Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0060379 - acrofacial dysostosis

Disease Ontology Definition:A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.

Synonyms:

Xenbase Genes : sf3b4, evc2, evc, polr1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018237 - acrofacial dysostosis


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

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