Ghosal hematodiaphyseal syndrome (DOID:0112251)
Alliance: disease page
Synonyms: diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia; Ghosal syndrome
Alt IDs: OMIM:231095, ORDO:1802
Definition: 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.