gnathodiaphyseal dysplasia

Term ID

DOID:0111533

Synonyms

• GDD
• gnathodiaphyseal sclerosis
• Levin syndrome 2
• 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. (3)

References

• GARD:8698
• MESH:C536039
• OMIM:166260
• ORDO:53697
• SNOMEDCT_US_2023_03_01:715568002
• UMLS_CUI:C1833736

Ontology

Human Disease   ( DOID:0111533 )