Term Name: | Fanconi anemia complementation group L |
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Synonyms: | FANCL |
Definition: | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. |
Ontology: | Human Disease [DOID:0111082] ( DOID:0111082 ) |