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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 ANO5 on chromosome11p14.3.


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)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory