Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111533 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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