skos:definition |
MSH: 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).,CSP: inherited disease characterized by onset in early childhood of progressive cerebellar ataxia, oculocutaneous telangiectasis, and severe sinopulmonary infections.,MEDLINEPLUS: <p>Ataxia-telangiectasia (AT) is a rare, inherited disease that affects the nervous system, immune system and other body systems. Symptoms appear in young children and include</p><ul><li> Ataxia - trouble coordinating moveme
|
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R120205084,
http://linkedlifedata.com/resource/umls/relation/R120205085,
http://linkedlifedata.com/resource/umls/relation/R120205086,
http://linkedlifedata.com/resource/umls/relation/R120205087,
http://linkedlifedata.com/resource/umls/relation/R120205090,
http://linkedlifedata.com/resource/umls/relation/R120205091,
http://linkedlifedata.com/resource/umls/relation/R120205092,
http://linkedlifedata.com/resource/umls/relation/R120205093,
http://linkedlifedata.com/resource/umls/relation/R120205094,
http://linkedlifedata.com/resource/umls/relation/R120205104,
http://linkedlifedata.com/resource/umls/relation/R120205095,
http://linkedlifedata.com/resource/umls/relation/R120205096,
http://linkedlifedata.com/resource/umls/relation/R120205097,
http://linkedlifedata.com/resource/umls/relation/R120205098,
http://linkedlifedata.com/resource/umls/relation/R120205100,
http://linkedlifedata.com/resource/umls/relation/R120205101,
http://linkedlifedata.com/resource/umls/relation/R120205102,
http://linkedlifedata.com/resource/umls/relation/R120205103,
http://linkedlifedata.com/resource/umls/relation/R120205107,
http://linkedlifedata.com/resource/umls/relation/R120205108,
http://linkedlifedata.com/resource/umls/relation/R120205110,
http://linkedlifedata.com/resource/umls/relation/R120205111,
http://linkedlifedata.com/resource/umls/relation/R120205112,
http://linkedlifedata.com/resource/umls/relation/R120205113,
http://linkedlifedata.com/resource/umls/relation/R120205114,
http://linkedlifedata.com/resource/umls/relation/R120205115,
http://linkedlifedata.com/resource/umls/relation/R120205116,
http://linkedlifedata.com/resource/umls/relation/R120205117,
http://linkedlifedata.com/resource/umls/relation/R120205118,
http://linkedlifedata.com/resource/umls/relation/R120205119,
http://linkedlifedata.com/resource/umls/relation/R120205106,
http://linkedlifedata.com/resource/umls/relation/R120205088,
http://linkedlifedata.com/resource/umls/relation/R120205099,
http://linkedlifedata.com/resource/umls/relation/R120205109,
http://linkedlifedata.com/resource/umls/relation/R120205089,
http://linkedlifedata.com/resource/umls/relation/R120205105,
http://linkedlifedata.com/resource/umls/relation/R71313207,
http://linkedlifedata.com/resource/umls/relation/R71035659,
http://linkedlifedata.com/resource/umls/relation/R71163015,
http://linkedlifedata.com/resource/umls/relation/R70994977,
http://linkedlifedata.com/resource/umls/relation/R71216026,
http://linkedlifedata.com/resource/umls/relation/R71094309,
http://linkedlifedata.com/resource/umls/relation/R128767622,
http://linkedlifedata.com/resource/umls/relation/R101251282,
http://linkedlifedata.com/resource/umls/relation/R71072190,
http://linkedlifedata.com/resource/umls/relation/R71191753,
http://linkedlifedata.com/resource/umls/relation/R71237649,
http://linkedlifedata.com/resource/umls/relation/R71182229,
http://linkedlifedata.com/resource/umls/relation/R71386651,
http://linkedlifedata.com/resource/umls/relation/R71264255,
