Multiple Synostoses Syndrome 1
Disease ID: disease_node_15745
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| Dbxref | GARD:3836, MIM:186500 |
|---|---|
| Subclassof | DOID_0050794 |
| Data Source | DOID |
| Doid Label | multiple synostoses syndrome 1 |
| Doid Description | A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15745 |
| Doid Id | DOID_0081317 |
| Label | Multiple Synostoses Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Synostoses Syndrome(ID:disease_node_15741) (Disease)