Term Name:	Schimke immuno-osseous dysplasia
Synonyms:	immunoosseous dysplasia Schimke type, Schimke immunoosseous dysplasia, Schimke syndrome, spondyloepiphyseal dysplasia - nephrotic syndrome
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.
Ontology:	Human Disease [DOID:0060490]   ( DOID:0060490 )