"acrofacial dysostosis Cincinnati type"^^ . . _:vb50938699 . _:vb50938700 . "DOID:0060353"^^ . _:vb50938701 . _:vb50938700 . "OMIM:616462"^^ . _:vb50938699 . _:vb50938700 . _:vb50938699 . _:vb50938701 . _:vb50938701 . _:vb50938700 . _:vb50938699 . _:vb50938701 . "2015-07-15T16:37:59Z"^^ . "elvira"^^ . _:vb50938700 . _:vb50938699 . "disease_ontology"^^ . . . "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11."^^ . . _:vb50938701 .