Human genes for gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia [DOID:0111533]
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 ANO5 on chromosome11p14.3.
Synonyms: gnathodiaphyseal dysplasia, DOID:0111533, gnathodiaphyseal dysplasias, GDD, gnathodiaphyseal sclerosis ...