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Human Disease
Fanconi anemia complementation group P
- Term ID
- DOID:0111092
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0111092 )
- is a type of
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