| Metadata | |
|---|---|
| ID | DOID:0080664 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080664 Copy |
| Name | diaphyseal medullary stenosis with malignant fibrous histiocytoma |
| 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. https://pubmed.ncbi.nlm.nih.gov/8781110, https://www.ncbi.nlm.nih.gov/pubmed/22464254 |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
bone dysplasia-medullary fibrosarcoma syndrome [EXACT] diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome [EXACT] Hardcastle syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |