Version: 8.0.0
Date: Tue Jan 28 2025
gnathodiaphyseal dysplasia
DOID:0111533
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

gnathodiaphyseal dysplasia

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.
Synonyms
  • GDD
  • gnathodiaphyseal sclerosis
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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