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familial expansile osteolysis
Summary
- Synonym
-
- FEO
- McCabe disease
- hereditary expansile polyostotic osteolytic dysplasia
- Definition
- A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33.
- Super Class
- autosomal dominant disease bone remodeling disease
External Links
- Disease Ontology
- DOID:0111542
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
