diaphyseal medullary stenosis with malignant fibrous histiocytoma

Term ID

DOID:0080664

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. (2)

References

• GARD:10072
• MESH:C536169
• MIM:112250
• NCI:C122660
• ORDO:85182

Ontology

Human Disease   ( DOID:0080664 )