"SED with elevated blood lysosomal enzymes"^^ . _:vb50946435 . "disease_ontology"^^ . _:vb50946435 . "OMIM:618392"^^ . . "DOID:0112283"^^ . _:vb50946435 . _:vb50946435 . . "spondyloepiphyseal dysplasia Kondo-Fu type"^^ . "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in MBTPS1 on chromosome 16q23.3-q24.1."^^ . . "SEDKF"^^ . . _:vb50946435 .