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Fanconi anemia complementation group Q

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.
Uniprot Description 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.
Disease Ontology Description A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
Mondo Term and Equivalent IDs
MONDO:0014108:  Fanconi anemia complementation group Q
UMLS:C3808988: