16 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:178 | vascular disease | A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. |
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:1287 | cardiovascular system disease | A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. |
| DOID:114 | heart disease | A cardiovascular system disease that involves the heart. |
| DOID:0060118 | thoracic disease | A disease of anatomical entity that is located_in the thoracic cavity. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| 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. |
| 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. |
| DOID:0050828 | artery disease | A vascular disease that is located_in an artery. |
| DOID:4079 | heart valve disease | A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). |
| DOID:62 | aortic valve disease | A heart valve disease that is located_in the aortic valve. |
| DOID:0080332 | bicuspid aortic valve disease | An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. |
| DOID:520 | aortic disease | An artery disease that is characterized by degeneration of the cells composing the aortic wall. |
| DOID:0080334 | aortic valve disease 2 | A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. |
15 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080332 | DOID:0080334 |
| is_a | DOID:0050736 | DOID:0080334 |
| is_a | DOID:0050177 | DOID:0080334 |
| is_a | DOID:0060118 | DOID:0080334 |
| is_a | DOID:4079 | DOID:0080334 |
| is_a | DOID:1287 | DOID:0080334 |
| is_a | DOID:62 | DOID:0080334 |
| is_a | DOID:520 | DOID:0080334 |
| is_a | DOID:630 | DOID:0080334 |
| is_a | DOID:178 | DOID:0080334 |
| is_a | DOID:7 | DOID:0080334 |
| is_a | DOID:4 | DOID:0080334 |
| is_a | DOID:114 | DOID:0080334 |
| is_a | DOID:0050828 | DOID:0080334 |
| is_a | DOID:0050739 | DOID:0080334 |
