"SEDK"^^ . _:vb50946433 . "OMIM:608361"^^ . _:vb50946433 . "spondyloepiphyseal dysplasia Kimberley type"^^ . _:vb50946433 . _:vb50946433 . "disease_ontology"^^ . . "DOID:0112282"^^ . . "UMLS_CUI:C1842149"^^ . "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in ACAN on chromosome 15q26.1."^^ . "MESH:C564252"^^ . . _:vb50946433 . "SNOMEDCT_US_2021_09_01:719203001"^^ . . "ORDO:93283"^^ .