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Fanconi anemia complementation group I
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.
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.
Mondo Term and Equivalent IDs
MONDO:0012186: Fanconi anemia complementation group I
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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:0111091
MESH:C563802
NCIT:C129026
OMIM:609053
UMLS:C1836861
MONDO:0012186
High level summary of knowledge for a disease, including descriptions and datasource references.