Spondylocostal Dysostosis 5
Disease ID: disease_node_15608
Connections displayed (default: 10).
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| Dbxref | MIM:122600 |
|---|---|
| Subclassof | DOID_0050739, DOID_0050568 |
| Data Source | DOID |
| Synonyms | SCDO5 |
| Doid Label | spondylocostal dysostosis 5 |
| Doid Description | A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_15608 |
| Doid Id | DOID_0112363 |
| Label | Spondylocostal Dysostosis 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Spondylocostal Dysostosis(ID:disease_node_15609) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease)