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gnathodiaphyseal dysplasia
Summary
- Synonym
-
- GDD
- Levin syndrome 2
- gnathodiaphyseal sclerosis
- osteogenesis imperfecta with unusual skeletal lesions
- osteogenesis imperfecta, Levin type
- 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.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0111533
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
