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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • gnathodiaphyseal dysplasia
described by
id
  • DOID:0111533
database_cross_reference
  • GARD:8698
  • MESH:C536039
  • OMIM:166260
  • ORDO:53697
  • SNOMEDCT_US_2021_09_01:715568002
  • UMLS_CUI:C1833736
has_exact_synonym
  • GDD (en)
  • Levin syndrome 2 (en)
  • gnathodiaphyseal sclerosis (en)
  • osteogenesis imperfecta, Levin type (en)
  • osteogenesis imperfecta with unusual skeletal lesions (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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