" /> Familial expansile osteolysis - CISMeF





Preferred Label : Familial expansile osteolysis;

Symbol : FEO;

CISMeF acronym : EOF; FEO; HEPOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polyostotic osteolytic dysplasia, hereditary expansile; Mccabe disease; Expansile osteolysis, familial; HEPOD; EOF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 11A gene (TNFRSF11A, 603499.0001);

Laboratory abnormalities : Elevated serum alkaline phosphatase; Elevated urinary hydroxyproline;

Prefixed ID : #174810;

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02/05/2025


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