Term Name: | Fanconi anemia complementation group P |
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Synonyms: | FANCP |
Definition: | A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. |
Ontology: | Human Disease [DOID:0111092] ( DOID:0111092 ) |