14 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:1681 | heart septal defect | |
| DOID:1682 | congenital heart disease | A heart disease that is characterized by problems with the heart's structure that are present at birth. |
| DOID:1882 | atrial heart septal defect | A heart septal defect located_in in the septum that separates the two atria of the heart. |
| DOID:0110113 | atrial heart septal defect 8 | An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0110113 |
| is_a | DOID:1882 | DOID:0110113 |
| is_a | DOID:1287 | DOID:0110113 |
| is_a | DOID:0060118 | DOID:0110113 |
| is_a | DOID:1682 | DOID:0110113 |
| is_a | DOID:1681 | DOID:0110113 |
| is_a | DOID:0080015 | DOID:0110113 |
| is_a | DOID:0050739 | DOID:0110113 |
| is_a | DOID:7 | DOID:0110113 |
| is_a | DOID:114 | DOID:0110113 |
| is_a | DOID:630 | DOID:0110113 |
| is_a | DOID:0050177 | DOID:0110113 |
| is_a | DOID:4 | DOID:0110113 |
