Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ATAXIA-TELANGIECTASIA
Synonyms

ATD

AT, COMPLEMENTATION GROUP C

ATAXIA-TELANGIECTASIA VARIANT

AT1

ATC

ATA

AT, COMPLEMENTATION GROUP A

AT, COMPLEMENTATION GROUP E

AT, COMPLEMENTATION GROUP D

AT

LOUIS-BAR SYNDROME

ATE
ID

http://purl.bioontology.org/ontology/OMIM/208900
altLabel

ATD

AT, COMPLEMENTATION GROUP C

ATAXIA-TELANGIECTASIA VARIANT

AT1

ATC

ATA

AT, COMPLEMENTATION GROUP A

AT, COMPLEMENTATION GROUP E

AT, COMPLEMENTATION GROUP D

AT

LOUIS-BAR SYNDROME

ATE
cui

C1876175

C0004135
Gene Locus

11q22.3
Gene Symbol

AT1

ATM

ATA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002023

http://purl.bioontology.org/ontology/OMIM/MTHU014323

http://purl.bioontology.org/ontology/OMIM/MTHU014330

http://purl.bioontology.org/ontology/OMIM/MTHU014322

http://purl.bioontology.org/ontology/OMIM/MTHU014317

http://purl.bioontology.org/ontology/OMIM/MTHU041732

http://purl.bioontology.org/ontology/OMIM/MTHU014314

http://purl.bioontology.org/ontology/OMIM/MTHU014315

http://purl.bioontology.org/ontology/OMIM/MTHU014318

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU014321

http://purl.bioontology.org/ontology/OMIM/MTHU014312

http://purl.bioontology.org/ontology/OMIM/MTHU014316

http://purl.bioontology.org/ontology/OMIM/MTHU014327

http://purl.bioontology.org/ontology/OMIM/MTHU014328

http://purl.bioontology.org/ontology/OMIM/MTHU014320

http://purl.bioontology.org/ontology/OMIM/MTHU036798

http://purl.bioontology.org/ontology/OMIM/MTHU072425

http://purl.bioontology.org/ontology/OMIM/MTHU014324

http://purl.bioontology.org/ontology/OMIM/MTHU014304

http://purl.bioontology.org/ontology/OMIM/MTHU014305

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU014331

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU014326

http://purl.bioontology.org/ontology/OMIM/MTHU000926

http://purl.bioontology.org/ontology/OMIM/MTHU014313

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU014329

http://purl.bioontology.org/ontology/OMIM/MTHU014325

http://purl.bioontology.org/ontology/OMIM/MTHU000132

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU072424

http://purl.bioontology.org/ontology/OMIM/MTHU014307

http://purl.bioontology.org/ontology/OMIM/MTHU014333

http://purl.bioontology.org/ontology/OMIM/MTHU037262

http://purl.bioontology.org/ontology/OMIM/MTHU004684

http://purl.bioontology.org/ontology/OMIM/MTHU014332

http://purl.bioontology.org/ontology/OMIM/MTHU006260

http://purl.bioontology.org/ontology/OMIM/MTHU014319

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU008966

http://purl.bioontology.org/ontology/OMIM/MTHU014311

http://purl.bioontology.org/ontology/OMIM/MTHU037263

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

208905
notation

208900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ATAXIA-TELANGIECTASIA
Scope Statement

Variant AT may present with dystonia only [MISCELLANEOUS]

Hypersensitivity to ionizing radiation [MISCELLANEOUS]

Caused by mutation in the ATM serine/threonine kinase gene (ATM, 607585.0001) [MOLECULAR BASIS]

Telangiectasia become evident between the second and eighth year of life [MISCELLANEOUS]

Ataxia becomes evident at the end of the first year of life [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566865 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000503 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/763065008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/763065008 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10003594 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/68504005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D001260 MESH CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042838 PDQ CUI
http://purl.bioontology.org/ontology/CSP/0485-2495 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10003594 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D001260 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/68504005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/F14y0 RCD CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNMI/D4-00613 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10003594 MDRFRE CUI
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://www.phoc.org.cn/pmo/class/PMO_00036572 PMAPP-PMO 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.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