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Ghosal hematodiaphyseal dysplasia
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
ORPHA:1802Classification level: Disorder
The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin.
GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase).
GHDD is transmitted as an autosomal recessive trait.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)
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