OBO ID: DOID:5768
Term Name: Nager acrofacial dysostosis Search Ontology:
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:
Ontology: Human Disease   ( DOID:5768 )
Relationships
is a type of:
OTHER Nager acrofacial dysostosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SF3B4 Acrofacial dysostosis 1, Nager type 154400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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