OBO ID: DOID:0111542
Term Name: familial expansile osteolysis Search Ontology:
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:
OTHER familial expansile osteolysis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNFRSF11A Osteolysis, familial expansile 174810
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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