1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0081319 | multiple synostoses syndrome 3 | A multiple synostoses syndrome that 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 FGF9 gene on chromosome 13q12. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:65 | connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
