_:vb50941735 . "UMLS_CUI:C1850318"^^ . "ORDO:93329"^^ . "disease_ontology"^^ . "OMIM:258315"^^ . . "omodysplasia 1"@en . _:vb50941735 . _:vb50941735 . _:vb50941735 . _:vb50941735 . "MESH:C537746"^^ . . "DOID:0080844"^^ . "SNOMEDCT_US_2021_09_01:725166005"^^ . "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32."^^ . . .