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Human Disease

acrofacial dysostosis Cincinnati type

Term ID
DOID:0060353
Synonyms
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
References
Ontology
Human Disease   ( DOID:0060353 )
Relationships
is a type of
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Genes Involved
Zebrafish Models