Spondylocostal Dysostosis 1
Disease ID: disease_node_15610
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:277300 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050568 |
| Data Source | DOID |
| Synonyms | SCDO1, autosomal recessive spondylocostal dysostosis 1 |
| Doid Label | spondylocostal dysostosis 1 |
| Doid Description | A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15610 |
| Doid Id | DOID_0112365 |
| Label | Spondylocostal Dysostosis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Spondylocostal Dysostosis(ID:disease_node_15609) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)