Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Disease ID: disease_node_15686
Connections displayed (default: 10).
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| Dbxref | MIM:143095 |
|---|---|
| Subclassof | DOID_0080015, DOID_0112280 |
| Data Source | DOID |
| Synonyms | CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS, CHST3-Related Skeletal Dysplasia, Humero-spinal dysostosis with congenital heart disease, Kozlowski Celermajer Tink syndrome, Omani Type, Spondyloepiphyseal Dysplasia, humero-spinal dysostosis, humerospinal dysostosis |
| Disease Has Location | UBERON_0000982 |
| Doid Label | spondyloepiphyseal dysplasia with congenital joint dislocations |
| Doid Description | A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. |
| Disease Node Id | disease_node_15686 |
| Doid Id | DOID_0050813 |
| Disease Has Basis In | HP_0001197 |
| Label | Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
- Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spondyloepiphyseal Dysplasia(ID:disease_node_15684) (Disease)