Treacher Collins Syndrome 2
Disease ID: disease_node_19964
Connections displayed (default: 10).
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| Dbxref | MIM:613717 |
|---|---|
| Subclassof | DOID_2908, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Treacher Collins syndrome 2 |
| Doid Description | A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_19964 |
| Doid Id | DOID_0080790 |
| Label | Treacher Collins Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Mandibulofacial Dysostosis(ID:disease_node_4988) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)