1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111092 | Fanconi anemia complementation group P | 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. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |