"NCI:C135087"^^ . . _:vb50938926 . "immunoosseous dysplasia Schimke type"@en . _:vb50938926 . "Schimke immunoosseous dysplasia"@en . "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."^^ . "Schimke syndrome"@en . . _:vb50938926 . "ORDO:1830"^^ . "SNOMEDCT_US_2021_09_01:723995003"^^ . . "Schimke immuno-osseous dysplasia"@en . . "UMLS_CUI:C0877024"^^ . "MESH:C536629"^^ . "GARD:4984"^^ . _:vb50938926 . . "DOID:0060490"^^ . _:vb50938926 . "OMIM:242900"^^ . "disease_ontology"^^ . "spondyloepiphyseal dysplasia - nephrotic syndrome"@en . .