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Gene Expression Ontology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/227650
http://identifiers.org/omim/227650
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|---|---|
| Preferred Name | Fanconi anemia |
| 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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| Synonyms |
FA
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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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| altLabel |
FA
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| prefLabel |
Fanconi anemia
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| notation |
OMIM:227650
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| id |
OMIM:227650
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| subClassOf | |
| type |
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