Human genes for familial expansile osteolysis
Familial expansile osteolysis [DOID:0111542]
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 TNFRSF11A on chromosome 18q21.33.
Synonyms: familial expansile osteolysis, DOID:0111542, hereditary expansile osteolysis, familial expansile osteolysises, hereditary expansile polyostotic osteolytic dysplasia ...