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DO Term : gnathodiaphyseal dysplasia [DOID:0111533] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • osteogenesis imperfecta with unusual skeletal lesions,
  • ORDO:53697,
  • 166260,
  • osteogenesis imperfecta, Levin type,
  • OMIM:166260,
  • Levin syndrome 2,
  • gnathodiaphyseal sclerosis,
  • UMLS_CUI:C1833736,
  • GARD:8698,
  • GDD,
  • SNOMEDCT_US_2023_03_01:715568002,
  • MESH:C536039
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents