gnathodiaphyseal dysplasia (DOID:0111533)
Alliance: disease page
Synonyms: GDD; gnathodiaphyseal sclerosis; Levin syndrome 2; osteogenesis imperfecta with unusual skeletal lesions; osteogenesis imperfecta, Levin type
Alt IDs: OMIM:166260, MESH:C536039, ORDO:53697, UMLS_CUI:C1833736
Definition: An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3.