Schimke immuno-osseous dysplasia (DOID:0060490)
Alliance: disease page
Synonyms: immunoosseous dysplasia Schimke type; Schimke immunoosseous dysplasia; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome
Alt IDs: OMIM:242900, MESH:C536629, NCI:C135087, ORDO:1830, UMLS_CUI:C0877024
Definition: 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.