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DOID:0060490 - Schimke immuno-osseous dysplasia
Disease Ontology 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.
Synonyms: Schimke immunoosseous dysplasia, Schimke syndrome, immunoosseous dysplasia Schimke type, spondyloepiphyseal dysplasia - nephrotic syndrome,
Echinobase Genes : smarcal1
MIM:242900 - immunoosseous dysplasia, schimke type |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee