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: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:0060340 | ciliopathy | A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. |
93 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060340 | DOID:0050144 |
| is_a | DOID:0060340 | DOID:0050777 |
| is_a | DOID:0060340 | DOID:0050778 |
| is_a | DOID:225 | DOID:0060340 |
| is_a | DOID:0050177 | DOID:0060340 |
| is_a | DOID:4 | DOID:0060340 |
| is_a | DOID:630 | DOID:0060340 |
| is_a | DOID:0060340 | DOID:0060376 |
| is_a | DOID:0060340 | DOID:0070115 |
| is_a | DOID:0060340 | DOID:0070116 |
| is_a | DOID:0060340 | DOID:0070117 |
| is_a | DOID:0060340 | DOID:0070118 |
| is_a | DOID:0060340 | DOID:0070119 |
| is_a | DOID:0060340 | DOID:0070120 |
| is_a | DOID:0060340 | DOID:0070121 |
| is_a | DOID:0060340 | DOID:0070122 |
| is_a | DOID:0060340 | DOID:0080253 |
| is_a | DOID:0060340 | DOID:0080266 |
| is_a | DOID:0060340 | DOID:0080275 |
| is_a | DOID:0060340 | DOID:0080276 |
| is_a | DOID:0060340 | DOID:0080277 |
| is_a | DOID:0060340 | DOID:0080278 |
| is_a | DOID:0060340 | DOID:0080279 |
| is_a | DOID:0060340 | DOID:0110594 |
| is_a | DOID:0060340 | DOID:0110595 |
| is_a | DOID:0060340 | DOID:0110596 |
| is_a | DOID:0060340 | DOID:0110597 |
| is_a | DOID:0060340 | DOID:0110598 |
| is_a | DOID:0060340 | DOID:0110599 |
| is_a | DOID:0060340 | DOID:0110600 |
