12 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:10273 | heart conduction disease | A cardiovascular system disease that involves the heart's electrical conduction system. |
| DOID:0111073 | progressive familial heart block | A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. |
| DOID:0111074 | progressive familial heart block type IA | A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0111074 |
| is_a | DOID:0111073 | DOID:0111074 |
| is_a | DOID:114 | DOID:0111074 |
| is_a | DOID:0050177 | DOID:0111074 |
| is_a | DOID:10273 | DOID:0111074 |
| is_a | DOID:0060118 | DOID:0111074 |
| is_a | DOID:0050739 | DOID:0111074 |
| is_a | DOID:4 | DOID:0111074 |
| is_a | DOID:7 | DOID:0111074 |
| is_a | DOID:630 | DOID:0111074 |
| is_a | DOID:1287 | DOID:0111074 |
