Search Ontology:
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 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models