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Summary Literature (0)
DOID:0111533 - gnathodiaphyseal dysplasia

Disease Ontology 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.

Synonyms: GDD, gnathodiaphyseal sclerosis, Levin syndrome 2, osteogenesis imperfecta, Levin type, osteogenesis imperfecta with unusual skeletal lesions

Xenbase Genes : ano5



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)