Term Name: | Ghosal hematodiaphyseal syndrome |
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Synonyms: | diaphyseal dysplasia-anemia syndrome, Ghosal hematodiaphyseal dysplasia, Ghosal syndrome |
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. |
Ontology: | Human Disease [DOID:0112251] ( DOID:0112251 ) |