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Metaphyseal chondrodysplasia, Schmid type

Disease definition

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

ORPHA:174

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Infancy
  • ICD-10: Q78.5
  • OMIM: 156500
  • UMLS: C0265289
  • MeSH: C537352
  • GARD: 7029
  • MedDRA: -
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