Search Ontology:
Human Disease

Nager acrofacial dysostosis

Term ID
DOID:5768
Synonyms
  • acrofacial dysostosis 1, Nager type
  • AFD
  • Nager syndrome
  • preaxial acrofacial dysostosis
  • preaxial manibulofacial dysostosis
Definition
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. (3)
References
  • GARD:498
  • MIM:154400
  • NCI:C35795
  • UMLS_CUI:C1332140
Ontology
Human Disease   ( DOID:5768 )
Relationships
is a type of
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Genes Involved
Zebrafish Models