http://linkedlifedata.com/resource/umls/relation/R71098935,
http://linkedlifedata.com/resource/umls/relation/R71331373,
http://linkedlifedata.com/resource/umls/relation/R71221012,
http://linkedlifedata.com/resource/umls/relation/R71108940,
http://linkedlifedata.com/resource/umls/relation/R71043806,
http://linkedlifedata.com/resource/umls/relation/R71208684,
http://linkedlifedata.com/resource/umls/relation/R71153485,
http://linkedlifedata.com/resource/umls/relation/R71163655,
http://linkedlifedata.com/resource/umls/relation/R71208710,
http://linkedlifedata.com/resource/umls/relation/R71165862,
http://linkedlifedata.com/resource/umls/relation/R71264263,
http://linkedlifedata.com/resource/umls/relation/R71043837,
http://linkedlifedata.com/resource/umls/relation/R71328713,
http://linkedlifedata.com/resource/umls/relation/R71053912,
http://linkedlifedata.com/resource/umls/relation/R71053910,
http://linkedlifedata.com/resource/umls/relation/R71098903,
http://linkedlifedata.com/resource/umls/relation/R70999151,
http://linkedlifedata.com/resource/umls/relation/R71106337,
http://linkedlifedata.com/resource/umls/relation/R71208685,
http://linkedlifedata.com/resource/umls/relation/R71264264,
http://linkedlifedata.com/resource/umls/relation/R71319157,
http://linkedlifedata.com/resource/umls/relation/R70989080,
http://linkedlifedata.com/resource/umls/relation/R71043807,
http://linkedlifedata.com/resource/umls/relation/R71153507,
http://linkedlifedata.com/resource/umls/relation/R129108270,
http://linkedlifedata.com/resource/umls/relation/R71274302,
http://linkedlifedata.com/resource/umls/relation/R71056020,
http://linkedlifedata.com/resource/umls/relation/R71374299,
http://linkedlifedata.com/resource/umls/relation/R71328714,
http://linkedlifedata.com/resource/umls/relation/R71263205,
http://linkedlifedata.com/resource/umls/relation/R71273762,
http://linkedlifedata.com/resource/umls/relation/R71319177,
http://linkedlifedata.com/resource/umls/relation/R71053911,
http://linkedlifedata.com/resource/umls/relation/R71331375,
http://linkedlifedata.com/resource/umls/relation/R71163656,
http://linkedlifedata.com/resource/umls/relation/R71264287,
http://linkedlifedata.com/resource/umls/relation/R71386656,
http://linkedlifedata.com/resource/umls/relation/R129108271,
http://linkedlifedata.com/resource/umls/relation/R119528642,
http://linkedlifedata.com/resource/umls/relation/R71108352,
http://linkedlifedata.com/resource/umls/relation/R71319178,
http://linkedlifedata.com/resource/umls/relation/R71373137,
http://linkedlifedata.com/resource/umls/relation/R111777373,
http://linkedlifedata.com/resource/umls/relation/R119528640,
http://linkedlifedata.com/resource/umls/relation/R119528643,
http://linkedlifedata.com/resource/umls/relation/R71108941,
http://linkedlifedata.com/resource/umls/relation/R111777377,
http://linkedlifedata.com/resource/umls/relation/R71328715,
http://linkedlifedata.com/resource/umls/relation/R111777375,
http://linkedlifedata.com/resource/umls/relation/R119528644,
http://linkedlifedata.com/resource/umls/relation/R71374309,
http://linkedlifedata.com/resource/umls/relation/R71331376,
http://linkedlifedata.com/resource/umls/relation/R111777374,
http://linkedlifedata.com/resource/umls/relation/R111777372,
http://linkedlifedata.com/resource/umls/relation/R71208715,
http://linkedlifedata.com/resource/umls/relation/R70989104,
http://linkedlifedata.com/resource/umls/relation/R71153508,
http://linkedlifedata.com/resource/umls/relation/R70989113,
