Preferred Name | Ataxia telangiectasia | |
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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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ID |
http://purl.obolibrary.org/obo/OMIM_208900 |
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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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cell_cycle_ontology |
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id |
OMIM:208900 |
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label |
Ataxia telangiectasia |
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notation |
OMIM:208900 |
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prefLabel |
Ataxia telangiectasia |
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