| Metadata | |
|---|---|
| ID | DOID:0111094 |
| Name | Fanconi anemia complementation group N |
| Definition | A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. https://www.ncbi.nlm.nih.gov/pubmed/17200671, https://www.ncbi.nlm.nih.gov/pubmed/17200672 |
| Xrefs | |
| Synonyms |
FANCN [EXACT] |
| Parent Relationships |
is_a Fanconi anemia is_a monogenic disease |