http://linkedlifedata.com/resource/umls/relation/R71098936,
http://linkedlifedata.com/resource/umls/relation/R70989114,
http://linkedlifedata.com/resource/umls/relation/R71374308,
http://linkedlifedata.com/resource/umls/relation/R119528641,
http://linkedlifedata.com/resource/umls/relation/R71264293,
http://linkedlifedata.com/resource/umls/relation/R71319183,
http://linkedlifedata.com/resource/umls/relation/R111777376,
http://linkedlifedata.com/resource/umls/relation/R71319182,
http://linkedlifedata.com/resource/umls/relation/R111777371,
http://linkedlifedata.com/resource/umls/relation/R28429244,
http://linkedlifedata.com/resource/umls/relation/R28504811,
http://linkedlifedata.com/resource/umls/relation/R28504812,
http://linkedlifedata.com/resource/umls/relation/R28446433,
http://linkedlifedata.com/resource/umls/relation/R00737126,
http://linkedlifedata.com/resource/umls/relation/R44003423,
http://linkedlifedata.com/resource/umls/relation/R44003792,
http://linkedlifedata.com/resource/umls/relation/R44003794,
http://linkedlifedata.com/resource/umls/relation/R44003793,
http://linkedlifedata.com/resource/umls/relation/R43978233,
http://linkedlifedata.com/resource/umls/relation/R43978235,
http://linkedlifedata.com/resource/umls/relation/R43978234,
http://linkedlifedata.com/resource/umls/relation/R43978640,
http://linkedlifedata.com/resource/umls/relation/R43985927,
http://linkedlifedata.com/resource/umls/relation/R44005688,
http://linkedlifedata.com/resource/umls/relation/R44005690,
http://linkedlifedata.com/resource/umls/relation/R44005723,
http://linkedlifedata.com/resource/umls/relation/R44005677,
http://linkedlifedata.com/resource/umls/relation/R44005693,
http://linkedlifedata.com/resource/umls/relation/R44005694,
http://linkedlifedata.com/resource/umls/relation/R44005696,
http://linkedlifedata.com/resource/umls/relation/R44005680,
http://linkedlifedata.com/resource/umls/relation/R44005698,
http://linkedlifedata.com/resource/umls/relation/R44005695,
http://linkedlifedata.com/resource/umls/relation/R44005681,
http://linkedlifedata.com/resource/umls/relation/R44005715,
http://linkedlifedata.com/resource/umls/relation/R44005697,
http://linkedlifedata.com/resource/umls/relation/R44005718,
http://linkedlifedata.com/resource/umls/relation/R44005727,
http://linkedlifedata.com/resource/umls/relation/R44005682,
http://linkedlifedata.com/resource/umls/relation/R44005700,
http://linkedlifedata.com/resource/umls/relation/R44005678,
http://linkedlifedata.com/resource/umls/relation/R44005701,
http://linkedlifedata.com/resource/umls/relation/R44005707,
http://linkedlifedata.com/resource/umls/relation/R44005683,
http://linkedlifedata.com/resource/umls/relation/R44005702,
http://linkedlifedata.com/resource/umls/relation/R44005676,
http://linkedlifedata.com/resource/umls/relation/R44005703,
http://linkedlifedata.com/resource/umls/relation/R44005679,
http://linkedlifedata.com/resource/umls/relation/R44005686,
http://linkedlifedata.com/resource/umls/relation/R44005706,
http://linkedlifedata.com/resource/umls/relation/R44005708,
http://linkedlifedata.com/resource/umls/relation/R44005709,
http://linkedlifedata.com/resource/umls/relation/R44005710,
http://linkedlifedata.com/resource/umls/relation/R44005684,
http://linkedlifedata.com/resource/umls/relation/R44005699,
http://linkedlifedata.com/resource/umls/relation/R44005712,
http://linkedlifedata.com/resource/umls/relation/R44005713,
http://linkedlifedata.com/resource/umls/relation/R44005685,
