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About: osteoglophonic dysplasia     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • osteoglophonic dysplasia
described by
id
  • DOID:0111532
database_cross_reference
  • GARD:4142
  • MESH:C536050
  • OMIM:166250
  • ORDO:2645
  • SNOMEDCT_US_2021_09_01:254144002
  • UMLS_CUI:C0432283
has_exact_synonym
  • Fairbank-Keats syndrome (en)
  • OGD (en)
  • osteoglophonic dwarfism (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23.
is topic of
is annotatedSource of
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