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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:0002756 | Pathologic fracture |
| HP:0003701 | Proximal muscle weakness |
| HP:0000977 | Soft skin |
| HP:0007819 | Presenile cataracts |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000938 | Osteopenia |
| HP:0005045 | Diaphyseal cortical sclerosis |
| HP:0003084 | Fractures of the long bones |
| HP:0100244 | Fibrosarcoma |
| HP:0002216 | Premature graying of hair |
