bone dysplasia-medullary fibrosarcoma syndromeHardcastle syndromediaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.