5 Parents
| Identifier | Name | Description |
|---|---|---|
| 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: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. |
1716 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0050156 |
| is_a | DOID:0050736 | DOID:0050331 |
| is_a | DOID:0050736 | DOID:0050429 |
| is_a | DOID:0050736 | DOID:0050430 |
| is_a | DOID:0050736 | DOID:0050434 |
| is_a | DOID:0050736 | DOID:0050438 |
| is_a | DOID:0050736 | DOID:0050449 |
| is_a | DOID:0050736 | DOID:0050463 |
| is_a | DOID:0050736 | DOID:0050465 |
| is_a | DOID:0050736 | DOID:0050466 |
| is_a | DOID:0050736 | DOID:0050469 |
| is_a | DOID:0050736 | DOID:0050471 |
| is_a | DOID:0050736 | DOID:0050472 |
| is_a | DOID:0050736 | DOID:0050524 |
| is_a | DOID:0050736 | DOID:0050540 |
| is_a | DOID:0050736 | DOID:0050546 |
| is_a | DOID:0050736 | DOID:0050547 |
| is_a | DOID:0050736 | DOID:0050558 |
| is_a | DOID:0050736 | DOID:0050564 |
| is_a | DOID:0050736 | DOID:0050601 |
| is_a | DOID:0050736 | DOID:0050606 |
| is_a | DOID:0050736 | DOID:0050628 |
| is_a | DOID:0050736 | DOID:0050636 |
| is_a | DOID:0050736 | DOID:0050637 |
| is_a | DOID:0050736 | DOID:0050638 |
| is_a | DOID:0050736 | DOID:0050657 |
| is_a | DOID:0050736 | DOID:0050658 |
| is_a | DOID:0050736 | DOID:0050660 |
| is_a | DOID:0050736 | DOID:0050675 |
| is_a | DOID:0050736 | DOID:0050676 |
