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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/208900
http://identifiers.org/omim/208900
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|---|---|
| Preferred Name | Ataxia telangiectasia |
| Definitions |
(AT) - A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer - about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.
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| Synonyms |
AT
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (AT) - A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer - about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. |
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| altLabel |
AT
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| prefLabel |
Ataxia telangiectasia
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| notation |
OMIM:208900
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| id |
OMIM:208900
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| subClassOf | |
| type |
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