schimke immunoosseous dysplasia Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
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1 genes associated with the schimke immunoosseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1