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 )

Relationships
is a type of: autosomal recessive disease bone remodeling disease