Term Name: | diaphyseal medullary stenosis with malignant fibrous histiocytoma |
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Synonyms: | bone dysplasia-medullary fibrosarcoma syndrome, diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome, Hardcastle syndrome |
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. |
Ontology: | Human Disease [DOID:0080664] ( DOID:0080664 ) |