_:vb50941935 . _:vb50941935 . _:vb50941935 . "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22."^^ . . . "disease_ontology"^^ . . _:vb50941935 . "anauxetic dysplasia 2"^^ . "DOID:0080962"^^ . _:vb50941935 . "OMIM:617396"^^ . .