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Metadata
ID	DOID:0060353
Name	acrofacial dysostosis Cincinnati type
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. https://www.ncbi.nlm.nih.gov/pubmed/25913037
Xrefs	MIM:616462
Parent Relationships	is_a autosomal dominant disease is_a acrofacial dysostosis
Subclass Logical Relationships	has phenotype some Micrognathia has phenotype some Malar flattening has material basis in some autosomal dominant inheritance