| Metadata | |
|---|---|
| ID | DOID:0060353 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060353 Copy |
| 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 | |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Micrognathia has phenotype some Malar flattening has material basis in some autosomal dominant inheritance disease has basis in some gene |