Worth syndrome

Term ID

DOID:0080037

Synonyms

• autosomal dominant endosteal hyperostosis
• autosomal dominant osteosclerosis
• benign form of Worth hyperostosis corticalis generalisata with torus platinus
• Worth's syndrome

Definition

A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. (4)

References

• GARD:390
• MESH:C536748
• MIM:144750
• ORDO:2790
• SNOMEDCT_US_2023_03_01:254131007
• UMLS_CUI:C0432273

Ontology

Human Disease   ( DOID:0080037 )