1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070275 | hereditary nonpolyposis colorectal cancer type 4 | A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |