PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Ataxia Telangiectasia
Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00036572

Database_Cross_Reference

MTHICD9:334.8

MDR:10003594

MTH:NOCODE

OMIM:208900

RCD:F14y0

SNOMEDCT_US:68504005

SNM:D-8493

COSTAR:NOCODE

CHV:0000001551

MEDLINEPLUS:3795

MSH:D001260

CSP:0485-2495

LCH:U000412

LCH_NW:sh85009081

NCI_NCI-GLOSS:CDR0000270853

DXP:U000174

MEDCIN:32231

PDQ:CDR0000042838

OMIM:607585

DRUGBANK:DB12856

NCI:C2887

DXP:NOCODE

AOD:0000023635

SNMI:D4-00613

NDFRT:N0000000503

DO:DOID:12704

label

Ataxia Telangiectasia

MCID

MC00001338

PMOID

PMO:00036572

prefixIRI

pmo:PMO_00036572

prefLabel

Ataxia Telangiectasia

Synonym

Boder-Sedgwick syndrome

ATD

ataxia telangiectasia (Louis-Bar disease)

Ataxia telangiectasia syndrome

Ataxia Telangiectasia Syndrome

Ataxia telangiectasia

Ataxia-telangiectasia syndrome

AT

AT, COMPLEMENTATION GROUP D

Louis Bar Syndrome

Louis-Bar syndrome

ATC

Louis-Bar Syndrome

ATE

ataxia telangiectasia (ATM)

Louis Bar syndrome

AT1

Ataxia Telangiectasia [Disease/Finding]

Louis-Bar disease

ATAXIA, TELANGIECTASIA

TELANGIECTASIA, CEREBELLO-OCULOCUTANEOUS

ATAXIA-TELANGIECTASIA

AT, COMPLEMENTATION GROUP A

Ataxia-telangiectasia syndrome (disorder)

ataxia telangiectasia (diagnosis)

LOUIS-BAR SYNDROME

ATM

Syndrome, Louis-Bar

louis bar syndrome

Ataxia-Telangiectasia

ataxia-telangiectasia

ATA

Syndrome, Ataxia Telangiectasia

Ataxia-telangiectasia

AT, COMPLEMENTATION GROUP C

Telangiectasia, Cerebello-Oculocutaneous

AT, COMPLEMENTATION GROUP E

louis-bar syndrome

ataxia telangiectasia

Tree Number

T9.11.1.17.2

T9.21.15.7.6.7.1.1.1

T9.8.3.4.7.3.1

T3.25.216.1.1

T9.21.15.5.13.4.2.1

T9.20.2.37.1

T9.21.15.5.13.1.1.1

T9.14.1.5.7.3.1

T9.21.2.1

T9.21.15.6.5.2.1

T9.21.1.17.7.1.1.1

T9.8.4.44.18.2.1

T3.25.76.7.1.1.1

T9.8.4.35

T9.8.4.1.3.3.1

T9.23.5.1

T9.8.3.1.2.3.1

T3.25.11.17.7.1.1.1

T9.21.4.2.18.2.1

T9.14.1.1.3.3.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00008602

http://www.phoc.org.cn/pmo/class/PMO_00039335

http://www.phoc.org.cn/pmo/class/PMO_00009131

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00038515

http://www.phoc.org.cn/pmo/class/PMO_00036403

http://www.phoc.org.cn/pmo/class/PMO_00037473

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12704 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200705 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10003594 MEDDRA LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12649 BIRNLEX LOOM
http://purl.bioontology.org/ontology/MESH/D001260 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_104 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.190.530.060 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0002644 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12704 NATPRO LOOM
http://purl.obolibrary.org/obo/DERMO_0000598 DERMO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042838 PDQ LOOM
http://purl.bioontology.org/ontology/CSP/0485-2495 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.350.090.500.530.060 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_100 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_100 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_100 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/208900 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.823.213 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D001260 RH-MESH LOOM
http://www.semanticweb.org/alan/ontologies/2013/8/untitled-ontology-9#Ataxia_Telangiectasia DLORO LOOM
http://purl.jp/bio/4/id/200906078141537445 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.673.290 RH-MESH LOOM
http://identifiers.org/omim/208900 REXO LOOM
http://identifiers.org/omim/208900 GEXO LOOM
http://identifiers.org/omim/208900 RETO LOOM
http://nanbyodata.jp/ontology/NANDO_1200331 NANDO LOOM
http://www.radlex.org/RID/RID5126 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.060 RH-MESH LOOM
http://localhost/plosthes.2017-1#2561 PLOSTHES LOOM
http://purl.bioontology.org/ontology/RCD/F14y0 RCD LOOM
http://purl.obolibrary.org/obo/OMIM_208900 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.080 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D001260 MDM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/DOID_12704 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12704 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12704 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12704 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12704 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12704 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12704 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12704 FNS-H LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14433 DERMLEX LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12649 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12649 NIFSTD LOOM
http://purl.bioontology.org/ontology/RCTV2/F14y000 RCTV2 LOOM
rgo:07009 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1551 OCHV LOOM