http://linkedlifedata.com/resource/umls/relation/R44005687,
http://linkedlifedata.com/resource/umls/relation/R44005714,
http://linkedlifedata.com/resource/umls/relation/R44005691,
http://linkedlifedata.com/resource/umls/relation/R44005730,
http://linkedlifedata.com/resource/umls/relation/R44005725,
http://linkedlifedata.com/resource/umls/relation/R44005689,
http://linkedlifedata.com/resource/umls/relation/R44005692,
http://linkedlifedata.com/resource/umls/relation/R44005721,
http://linkedlifedata.com/resource/umls/relation/R44005726,
http://linkedlifedata.com/resource/umls/relation/R44005705,
http://linkedlifedata.com/resource/umls/relation/R44005719,
http://linkedlifedata.com/resource/umls/relation/R44005729,
http://linkedlifedata.com/resource/umls/relation/R44005716,
http://linkedlifedata.com/resource/umls/relation/R44005720,
http://linkedlifedata.com/resource/umls/relation/R44005724,
http://linkedlifedata.com/resource/umls/relation/R44005728,
http://linkedlifedata.com/resource/umls/relation/R44005711,
http://linkedlifedata.com/resource/umls/relation/R44005722,
http://linkedlifedata.com/resource/umls/relation/R44005704,
http://linkedlifedata.com/resource/umls/relation/R44005717,
http://linkedlifedata.com/resource/umls/relation/R132886482,
http://linkedlifedata.com/resource/umls/relation/R60621541,
http://linkedlifedata.com/resource/umls/relation/R60534202,
http://linkedlifedata.com/resource/umls/relation/R132886484,
http://linkedlifedata.com/resource/umls/relation/R60708884,
http://linkedlifedata.com/resource/umls/relation/R60534203,
http://linkedlifedata.com/resource/umls/relation/R60505281,
http://linkedlifedata.com/resource/umls/relation/R60708883,
http://linkedlifedata.com/resource/umls/relation/R60592737,
http://linkedlifedata.com/resource/umls/relation/R60708877,
http://linkedlifedata.com/resource/umls/relation/R60621493,
http://linkedlifedata.com/resource/umls/relation/R60679643,
http://linkedlifedata.com/resource/umls/relation/R60650586,
http://linkedlifedata.com/resource/umls/relation/R60621495,
http://linkedlifedata.com/resource/umls/relation/R60679644,
http://linkedlifedata.com/resource/umls/relation/R60621482,
http://linkedlifedata.com/resource/umls/relation/R60679761,
http://linkedlifedata.com/resource/umls/relation/R60680512,
http://linkedlifedata.com/resource/umls/relation/R60535173,
http://linkedlifedata.com/resource/umls/relation/R60506120,
http://linkedlifedata.com/resource/umls/relation/R132886483,
http://linkedlifedata.com/resource/umls/relation/R60506121,
http://linkedlifedata.com/resource/umls/relation/R60708876,
http://linkedlifedata.com/resource/umls/relation/R60650535,
http://linkedlifedata.com/resource/umls/relation/R60708878,
http://linkedlifedata.com/resource/umls/relation/R60505282,
http://linkedlifedata.com/resource/umls/relation/R60679762,
http://linkedlifedata.com/resource/umls/relation/R60650647,
http://linkedlifedata.com/resource/umls/relation/R60563515,
http://linkedlifedata.com/resource/umls/relation/R60534350,
http://linkedlifedata.com/resource/umls/relation/R60621603,
http://linkedlifedata.com/resource/umls/relation/R60592738,
http://linkedlifedata.com/resource/umls/relation/R60505393,
http://linkedlifedata.com/resource/umls/relation/R60708997,
http://linkedlifedata.com/resource/umls/relation/R60534351,
http://linkedlifedata.com/resource/umls/relation/R60621604,
http://linkedlifedata.com/resource/umls/relation/R60505330,
http://linkedlifedata.com/resource/umls/relation/R60592678,
http://linkedlifedata.com/resource/umls/relation/R60534276,
