Chromosome 16P11.2 Deletion Syndrome, 220-Kb
Disease ID: disease_node_17111
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| Dbxref | MIM:613444, ORDO:261222, UMLS_CUI:C3150701, UMLS_CUI:C4518824 |
|---|---|
| Subclassof | DOID_0060388 |
| Data Source | DOID |
| Synonyms | distal 16p11.2 microdeletion syndrome |
| Doid Label | chromosome 16p11.2 deletion syndrome, 220-kb |
| Doid Description | 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. |
| Disease Node Id | disease_node_17111 |
| Doid Id | DOID_0060398 |
| Label | Chromosome 16P11.2 Deletion Syndrome, 220-Kb |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)