Treacher Collins Syndrome 1
Disease ID: disease_node_19965
Connections displayed (default: 10).
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| Dbxref | MIM:154500 |
|---|---|
| Subclassof | DOID_2908 |
| Data Source | DOID |
| Doid Label | Treacher Collins syndrome 1 |
| Doid Description | A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19965 |
| Doid Id | DOID_0080789 |
| Label | Treacher Collins Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Mandibulofacial Dysostosis(ID:disease_node_4988) (Disease)