1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080137 | multiple endocrine neoplasia type 4 | A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |