Term Name: Ghosal hematodiaphyseal syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome