Multiple Synostoses Syndrome 2
Disease ID: disease_node_15744
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| Dbxref | GARD:9916, MIM:610017 |
|---|---|
| Subclassof | DOID_0050794 |
| Data Source | DOID |
| Doid Label | multiple synostoses syndrome 2 |
| Doid Description | A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine, characteristic facies, including a broad hemicylindrical nose, and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15744 |
| Doid Id | DOID_0081318 |
| Label | Multiple Synostoses Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Synostoses Syndrome(ID:disease_node_15741) (Disease)