_:vb50938535 . _:vb50938535 . _:vb50938535 . _:vb50938535 "url:https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia"^^ . _:vb50938535 "A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q."^^ . _:vb50938535 "url:https://www.ncbi.nlm.nih.gov/pubmed/1216821"^^ . _:vb50938535 . _:vb50938535 . _:vb50938535 .