Term Name: gnathodiaphyseal dysplasia
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 )

Relationships
is a type of: autosomal dominant disease osteochondrodysplasia