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About: Nager acrofacial dysostosis     Goto   Sponge   NotDistinct   Permalink

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

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • Nager acrofacial dysostosis
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:5768
database_cross_reference
  • GARD:498
  • NCI:C35795
  • OMIM:154400
  • UMLS_CUI:C1332140
has_exact_synonym
  • AFD (en)
  • Nager syndrome (en)
  • acrofacial dysostosis 1, Nager type (en)
  • preaxial acrofacial dysostosis (en)
  • preaxial manibulofacial dysostosis (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
is topic of
is annotatedSource of
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