Search Ontology:
Human Disease

familial expansile osteolysis

Term ID
DOID:0111542
Synonyms
  • FEO
  • hereditary expansile polyostotic osteolytic dysplasia
  • McCabe 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. (3)
References
Ontology
Human Disease   ( DOID:0111542 )
Relationships
is a type of
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Genes Involved
Zebrafish Models