DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease Schimke immuno-osseous dysplasia NCI:C135087 ORDO:1830 SNOMEDCT_US_2025_09_01:723995003 GARD:4984 MIM:242900 disease_ontology DOID:0060490 UMLS_CUI:C0877024 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. MESH:C536629 Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome spondyloepimetaphyseal dysplasia autosomal recessive inheritance