About   Help   FAQ
Disease Ontology Browser
gnathodiaphyseal dysplasia (DOID:0111533)
Alliance: disease page
Synonyms: GDD; gnathodiaphyseal sclerosis; Levin syndrome 2; osteogenesis imperfecta with unusual skeletal lesions; osteogenesis imperfecta, Levin type
Alt IDs: OMIM:166260, MESH:C536039, ORDO:53697, UMLS_CUI:C1833736
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory