Treacher Collins Syndrome 4
Disease ID: disease_node_19962
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| Dbxref | MIM:618939 |
|---|---|
| Subclassof | DOID_2908 |
| Data Source | DOID |
| Doid Label | Treacher Collins syndrome 4 |
| Doid Description | A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. |
| Disease Node Id | disease_node_19962 |
| Doid Id | DOID_0080792 |
| Label | Treacher Collins Syndrome 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Mandibulofacial Dysostosis(ID:disease_node_4988) (Disease)