| Ghosal hematodiaphyseal dysplasia (disorder) |
| Ghosal hematodiaphyseal dysplasia |
| Ghosal haematodiaphyseal dysplasia
Ghosal syndrome
Diaphyseal dysplasia anemia syndrome
Diaphyseal dysplasia with anemia
|
| A rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. |
| diafysaire dysplasie met anemie |
| diafysaire dysplasie met bloedarmoede
ziekte van Camurati-Engelmann met anemie
|
