.300.300.840 C18.452.648.398.641.803.350.300.850 C18.452.584.563.641.803.350.300.850 C16.320.565.398.641.803.350.300.850 |
|
| notation |
D013661 |
|
| prefLabel |
Tay-Sachs Disease |
|
| TERMUI |
T370736 T825153 T024039 T370737 T646887 T752850 T752848 T752849 T752847 T040130 T752851 T040131 T825154 T646888 T370738 T040128 T752846 T040129 T843877 T646886 T649281 |
|
| TH |
OMIM (2013) NLM (2000) BIOETHICS (1989) NLM (1992) UNK (19XX) NLM (2010) GHR (2014) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |