Terminology Service < Semantic Lookup Platform

Ataxia Telangiectasia

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

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).

Tree view

Instance info

Synonyms

Louis-Bar Syndrome, Ataxia Telangiectasia Syndrome, Syndrome, Louis-Bar, Ataxia teleangiectatica (DE), Louis Bar Syndrome, Teleangiektasie, zephalo-okulo-kutane (DE), Ataxia-Telangiectasia, Syndrome, Ataxia Telangiectasia, Telangiectasia, Cerebello-Oculocutaneous, Louis-Bar-Syndrom (DE)

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

19680101

1968

MDA

19990101

MMR

20130708

C18.452.284.060,C10.562.100,C10.597.350.090.500.530.060,C10.228.140.252.190.530.060,C16.320.080,C20.673.290,C14.907.823.213

1968

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D016864,http://purl.bioontology.org/ontology/MESH/D017436,http://purl.bioontology.org/ontology/MESH/D014402,http://purl.bioontology.org/ontology/MESH/D009136,http://purl.bioontology.org/ontology/MESH/D017675,http://purl.bioontology.org/ontology/MESH/D019896,http://purl.bioontology.org/ontology/MESH/D025063,http://purl.bioontology.org/ontology/MESH/D010009,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D010004,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D015658,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D000312,http://purl.bioontology.org/ontology/MESH/D053840,http://purl.bioontology.org/ontology/MESH/D052159,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D054179,http://purl.bioontology.org/ontology/MESH/D050174,http://purl.bioontology.org/ontology/MESH/D050010,http://purl.bioontology.org/ontology/MESH/D018370,http://purl.bioontology.org/ontology/MESH/D065768,http://purl.bioontology.org/ontology/MESH/D014898,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D008231,http://purl.bioontology.org/ontology/MESH/D012873,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D016511,http://purl.bioontology.org/ontology/MESH/D015785,http://purl.bioontology.org/ontology/MESH/D013683,http://purl.bioontology.org/ontology/MESH/D006453,http://purl.bioontology.org/ontology/MESH/D004392,http://purl.bioontology.org/ontology/MESH/D020294,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D007619,http://purl.bioontology.org/ontology/MESH/D049932,http://purl.bioontology.org/ontology/MESH/D029502,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D046589,http://purl.bioontology.org/ontology/MESH/D025861,http://purl.bioontology.org/ontology/MESH/D054000,http://purl.bioontology.org/ontology/MESH/D017253,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D000745,http://purl.bioontology.org/ontology/MESH/D006800,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D014983,http://purl.bioontology.org/ontology/MESH/D010585,http://purl.bioontology.org/ontology/MESH/D010381,http://purl.bioontology.org/ontology/MESH/D008661,http://purl.bioontology.org/ontology/MESH/D005199,http://purl.bioontology.org/ontology/MESH/D011038,http://purl.bioontology.org/ontology/MESH/D031845,http://purl.bioontology.org/ontology/MESH/D000071070,http://purl.bioontology.org/ontology/MESH/D024741,http://purl.bioontology.org/ontology/MESH/D053306,http://purl.bioontology.org/ontology/MESH/D056735,http://purl.bioontology.org/ontology/MESH/D003123,http://purl.bioontology.org/ontology/MESH/D000077428,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D002636,http://purl.bioontology.org/ontology/MESH/D003966,http://purl.bioontology.org/ontology/MESH/D000699,http://purl.bioontology.org/ontology/MESH/D009386,http://purl.bioontology.org/ontology/MESH/D013341,http://purl.bioontology.org/ontology/MESH/D058456,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D017827,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D040181,http://purl.bioontology.org/ontology/MESH/D020271,http://purl.bioontology.org/ontology/MESH/D003550,http://purl.bioontology.org/ontology/MESH/D000361,http://purl.bioontology.org/ontology/MESH/D001816,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D056684,http://purl.bioontology.org/ontology/MESH/D006623,http://purl.bioontology.org/ontology/MESH/D017074,http://purl.bioontology.org/ontology/MESH/D004406

TERMUI

T003760,T003761,T840941,T003759,T366092

GHR (2014),ORD (2010),OMIM (2013),NLM (2000),NLM (1968),UNK (19XX),NLM (2014),NLM (1997)

cui

C0004135

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C565380,http://purl.bioontology.org/ontology/MESH/C565779,http://purl.bioontology.org/ontology/MESH/C565930,http://purl.bioontology.org/ontology/MESH/C566865

tui

T047

Instance relations

Types

Class