loading...| Preferred Name |
Fanconi anemia |
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| Synonyms |
FA |
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| Definitions |
(FA) - A genetically heterogeneous disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. |
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| ID |
http://identifiers.org/omim/227650 |
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| altLabel |
FA |
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| definition |
(FA) - A genetically heterogeneous disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. |
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| id |
OMIM:227650 |
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| notation |
OMIM:227650 |
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| prefLabel |
Fanconi anemia |
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| subClassOf |