Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Tay-Sachs disease

Synonyms

HEXA disorder

Definitions

A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene.

ID

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

alternative_term

HEXA disorder

GM2 gangliosidosis, Tay-Sachs variant

GM2 gangliosidosis, hexosaminidase A deficiency variant

Beta-hexosaminidase subunitalpha deficiency

definition

A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

hasDbXref

UMLS:C0039373

ICD-10:E75.0

OMIM:272800

MeSH:D013661

MedDRA:10043147

ICD-11:5C56.00

label

Tay-Sachs disease

notation

ORPHA:845

part_of

http://www.orpha.net/ORDO/Orphanet_98544

http://www.orpha.net/ORDO/Orphanet_207018

http://www.orpha.net/ORDO/Orphanet_309152

http://www.orpha.net/ORDO/Orphanet_519325

prefixIRI

ORDO:Orphanet_845

prefLabel

Tay-Sachs disease

present_in

Czech Republic AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000

Europe AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000

Sweden AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000

Netherlands AND has_birth_prevalence_average_value : 0.41 AND has_birth_prevalence_range : 1-9 / 1 000 000

United Arab Emirates AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000

Australia AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000

Europe AND has_point_prevalence_range : Unknown

Canada AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000

Specific population AND has_birth_prevalence_average_value : 27.8 AND has_birth_prevalence_range : 1-5 / 10 000

Portugal AND has_birth_prevalence_average_value : 3.13 AND has_birth_prevalence_range : 1-9 / 100 000

Specific population AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000

Worldwide AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_point_prevalence_range : Unknown

Turkey AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_98544

http://www.orpha.net/ORDO/Orphanet_207018

http://www.orpha.net/ORDO/Orphanet_309152

http://www.orpha.net/ORDO/Orphanet_519325

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_845 EFO SAME_URI
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://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
http://www.gamuts.net/entity#Tay_Sachs_disease GAMUTS REST