|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. (Orphanet Rare Disease Ontology, Orphanet_1830)|
|Downloads & Tools|
1 genes associated with the schimke immunoosseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
|SMARCAL1||SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1|