Term Name: | kyphomelic dysplasia |
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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 ) |