| 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/21240275, https://www.ncbi.nlm.nih.gov/pubmed/21240277 |
| Xrefs | |
| Synonyms |
FANCP [EXACT] |
| Parent Relationships |
is_a Fanconi anemia |