Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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

Referenced OMIM:
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)


Xenbase: The Xenopus laevis and X. tropicalis resource.
Version: 4.11.2


Major funding for Xenbase is provided by grant P41 HD064556