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Summary Literature (5)
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

In OMIM:
OMIM:154400 - ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

In Mondo Disease Ontology:
MONDO:0007943 - Nager acrofacial dysostosis

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sf3b4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): acrofacial dysostosis (is_a)