Term Name: spondyloepimetaphyseal dysplasia, Li-Shao-Li type
Synonyms:
Definition: A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23.
Ontology: Human Disease [DOID:0051046]   ( DOID:0051046 )

Relationships
is a type of: spondyloepimetaphyseal dysplasia