Term Name: Fanconi anemia complementation group P
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 )

Relationships
is a type of: autosomal recessive disease Fanconi anemia