Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Tay-Sachs disease

Synonyms

Tay-Sachs disease (disorder)

hexosaminidase A deficiency

disease, Tay-Sachs

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

UMLS_CUI:C0039373

OMIM:272800

MESH:D013661

ICD10CM:E75.02

NCI:C85184

SNOMEDCT_US_2016_03_01:111385000

has_exact_synonym

Tay-Sachs disease (disorder)

hexosaminidase A deficiency

disease, Tay-Sachs

has_obo_namespace

disease_ontology

id

DOID:3320

label

Tay-Sachs disease

notation

DOID:3320

prefLabel

Tay-Sachs disease

treeView

http://purl.obolibrary.org/obo/DOID_3321

subClassOf

http://purl.obolibrary.org/obo/DOID_3321

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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.300.300.500 RH-MESH LOOM
http://localhost/plosthes.2017-1#10289 PLOSTHES LOOM
http://www.orpha.net/ORDO/Orphanet_845 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_845 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_845 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.350.300.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1849-8690 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.350.300.850 RH-MESH LOOM
http://radlex.org/RID/RID34416 RADLEX LOOM
http://purl.bioontology.org/ontology/MEDDRA/10043147 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/111385000 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_3320 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3320 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3320 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3320 NIFSTD SAME_URI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.300.300.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/F101300 RCTV2 LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_11_1 HAMIDEHSGH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.300.300.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.300.300.840 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#TaySachsDisease GALEN LOOM
http://www.gamuts.net/entity#Tay_Sachs_disease GAMUTS REST
http://www.gamuts.net/entity#Tay_Sachs_disease GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0010100 MONDO LOOM
http://purl.bioontology.org/ontology/MESH/D013661 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013661 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85184 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.300.300.840 RH-MESH LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease ESSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.350.300.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI LOOM
http://purl.jp/bio/4/id/200906096879417680 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.02 ICD10CM LOOM
http://purl.bioontology.org/ontology/OMIM/272800 OMIM LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Tay_Sachs_Disease APAONTO 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 APAEDUCLUSTER LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3320 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_888 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Tay-Sachs_Disease CSEO LOOM
http://www.projecthalo.com/aura#Tay-Sachs-disease AURA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.300.300.500 RH-MESH LOOM