Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Ataxia Telangiectasia

Synonyms

Louis Bar Syndrome

Definitions

An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

ID

http://purl.bioontology.org/ontology/MESH/D001260

altLabel

Louis Bar Syndrome

Syndrome, Ataxia Telangiectasia

Ataxia-Telangiectasia

Syndrome, Louis-Bar

Telangiectasia, Cerebello-Oculocutaneous

Louis-Bar Syndrome

Ataxia Telangiectasia Syndrome

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0004135

DC

1

definition

An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

DX

19680101

HN

1968

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

1968

Mapped from

http://purl.bioontology.org/ontology/MESH/C566865

http://purl.bioontology.org/ontology/MESH/C565380

http://purl.bioontology.org/ontology/MESH/C565930

http://purl.bioontology.org/ontology/MESH/C565779

MDA

19990101

MMR

20190617

MN

C18.452.284.060

C16.320.080

C20.673.795.250

C10.597.350.090.500.530.060

C16.320.798.250

C14.907.823.213

C10.562.100

C10.228.140.252.190.530.060

notation

D001260

prefLabel

Ataxia Telangiectasia

TERMUI

T003760

T003761

T003759

T840941

T366092

TH

NLM (1997)

OMIM (2013)

NLM (2000)

NLM (1968)

UNK (19XX)

GHR (2014)

NLM (2014)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D013684

http://purl.bioontology.org/ontology/MESH/D020752

http://purl.bioontology.org/ontology/MESH/D020754

http://purl.bioontology.org/ontology/MESH/D000081207

http://purl.bioontology.org/ontology/MESH/D030342

http://purl.bioontology.org/ontology/MESH/D049914

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/NDFRT/N0000000503 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10003594 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/68504005 SCTSPA 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/OMIM/607585 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10003594 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/208900 OMIM 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.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://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 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008840 MONDO 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://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://radlex.org/RID/RID5126 RADLEX 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://www.gamuts.net/entity#ataxia_telangiectasia GAMUTS 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 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
http://sbmi.uth.tmc.edu/ontology/ochv#1551 OCHV LOOM