OBO ID: DOID:0111533
Term Name: gnathodiaphyseal dysplasia Search Ontology:
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 ANO5 on chromosome11p14.3. (3)
References:
Ontology: Human Disease   (DOID:0111533)
OTHER gnathodiaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ANO5 Gnathodiaphyseal dysplasia 166260
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None