1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111094 | Fanconi anemia complementation group N | A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |