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| Term | familial expansile osteolysis | ID (Ontology) | DOID:0111542 (Human Disease) |
| 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. | ||
| Also Known As | "FEO" ; "hereditary expansile polyostotic osteolytic dysplasia" ; "McCabe disease" | ||
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autosomal genetic disease |__autosomal dominant disease__ bone disease | |__bone remodeling disease_____| familial expansile osteolysis |
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autosomal dominant disease bone remodeling disease |
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GARD:9168 MESH:C536335 MIM:174810 ORDO:85195 SNOMEDCT_US_2023_03_01:254153009 UMLS_CUI:C0432292 |
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