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Tay-Sachs disease (Q560337)

From Wikidata

Human medical condition

hexosaminidase A deficiency
Tay-Sachs disease (disorder)
disease, Tay-Sachs
GM2 gangliosidosis, type 1
Hexosaminidase a Deficiency, Adult Type
Hexosaminidase alpha-subunit deficiency (variant B)
Gm2-Gangliosidosis, Variant B1
Gm2-Gangliosidosis, Adult Chronic Type
B variant GM2 gangliosidosis
Gm2-Gangliosidosis, Type 1
Hexa Deficiency
GM2 gangliosidosis, B, B1 variant
Sphingolipidosis, Tay-Sachs
TAY-SACHS DISEASE; TSD
TSD
Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Juvenile
Tay-Sachs Disease, Pseudo-Ab Variant
B Variant Gm2-Gangliosidosis
TAY-SACHS DISEASE
Gangliosidosis GM2 , type 1

Language	Label	Description	Also known as
default for all languages	No label defined
English	Tay-Sachs disease	Human medical condition	hexosaminidase A deficiency Tay-Sachs disease (disorder) disease, Tay-Sachs GM2 gangliosidosis, type 1 Hexosaminidase a Deficiency, Adult Type Hexosaminidase alpha-subunit deficiency (variant B) Gm2-Gangliosidosis, Variant B1 Gm2-Gangliosidosis, Adult Chronic Type B variant GM2 gangliosidosis Gm2-Gangliosidosis, Type 1 Hexa Deficiency GM2 gangliosidosis, B, B1 variant Sphingolipidosis, Tay-Sachs TAY-SACHS DISEASE; TSD TSD Tay-Sachs Disease, Variant B1 Tay-Sachs Disease, Juvenile Tay-Sachs Disease, Pseudo-Ab Variant B Variant Gm2-Gangliosidosis TAY-SACHS DISEASE Gangliosidosis GM2 , type 1

Statements

0 references

class of disease

0 references

lysosomal storage disease

0 references

GM2 gangliosidosis

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

Disease Ontology

30 November 2020

Disease Ontology ID

eye degenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

Tay-sachsUMich.jpg
288 × 276; 36 KB

1 reference

imported from Wikimedia project

Dutch Wikipedia

0 references

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discoverer or inventor

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health specialty

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0 references

medical genetics

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mode of inheritance

autosomal recessive

2 references

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder (English)

Online Mendelian Inheritance in Man

genetic association

5 references

UniProt protein ID

13 August 2019

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/1f7530b5-af31-40f9-ac18-a1b4d404285a--2020-05-27T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f7530b5-af31-40f9-ac18-a1b4d404285a-2020-05-27T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000213614/MONDO_0010100

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

T99

1 reference

imported from Wikimedia project

Spanish Wikipedia

http://purl.obolibrary.org/obo/DOID_3320

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:3320

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_845

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Commons category

Tay–Sachs disease

1 reference

imported from Wikimedia project

English Wikipedia

topic's main category

Category:Tay–Sachs disease

0 references

statement is subject of

history of Tay–Sachs disease

0 references

Identifiers

Bibliothèque nationale de France ID

subject named as

Maladie de Tay-Sachs

1 reference

Nuovo soggettario

https://thes.bncf.firenze.sbn.it/termine.php?id=58018

17 June 2021

987007563356005171

1 reference

National Library of Israel

Library of Congress authority ID

subject named as

Tay-Sachs disease

1 reference

Nuovo soggettario

https://thes.bncf.firenze.sbn.it/termine.php?id=58018

17 June 2021

MeSH descriptor ID

mapping relation type

subject named as

Tay-Sachs Disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

C10.228.140.163.100.435.825.300.300.500

0 references

C16.320.565.189.435.825.300.300.500

0 references

C16.320.565.398.641.803.350.300.850

0 references

C16.320.565.595.554.825.300.300.840

0 references

C18.452.132.100.435.825.300.300.500

0 references

C18.452.584.563.641.803.350.300.850

0 references

C18.452.648.189.435.825.300.300.500

0 references

C18.452.648.398.641.803.350.300.850

0 references

C18.452.648.595.554.825.300.300.840

0 references

1 reference

imported from Wikimedia project

English Wikipedia

PatientsLikeMe condition ID

0 references

0 references

Australian Educational Vocabulary ID

0 references

BNCF Thesaurus ID

1 reference

Nuovo soggettario

Disease Ontology ID

0 references

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

science/Tay-Sachs-disease

subject named as

Tay-Sachs disease

0 references

Encyclopædia Universalis ID

maladie-de-tay-sachs

0 references

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

2 references

Disease Ontology

28 February 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

Genetics Home Reference Conditions ID

tay-sachs-disease

1 reference

Wikimedia import URL

https://www.wikidata.org/w/index.php?title=Wikidata:Property_proposal/GHR_Conditions_ID&oldid=1036878764

Gran Enciclopèdia Catalana ID

malaltia-de-tay-sachs

0 references

Gran Enciclopèdia Catalana ID (former scheme)

0 references

2 references

Disease Ontology

28 February 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

ICD-11 ID (Foundation)

0 references

1 reference

imported from Wikimedia project

English Wikipedia

Interlingual Index ID

0 references

JSTOR topic ID (archived)

tay-sachs-disease

0 references

0 references

tay-sachs-sjukdom

0 references

NHS Health A to Z ID

tay-sachs-disease

0 references

0 references

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

Tay-Sachs-Disease

1 reference

http://www.patient.co.uk/patientplus/t.htm

1 reference

UK Parliament thesaurus ID

subject named as

Tay-Sachs disease

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

based on heuristic

inferred by common MeSH mappings on source and on Wikidata

25 May 2023

UniProt disease ID

0 references

Ziekte_van_Tay-Sachs

0 references

WikiProjectMed ID

Tay–Sachs disease

0 references

WikiSkripta article ID

0 references

Sitelinks

Wikipedia(40 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q560337&oldid=2295554595"

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