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diaphyseal medullary stenosis with malignant fibrous histiocytoma
Summary
- Synonym
-
- Hardcastle syndrome
- bone dysplasia-medullary fibrosarcoma syndrome
- diaphyseal medullary stenosis-malignant fibrous histiocytoma 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.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080664
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003676 | Progressive |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0005010 | Osteomyelitis leading to amputation due to slow healing fractures |
| HP:0002979 | Bowing of the legs |
| HP:0012315 | Histiocytoma |
| HP:0000978 | Bruising susceptibility |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0100254 | Stenosis of the medullary cavity of the long bones |
| HP:0002669 | Osteosarcoma |
| HP:0003690 | Limb muscle weakness |
