_:vb50946444 . "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay."^^ . _:vb50946444 . "OMIM:600093"^^ . "spondyloepiphyseal dysplasia tarda with characteristic facies"^^ . . "DOID:0112289"^^ . . . "disease_ontology"^^ . _:vb50946444 . _:vb50946444 . _:vb50946444 . .