BioAssay Ontology

Last uploaded: February 21, 2024
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Preferred Name

Tay-Sachs disease
Synonyms

A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.

GM2 gangliosidosis, type 1

hexosaminidase A deficiency
Definitions

OMIM mapping confirmed by DO. [SN].
ID

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

OMIM mapping confirmed by DO. [SN].
database_cross_reference

SNOMEDCT_US_2020_03_01:111385000

UMLS_CUI:C0039373

MESH:D013661

OMIM:272800

ICD10CM:E75.02

GARD:7737

NCI:C85184
has exact synonym

A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.

GM2 gangliosidosis, type 1

hexosaminidase A deficiency
has_obo_namespace

disease_ontology
id

DOID:3320
imported from

http://purl.obolibrary.org/obo/doid.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label

Tay-Sachs disease
notation

DOID:3320
prefLabel

Tay-Sachs disease
subClassOf

http://purl.obolibrary.org/obo/DOID_3321
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3320 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 FNS-H SAME_URI
http://www.radlex.org/RID/RID34416 RADLEX 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
rgo:26277 GAMUTS 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 CCONT 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 EFO 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://nanbyodata.jp/ontology/NANDO_1200071 NANDO 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 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3320 DDSS 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://nanbyodata.jp/ontology/NANDO_2201199 NANDO 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://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