_:vb50944346 . _:vb50944347 . _:vb50944346 . "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21."^^ . _:vb50944346 . . "DOID:0111167"^^ . . . "Dyggve-Melchior-Clausen disease"^^ . _:vb50944346 . _:vb50944347 . _:vb50944347 . "OMIM:223800"^^ . . "DMC disease"@en . _:vb50944346 . . "GARD:6295"^^ . "disease_ontology"^^ . "pseudo-Morquio disease type I"@en . _:vb50944347 . _:vb50944347 .