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
|OMIM:242900 - SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : smarcal1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): spondyloepimetaphyseal dysplasia (is_a)