Human genes for Ghosal hematodiaphyseal syndrome
Ghosal hematodiaphyseal syndrome [DOID:0112251]
A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.
Synonyms: Ghosal hematodiaphyseal syndrome, DOID:0112251, Ghosal hematodiaphyseal disease, Ghosal hematodiaphyseal disorder, Ghosal hematodiaphyseal syndromes ...