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Biomedical Informatics Research Network Project Lexicon
Last uploaded:
March 24, 2008
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Id | http://bioontology.org/projects/ontologies/birnlex#birnlex_12649
http://bioontology.org/projects/ontologies/birnlex#birnlex_12649
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Preferred Name | Ataxia Telangiectasia |
Synonyms |
Ataxia Telangiectasia Syndrome|Louis-Bar Syndrome
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
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. The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23) (MeSH). |
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preferred_label |
Ataxia Telangiectasia
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label |
Ataxia Telangiectasia
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prefLabel |
Ataxia Telangiectasia
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external_id_urls | |
synonyms |
Ataxia Telangiectasia Syndrome|Louis-Bar Syndrome
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abbrev | |
retired |
false
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prefixIRI |
birnlex_12649
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external_ids |
meshUID:D001260
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subClassOf | |
class_or_indiv |
true
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type | |
mod_date |
2007-10-05
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