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

• GARD:9168
• MESH:C536335
• OMIM:174810
• ORDO:85195
• SNOMEDCT_US_2023_03_01:254153009
• UMLS_CUI:C0432292

Ontology

Human Disease   ( DOID:0111542 )