Chromosome 6Q11-Q14 Deletion Syndrome
Disease ID: disease_node_17100
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| Dbxref | MIM:613544 |
|---|---|
| Subclassof | DOID_0060388 |
| Data Source | DOID |
| Doid Label | chromosome 6q11-q14 deletion syndrome |
| Doid Description | A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. |
| Disease Node Id | disease_node_17100 |
| Doid Id | DOID_0060423 |
| Label | Chromosome 6Q11-Q14 Deletion Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)