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:0060388 | chromosomal deletion syndrome | A chromosomal disease that has_material_basis_in partial deletion of chromosomes. |
| DOID:0080014 | chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| DOID:0060398 | chromosome 16p11.2 deletion syndrome, 220-kb | A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. |
4 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060388 | DOID:0060398 |
| is_a | DOID:4 | DOID:0060398 |
| is_a | DOID:630 | DOID:0060398 |
| is_a | DOID:0080014 | DOID:0060398 |
