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ENSchimke Immunoosseous Dysplasia (SIOD)
Alias:
Schimke Immuno-Osseous Dysplasia
Schimke Syndrome
Immunoosseous Dysplasia, Schimke Type
Siod
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
Spondyloepiphyseal Dysplasia Nephrotic Syndrome
Smarcal1-Related Immuno-Osseous Dysplasia
Immunoosseous Dysplasia Schimke Type
Schimke Type
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Schimke Immunoosseous Dysplasia, also known as schimke immuno-osseous dysplasia, is related to focal segmental glomerulosclerosis and nephrotic syndrome. An important gene associated with Schimke Immunoosseous Dysplasia is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are DNA Damage and BRCA1 Pathway. The drugs Fludarabine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include t cells and kidney, and related phenotypes are short stature and proteinuria
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