FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term gnathodiaphyseal dysplasia ID (Ontology) DOID:0111533 (Human Disease)
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.
Also Known As "GDD" ; "gnathodiaphyseal sclerosis" ; "Levin syndrome 2" (for all, see Synonyms field below)
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 Genes
 gnathodiaphyseal dysplasia       2
 for disease ribbon | gnathodiaphyseal dysplasia       2
 model of | gnathodiaphyseal dysplasia       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                gnathodiaphyseal dysplasia  2 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
Part of
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Synonyms
  • "GDD" EXACT OMO:0003012
    "gnathodiaphyseal sclerosis" EXACT
    "Levin syndrome 2" EXACT
    "osteogenesis imperfecta with unusual skeletal lesions" EXACT
    "osteogenesis imperfecta, Levin type" EXACT
Secondary IDs
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GARD:8698
MESH:C536039
MIM:166260
ORDO:53697
SNOMEDCT_US_2023_03_01:715568002
UMLS_CUI:C1833736