"DOID:0080963"^^ . . "disease_ontology"^^ . "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13."^^ . _:vb50941937 . _:vb50941937 . _:vb50941937 . . . . "anauxetic dysplasia 3"^^ . "OMIM:618853"^^ . _:vb50941937 . _:vb50941937 .