Acrofacial Dysostosis Cincinnati Type
Disease ID: disease_node_15740
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| Dbxref | MIM:616462 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060379 |
| Data Source | DOID |
| Doid Label | acrofacial dysostosis Cincinnati type |
| Doid Description | 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. |
| Has Phenotype | HP_0000272, HP_0000347 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15740 |
| Doid Id | DOID_0060353 |
| Label | Acrofacial Dysostosis Cincinnati Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Acrofacial Dysostosis(ID:disease_node_15738) (Disease)