Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

TAY-SACHS DISEASE
Synonyms

HEXOSAMINIDASE A DEFICIENCY

GM2-GANGLIOSIDOSIS, TYPE I

HEXA DEFICIENCY

TSD

HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE

TAY-SACHS DISEASE, JUVENILE

GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE

TAY-SACHS DISEASE, VARIANT B1

B VARIANT GM2-GANGLIOSIDOSIS

TAY-SACHS DISEASE, PSEUDO-AB VARIANT

GM2-GANGLIOSIDOSIS, VARIANT B1
ID

http://purl.bioontology.org/ontology/OMIM/272800
altLabel

HEXOSAMINIDASE A DEFICIENCY

GM2-GANGLIOSIDOSIS, TYPE I

HEXA DEFICIENCY

TSD

HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE

TAY-SACHS DISEASE, JUVENILE

GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE

TAY-SACHS DISEASE, VARIANT B1

B VARIANT GM2-GANGLIOSIDOSIS

TAY-SACHS DISEASE, PSEUDO-AB VARIANT

GM2-GANGLIOSIDOSIS, VARIANT B1
cui

C2749283

C1848913

C1848915

C1848914

C0039373

C1848917

C1848916
Gene Locus

15q23-q24
Gene Symbol

TSD

HEXA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001334

http://purl.bioontology.org/ontology/OMIM/MTHU000781

http://purl.bioontology.org/ontology/OMIM/MTHU004207

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU009169

http://purl.bioontology.org/ontology/OMIM/MTHU009170

http://purl.bioontology.org/ontology/OMIM/MTHU000695

http://purl.bioontology.org/ontology/OMIM/MTHU009167

http://purl.bioontology.org/ontology/OMIM/MTHU009171

http://purl.bioontology.org/ontology/OMIM/MTHU009172

http://purl.bioontology.org/ontology/OMIM/MTHU009168

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

230710

230700
notation

272800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

TAY-SACHS DISEASE
Scope Statement

Caused by mutations in the hexosaminidase A, alpha polypeptide gene (HEXA, 606869.0001) [MOLECULAR BASIS]

Usually fatal by age 5 years [MISCELLANEOUS]

Infantile onset [MISCELLANEOUS]

Incidence of 1 in 3,900 births among Jewish persons [MISCELLANEOUS]

Incidence of 1 in 320,000 births among non-Jewish persons [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567601 MESH CUI
http://purl.bioontology.org/ontology/MESH/C564782 MESH CUI
http://purl.bioontology.org/ontology/MESH/C564784 MESH CUI
http://purl.bioontology.org/ontology/MESH/C564783 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.02 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/C564786 MESH CUI
http://purl.bioontology.org/ontology/RCD/X40V5 RCD 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/MDRGER/10043147 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013661 MESH 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/SNOMEDCT/238024005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/238024005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C564785 MESH CUI
http://purl.obolibrary.org/obo/DOID_3320 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 EFO LOOM
http://purl.obolibrary.org/obo/DOID_3320 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 MONDO LOOM
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 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 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://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/MESH/D013661 MESH 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