Chromosome 16P11.2 Duplication Syndrome
Disease ID: disease_node_19224
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| Dbxref | ICD10CM:Q92.3, MIM:614671, ORDO:370079 |
|---|---|
| Subclassof | DOID_0060429 |
| Data Source | DOID |
| Synonyms | proximal 16p11.2 microduplication syndrome, proximal dup(16)(p11.2), proximal trisomy 16p11.2 |
| Doid Label | chromosome 16p11.2 duplication syndrome |
| Doid Description | A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. |
| Disease Node Id | disease_node_19224 |
| Doid Id | DOID_0060430 |
| Label | Chromosome 16P11.2 Duplication Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Duplication Syndrome(ID:disease_node_13621) (Disease)