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Summary Literature (0)
DOID:0060353 - acrofacial dysostosis Cincinnati type

Disease Ontology Definition:An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.

Synonyms:

Xenbase Genes : polr1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014651 - acrofacial dysostosis Cincinnati type


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

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