1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112200 | spondyloepimetaphyseal dysplasia with joint laxity type 3 | A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:65 | connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
