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Fanconi anemia complementation group B
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
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. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.
Mondo Term and Equivalent IDs
MONDO:0010351: Fanconi anemia complementation group B
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111098
MESH:C564497
NCIT:C125703
OMIM:300514
UMLS:C1845292
MONDO:0010351
High level summary of knowledge for a disease, including descriptions and datasource references.