loading...| Preferred Name | Ataxia Telangiectasia [Disease/Finding] | |
| Synonyms |
Ataxia Telangiectasia Ataxia-Telangiectasia Telangiectasia, Cerebello-Oculocutaneous Louis-Bar Syndrome Ataxia Telangiectasia Syndrome |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000503 |
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| altLabel |
Ataxia Telangiectasia Ataxia-Telangiectasia Telangiectasia, Cerebello-Oculocutaneous Louis-Bar Syndrome Ataxia Telangiectasia Syndrome |
|
| cui |
C0004135 |
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| MESH 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). |
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| MESH DUI |
D001260 |
|
| MeSH name |
Ataxia Telangiectasia |
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| MESH UI |
M0001898 |
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| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000503 |
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| NUI |
N0000000503 |
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| prefLabel |
Ataxia Telangiectasia [Disease/Finding] |
|
| SNOMED CID |
68504005 |
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| tui |
T047 |
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| subClassOf |