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Schimke immuno-osseous dysplasia

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Schimke syndrome
    • Spondyloepiphyseal dysplasia-nephrotic syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.7
  • OMIM: 242900
  • UMLS: C0877024
  • MeSH: C536629
  • GARD: 4984
  • MedDRA: 10048699

Detailed information


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