Term Name: | Fanconi anemia complementation group J |
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Synonyms: | FANCJ |
Definition: | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. |
Ontology: | Human Disease [DOID:0111097] ( DOID:0111097 ) |