1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112198 | spondyloepimetaphyseal dysplasia with joint laxity type 1 | A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:1222 | cartilage disease | A connective tissue disease that is located_in cartilage. |
