diaphyseal medullary stenosis with malignant fibrous histiocytoma (DOID:0080664)
Alliance: disease page
Synonyms: bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; Hardcastle syndrome
Alt IDs: OMIM:112250, MESH:C536169, NCI:C122660, ORDO:85182
Definition: An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.