http://linkedlifedata.com/resource/umls/relation/R60563450,
http://linkedlifedata.com/resource/umls/relation/R60534277,
http://linkedlifedata.com/resource/umls/relation/R60650587,
http://linkedlifedata.com/resource/umls/relation/R60679703,
http://linkedlifedata.com/resource/umls/relation/R60650588,
http://linkedlifedata.com/resource/umls/relation/R125088542,
http://linkedlifedata.com/resource/umls/relation/R60621548,
http://linkedlifedata.com/resource/umls/relation/R60534284,
http://linkedlifedata.com/resource/umls/relation/R60505340,
http://linkedlifedata.com/resource/umls/relation/R60563388,
http://linkedlifedata.com/resource/umls/relation/R125088543,
http://linkedlifedata.com/resource/umls/relation/R60535172,
http://linkedlifedata.com/resource/umls/relation/R60506119,
http://linkedlifedata.com/resource/umls/relation/R60680511,
http://linkedlifedata.com/resource/umls/relation/R60490274,
http://linkedlifedata.com/resource/umls/relation/R60635400,
http://linkedlifedata.com/resource/umls/relation/R60693871,
http://linkedlifedata.com/resource/umls/relation/R43996527,
http://linkedlifedata.com/resource/umls/relation/R101250370,
http://linkedlifedata.com/resource/umls/relation/R130963459,
http://linkedlifedata.com/resource/umls/relation/R130963458,
http://linkedlifedata.com/resource/umls/relation/R130958478,
http://linkedlifedata.com/resource/umls/relation/R130958477,
http://linkedlifedata.com/resource/umls/relation/R131012968,
http://linkedlifedata.com/resource/umls/relation/R131013024,
http://linkedlifedata.com/resource/umls/relation/R131012986,
http://linkedlifedata.com/resource/umls/relation/R131012989,
http://linkedlifedata.com/resource/umls/relation/R131013055,
http://linkedlifedata.com/resource/umls/relation/R131012969,
http://linkedlifedata.com/resource/umls/relation/R131013071,
http://linkedlifedata.com/resource/umls/relation/R131013003,
http://linkedlifedata.com/resource/umls/relation/R131013072,
http://linkedlifedata.com/resource/umls/relation/R131013015,
http://linkedlifedata.com/resource/umls/relation/R131013016,
http://linkedlifedata.com/resource/umls/relation/R131013083,
http://linkedlifedata.com/resource/umls/relation/R131013004,
http://linkedlifedata.com/resource/umls/relation/R131013017,
http://linkedlifedata.com/resource/umls/relation/R131012981,
http://linkedlifedata.com/resource/umls/relation/R131013007,
http://linkedlifedata.com/resource/umls/relation/R131013076,
http://linkedlifedata.com/resource/umls/relation/R131013020,
http://linkedlifedata.com/resource/umls/relation/R131013077,
http://linkedlifedata.com/resource/umls/relation/R131013023,
http://linkedlifedata.com/resource/umls/relation/R131012978,
http://linkedlifedata.com/resource/umls/relation/R131013006,
http://linkedlifedata.com/resource/umls/relation/R131013025,
http://linkedlifedata.com/resource/umls/relation/R131013026,
http://linkedlifedata.com/resource/umls/relation/R131012982,
http://linkedlifedata.com/resource/umls/relation/R131013049,
http://linkedlifedata.com/resource/umls/relation/R131013065,
http://linkedlifedata.com/resource/umls/relation/R131012998,
http://linkedlifedata.com/resource/umls/relation/R131013050,
http://linkedlifedata.com/resource/umls/relation/R131012974,
http://linkedlifedata.com/resource/umls/relation/R131013030,
http://linkedlifedata.com/resource/umls/relation/R131013019,
http://linkedlifedata.com/resource/umls/relation/R131012972,
http://linkedlifedata.com/resource/umls/relation/R131013009,
http://linkedlifedata.com/resource/umls/relation/R131013039,
http://linkedlifedata.com/resource/umls/relation/R131013090,
http://linkedlifedata.com/resource/umls/relation/R131013066,
http://linkedlifedata.com/resource/umls/relation/R131012970,
http://linkedlifedata.com/resource/umls/relation/R131013084,
http://linkedlifedata.com/resource/umls/relation/R131012976,
http://linkedlifedata.com/resource/umls/relation/R131012999,
http://linkedlifedata.com/resource/umls/relation/R131013013,
http://linkedlifedata.com/resource/umls/relation/R131013091,
http://linkedlifedata.com/resource/umls/relation/R131012991,
http://linkedlifedata.com/resource/umls/relation/R131013038,
http://linkedlifedata.com/resource/umls/relation/R131013012,
http://linkedlifedata.com/resource/umls/relation/R131013075,
http://linkedlifedata.com/resource/umls/relation/R131013088,
http://linkedlifedata.com/resource/umls/relation/R131013011,
http://linkedlifedata.com/resource/umls/relation/R131013040,
http://linkedlifedata.com/resource/umls/relation/R131013041,
http://linkedlifedata.com/resource/umls/relation/R131013056,
http://linkedlifedata.com/resource/umls/relation/R131013042,
http://linkedlifedata.com/resource/umls/relation/R131012975,
http://linkedlifedata.com/resource/umls/relation/R131013008,
http://linkedlifedata.com/resource/umls/relation/R131012996,
http://linkedlifedata.com/resource/umls/relation/R131013092,
http://linkedlifedata.com/resource/umls/relation/R131013044,
http://linkedlifedata.com/resource/umls/relation/R131013089,
http://linkedlifedata.com/resource/umls/relation/R131012967,
http://linkedlifedata.com/resource/umls/relation/R131012973,
http://linkedlifedata.com/resource/umls/relation/R131013046,
http://linkedlifedata.com/resource/umls/relation/R131012977,
http://linkedlifedata.com/resource/umls/relation/R131013052,
http://linkedlifedata.com/resource/umls/relation/R131013064,
http://linkedlifedata.com/resource/umls/relation/R131013053,
http://linkedlifedata.com/resource/umls/relation/R131013001,
http://linkedlifedata.com/resource/umls/relation/R131013054,
http://linkedlifedata.com/resource/umls/relation/R131013032,
http://linkedlifedata.com/resource/umls/relation/R131013060,
http://linkedlifedata.com/resource/umls/relation/R131013061,
http://linkedlifedata.com/resource/umls/relation/R131013087,
http://linkedlifedata.com/resource/umls/relation/R131013047,
http://linkedlifedata.com/resource/umls/relation/R131013045,
http://linkedlifedata.com/resource/umls/relation/R131012994,
http://linkedlifedata.com/resource/umls/relation/R131013000,
http://linkedlifedata.com/resource/umls/relation/R131013031,
http://linkedlifedata.com/resource/umls/relation/R131012979,
http://linkedlifedata.com/resource/umls/relation/R131013069,
http://linkedlifedata.com/resource/umls/relation/R131012983,
http://linkedlifedata.com/resource/umls/relation/R131013029,
http://linkedlifedata.com/resource/umls/relation/R131012987,
http://linkedlifedata.com/resource/umls/relation/R131012995,
http://linkedlifedata.com/resource/umls/relation/R131012984,
http://linkedlifedata.com/resource/umls/relation/R131013037,
http://linkedlifedata.com/resource/umls/relation/R131013014,
http://linkedlifedata.com/resource/umls/relation/R131013018,
http://linkedlifedata.com/resource/umls/relation/R131012990,
http://linkedlifedata.com/resource/umls/relation/R131013082,
http://linkedlifedata.com/resource/umls/relation/R131012985,
http://linkedlifedata.com/resource/umls/relation/R131013062,
http://linkedlifedata.com/resource/umls/relation/R131013010
|