Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
DOID:5768 - Nager acrofacial dysostosis

Disease Ontology 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.

Synonyms: AFD, Nager syndrome, acrofacial dysostosis 1, Nager type, preaxial acrofacial dysostosis, preaxial manibulofacial dysostosis,

Echinobase Genes : sf3b4


OMIM:
MIM:154400 - acrofacial dysostosis 1, nager type; afd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): acrofacial dysostosis (is_a)