OBO ID: DOID:0080664
Term Name: diaphyseal medullary stenosis with malignant fibrous histiocytoma Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080664 )
OTHER diaphyseal medullary stenosis with malignant fibrous histiocytoma PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None