gnathodiaphyseal dysplasia

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ano5

Other Model Organisms: AGR, 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)