Metadata | |
---|---|
ID | DOID:0111092 |
Name | Fanconi anemia complementation group P |
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. https://www.ncbi.nlm.nih.gov/pubmed/21240277, https://www.ncbi.nlm.nih.gov/pubmed/21240275 |
Xrefs | |
Synonyms |
FANCP [EXACT] |
Parent Relationships |
is_a Fanconi anemia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |