Term Name: diaphyseal medullary stenosis with malignant fibrous histiocytoma
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 )

Relationships
is a type of: autosomal dominant disease osteochondrodysplasia