Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Tay-Sachs Disease

Synonyms

Deficiency, Hexosaminidase alpha-Subunit (Variant B)

Definitions

An outdated term for Tay-Sachs disease.

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An outdated term for Tay-Sachs disease.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

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D001619

http://purl.bioontology.org/ontology/MESH/D005678

http://purl.bioontology.org/ontology/MESH/D054818

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

http://purl.bioontology.org/ontology/MESH/C564785

http://purl.bioontology.org/ontology/MESH/C564786

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

http://purl.bioontology.org/ontology/MESH/D020143

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E75.02 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/1849-6833 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/272800 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10043147 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-8690 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002901 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/606869 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU009172 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10043147 MDRGER CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SCTSPA/111385000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40V1 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10043147 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D013661 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111385000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10061888 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10061888 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/1849-8576 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10061888 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/111385000 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D013661 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111385000 SNOMEDCT CUI
http://sbmi.uth.tmc.edu/ontology/ochv#12051 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.350.300.850 RH-MESH LOOM
http://localhost/plosthes.2017-1#10289 PLOSTHES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0039373 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C85184 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038561 PMAPP-PMO LOOM
http://www.projecthalo.com/aura#Tay-Sachs-disease AURA LOOM
http://www.co-ode.org/ontologies/galen#TaySachsDisease GALEN LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Tay-Sachs_Disease CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.300.300.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.300.300.840 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3320 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_3320 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3320 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3320 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3320 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3320 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3320 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.300.300.840 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.02 ICD10CM LOOM
http://radlex.org/RID/RID34416 RADLEX LOOM
http://purl.jp/bio/4/id/200906096879417680 IOBC LOOM
http://purl.bioontology.org/ontology/OMIM/272800 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.300.300.500 RH-MESH LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Tay_Sachs_Disease APAEDUCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Tay_Sachs_Disease APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Tay_Sachs_Disease APAONTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.300.300.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.300.300.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10043147 MEDDRA LOOM
http://www.gamuts.net/entity#Tay_Sachs_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/CSP/1849-8690 CRISP LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_11_1 HAMIDEHSGH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_888 HRDO LOOM
http://purl.obolibrary.org/obo/OMIT_0014518 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_845 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.350.300.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/F101300 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013661 RH-MESH LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease EPISEM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85184 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.350.300.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/111385000 SNOMEDCT LOOM