1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112154 | inflammatory bowel disease 30 | An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. |
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. |
