Term Name: | gnathodiaphyseal dysplasia |
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Synonyms: | GDD, gnathodiaphyseal sclerosis, Levin syndrome 2, osteogenesis imperfecta with unusual skeletal lesions, osteogenesis imperfecta, Levin type |
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. |
Ontology: | Human Disease [DOID:0111533] ( DOID:0111533 ) |