loading...| Preferred Name | Ataxia Telangiectasia | |
| Synonyms |
Ataxia Telangiectasia Syndrome|Louis-Bar Syndrome |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12649 |
|
| abbrev | ||
| class_or_indiv |
true |
|
| 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). |
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D001260 |
|
| external_ids |
meshUID:D001260 |
|
| label |
Ataxia Telangiectasia |
|
| mod_date |
2007-10-05 |
|
| preferred_label |
Ataxia Telangiectasia |
|
| prefixIRI |
birnlex_12649 |
|
| prefLabel |
Ataxia Telangiectasia |
|
| retired |
false |
|
| synonyms |
Ataxia Telangiectasia Syndrome|Louis-Bar Syndrome |
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12648 |