DO_rare_slim has material basis in autosomal recessive disease spondyloepimetaphyseal dysplasia spondylometaepiphyseal dysplasia, short limb-hand type UMLS_CUI:C1849011 MIM:271665 GARD:10616 DOID:0112196 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 the DDR2 gene on chromosome 1q23.3. ORDO:93358 MESH:C564794 SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC disease_ontology spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type autosomal recessive inheritance