diaphyseal medullary stenosis with malignant fibrous histiocytoma

Summary

DOID:0080664 - diaphyseal medullary stenosis with malignant fibrous histiocytoma

Disease Ontology 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.

Synonyms: Hardcastle syndrome, bone dysplasia-medullary fibrosarcoma syndrome, diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mtap

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)