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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Disease definition

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

ORPHA:99646

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: -
  • OMIM: 614875
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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