Treacher Collins Syndrome 3
Disease ID: disease_node_19963
Connections displayed (default: 10).
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| Dbxref | MIM:248390 |
|---|---|
| Subclassof | DOID_2908, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Treacher Collins syndrome 3 |
| Doid Description | A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19963 |
| Doid Id | DOID_0080791 |
| Label | Treacher Collins Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mandibulofacial Dysostosis(ID:disease_node_4988) (Disease)