| Term Name: | kyphomelic dysplasia |
|---|---|
| Synonyms: | pseudocampomelia |
| Definition: | A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23. |
| Ontology: | Human Disease [DOID:0061155] ( DOID:0061155 ) |