Term Name: | spondyloepimetaphyseal dysplasia, Li-Shao-Li type |
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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 ) |