6 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:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| 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:0080690 | RASopathy | A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. |
| DOID:3490 | Noonan syndrome | A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. |
18 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:3490 | DOID:0060578 |
| is_a | DOID:3490 | DOID:0060580 |
| is_a | DOID:3490 | DOID:0060581 |
| is_a | DOID:3490 | DOID:0060582 |
| is_a | DOID:3490 | DOID:0060583 |
| is_a | DOID:3490 | DOID:0060584 |
| is_a | DOID:3490 | DOID:0060585 |
| is_a | DOID:3490 | DOID:0060586 |
| is_a | DOID:3490 | DOID:0060587 |
| is_a | DOID:3490 | DOID:0060588 |
| is_a | DOID:3490 | DOID:0112161 |
| is_a | DOID:3490 | DOID:0112169 |
| is_a | DOID:3490 | DOID:0112170 |
| is_a | DOID:0050177 | DOID:3490 |
| is_a | DOID:0080690 | DOID:3490 |
| is_a | DOID:225 | DOID:3490 |
| is_a | DOID:4 | DOID:3490 |
| is_a | DOID:630 | DOID:3490 |
