PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Tay-Sachs Disease

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00038561

Database_Cross_Reference

RCD:X40V1

MTH:NOCODE

MEDLINEPLUS:2737

MEDCIN:32001

SNOMEDCT_US:111385000

MTHICD9:330.1

NDFRT:N0000002901

ICD10CM:E75.02

CSP:1849-8690

LCH:U004590

DO:DOID:3320

LCH_NW:sh85132905

OMIM:272800

OMIM:606869

DXP:U003936

OMIM:MTHU009172

DXP:U001820

NCI:C85184

CHV:0000012051

PSY:51560

COSTAR:U000579

SNM:D-1453

MSH:D013661

MDR:10043147

DXP:NOCODE

SNMI:D6-76130

label

Tay-Sachs Disease

MCID

MC00012572

PMOID

PMO:00038561

prefixIRI

pmo:PMO_00038561

prefLabel

Tay-Sachs Disease

Synonym

disease, Tay-Sachs

Gangliosidosis GM2 , Type 1

diseases sachs tay

Tay-Sachs disease (disorder)

Tay-Sachs Disease [Disease/Finding]

diseases tay sachs

Severe hexosaminidase A deficiency

HEXA DEFICIENCY

TAY SACH'S DISEASE

disease sach's tay

Tay Sachs Disease

disease sach tay

Disease, Tay-Sachs

Sphingolipidosis, Tay-Sachs

Deficiency Disease Hexosaminidase A

Tay-Sachs disease (diagnosis)

Tay-Sachs Disease, B Variant

Tay-Sachs Sphingolipidosis

TAY SACHS DISEASE

GM2-Gangliosidosis, Type I

tay-sachs disease

diseases sachs tays

deficiency hexosaminidase

GANGLIOSIDOSIS GM2 TYPE 1

tsd

GANGLIOSIDOSIS GM2 TYPE I

disease sachs tay

GM GANGLIOSIDOSIS 02 TYPE I

TAY SACHS DIS

TAY-SACHS DISEASE

Tay Sachs Disease, B Variant

Tay-Sachs disease

Type I GM2-Gangliosidosis

HEXOSAMINIDASE A DEFICIENCY

GM2 GANGLIOSIDOSIS TYPE I

GM2-Gangliosidosis, B Variant

Tay Sachs disease

tay sachs disease

TSD

GM2 gangliosidosis, type I

GANGLIOSIDOSIS GM 02 B VARIANT

Gangliosidosis GM2, B Variant

GM2 Gangliosidosis, Type 1

Hexosaminidase A deficiency

Gangliosidosis G(M2), Type I

DEFIC DIS HEXOSAMINIDASE A

LIPIDOSIS, GANGLIOSIDE, INFANTILE

GM2 gangliosidosis

disease tay sach

GM2-GANGLIOSIDOSIS, TYPE I

HEXOSAMINIDASE A DEFIC DIS

disease tay-sachs

B Variant GM2-Gangliosidoses

B Variant GM2-Gangliosidosis

hexosaminidase A deficiency

B Variant GM2 Gangliosidosis

gangliosidosis GM2 type I

Sphingolipidosis, Tay Sachs

GM2 gangliosidosis, type 1

GM>2< gangliosidosis, type 1

B VARIANT GM2-GANGLIOSIDOSIS

GM2 Gangliosidosis, Type I

GANGLIOSIDOSIS GM 02 TYPE I

GM2 Gangliosidosis, B Variant

G(M2) Gangliosidosis, Type I

Hexosaminidase A Deficiency Disease

GM2 gangliosidosis, type 1

Gangliosidosis GM2, Type I

INFANTILE GANGLIOSIDE LIPIDOSIS

tay sach's disease

disease tay sachs

Tree Number

T9.11.1.6.2.19.5.5.1.1

T9.11.1.12.3.7.5.5.1.1

T9.11.1.12.7.5.4.5.1.1

T9.8.4.14.3.7.5.5.1.1

T9.8.4.14.8.19.5.5.1.1

T9.21.15.5.17.2.19.5.5.1.1

T9.8.4.14.7.5.4.5.1.1

T9.11.1.2.6.5.4.5.1.1

T9.11.1.2.2.4.5.1.1

T9.11.1.12.8.19.5.5.1.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038559

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010100 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_1200071 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_3320 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2201199 NANDO 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.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://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/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