Ghosal hematodiaphyseal dysplasia

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Ghosal hematodiaphyseal dysplasia

A rare autosomal recessive disorder (OMIM:231095) characterised by increased bone density, primarily of the diaphysis and aregenerative corticosteroid-sensitive anaemia.
 
Molecular pathology
 Defects of TBXAS1, which encodes a member of the cytochrome P450 monooxygenase that converts prostglandin H2 to thromboxane A2, cause Ghosal haematodiaphyseal dysplasia.