Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Disease ID: disease_node_17148
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| Dbxref | GARD:10740, MIM:611913, ORDO:261197, UMLS_CUI:C3150154, UMLS_CUI:C4273657 |
|---|---|
| Subclassof | DOID_0060388 |
| Data Source | DOID |
| Synonyms | Proximal 16p11.2 microdeletion syndrome |
| Doid Label | chromosome 16p11.2 deletion syndrome, 593-kb |
| Doid Description | A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). |
| Disease Node Id | disease_node_17148 |
| Doid Id | DOID_0070515 |
| Label | Chromosome 16P11.2 Deletion Syndrome, 593-Kb |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)