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Schimke immuno-osseous dysplasia

rare

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

Identifiers
MONDO:0009458 OMIM:242900Orphanet:1830
Causal genes
SMARCAL1
Part of
Immuno-osseous dysplasiaSpondyloepiphyseal dysplasia
Also known as
Schimke immunoosseous dysplasia · Schimke syndrome · SIOD · spondyloepiphyseal dysplasia - nephrotic syndrome · spondyloepiphyseal dysplasia nephrotic syndrome

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