"MESH:C564794"^^ . "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"^^ . . _:vb50946266 . "SMED short limb-hand type"^^ . "spondylometaepiphyseal dysplasia short limb-hand type"^^ . "GARD:10616"^^ . "disease_ontology"^^ . "SMED type 2"^^ . . "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3."^^ . "spondylometaepiphyseal dysplasia, short limb-hand type"^^ . . "SMED short limb-abnormal calcification type"^^ . "SMED-SL/AC"^^ . "DOID:0112196"^^ . "ORDO:93358"^^ . . _:vb50946266 . _:vb50946266 . "SMED, type II"^^ . _:vb50946266 . "UMLS_CUI:C1849011"^^ . "OMIM:271665"^^ . _:vb50946266 . "SMED-SL"^^ .