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Ghosal hematodiaphyseal dysplasia

Disease definition

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

ORPHA:1802

  • Synonym(s):
    • Diaphyseal dysplasia-anemia syndrome
    • Ghosal syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 231095
  • UMLS: C1856465
  • MeSH: -
  • GARD: 10297
  • MedDRA: -

Additional information

Further information on this disease

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