1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111554 | spondylometaphyseal dysplasia Kozlowski type | A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:17 | musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
