FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term spondyloepimetaphyseal dysplasia, Li-Shao-Li type ID (Ontology) DOID:0051046 (Human Disease)
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.
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 spondyloepimetaphyseal dysplasia, Li-Shao-Li type       1
 for disease ribbon | spondyloepimetaphyseal dysplasia, Li-Shao-Li type       1
 model of | spondyloepimetaphyseal dysplasia, Li-Shao-Li type       1
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spinal disease_________
osteochondrodysplasia__|
                       spondyloepimetaphyseal dysplasia
                        |__spondyloepimetaphyseal dysplasia, Li-Shao-Li type  1 rec.
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MIM:621099