disease has basis in dysfunction of SMARCAL1 Schimke immuno-osseous dysplasia DOID:0060490 GARD:0004984 ICD10:Q77.7 IMMUNOOSSEOUS dysplasia, Schimke type MESH:C536629 MONDO:0009458 MedDRA:10048699 NCIT:C135087 OMIM:242900 Orphanet:1830 SCTID:723995003 SIOD Schimke IMMUNOOSSEOUS dysplasia Schimke Immunoosseous dysplasia Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Schimke immunoosseous dysplasia Schimke syndrome UMLS:C0877024 immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome spondyloepiphyseal dysplasia nephrotic syndrome spondyloepiphyseal dysplasia-nephrotic syndrome primary glomerular disease immuno-osseous dysplasia malformative syndrome with dentinogenesis imperfecta spondyloepiphyseal dysplasia hereditary connective tissue disorder