Fanconi anemia complementation group P

Term ID

DOID:0111092

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. (2)

References

• OMIM:613951

Ontology

Human Disease   ( DOID:0111092 )