loading...| Preferred Name |
Fanconi anemia complementation group D2 |
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| Synonyms |
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| Definitions |
(FANCD2): A 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://purl.obolibrary.org/obo/OMIM_227646 |
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| definition |
(FANCD2): A 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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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:227646 |
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| label |
Fanconi anemia complementation group D2 |
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| notation |
OMIM:227646 |
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| prefLabel |
Fanconi anemia complementation group D2 |
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