13 Parents
| Identifier | Name | Description |
|---|---|---|
| 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:0060036 | intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| DOID:0050700 | cardiomyopathy | A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. |
| DOID:2843 | long QT syndrome | An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). |
| DOID:0070533 | long QT syndrome 16 | A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2843 | DOID:0070533 |
| is_a | DOID:0050736 | DOID:0070533 |
| is_a | DOID:630 | DOID:0070533 |
| is_a | DOID:0050177 | DOID:0070533 |
| is_a | DOID:0060036 | DOID:0070533 |
| is_a | DOID:0050700 | DOID:0070533 |
| is_a | DOID:0060118 | DOID:0070533 |
| is_a | DOID:0050739 | DOID:0070533 |
| is_a | DOID:4 | DOID:0070533 |
| is_a | DOID:7 | DOID:0070533 |
| is_a | DOID:1287 | DOID:0070533 |
| is_a | DOID:114 | DOID:0070533 |
