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:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0080014 | chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| DOID:0060429 | chromosomal duplication syndrome | A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. |
| DOID:0060853 | Potocki-Lupski syndrome | A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. |
4 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060429 | DOID:0060853 |
| is_a | DOID:0080014 | DOID:0060853 |
| is_a | DOID:630 | DOID:0060853 |
| is_a | DOID:4 | DOID:0060853 |
