Schimke immuno-osseous dysplasia

MONDO:0009458

A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

Also known as: Schimke immuno-osseous dysplasia, Schimke immunoosseous dysplasia, Schimke syndrome, spondyloepiphyseal dysplasia - nephrotic syndrome, spondyloepiphyseal dysplasia-nephrotic syndrome, IMMUNOOSSEOUS dysplasia, Schimke type, SIOD, Schimke IMMUNOOSSEOUS dysplasia

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