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: immunoosseous dysplasia Schimke type, Schimke immunoosseous dysplasia, Schimke syndrome, spondyloepiphyseal dysplasia - nephrotic syndrome

Xenbase Genes : smarcal1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009458 - Schimke immuno-osseous dysplasia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), spondyloepimetaphyseal dysplasia (is_a)