Spondyloperipheral Dysplasia
Disease ID: disease_node_15646
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| Dbxref | MIM:271700, ORDO:1856 |
|---|---|
| Subclassof | DOID_2256, DOID_0050736 |
| Data Source | DOID |
| Synonyms | spondyloperipheral dysplasia-short ulna syndrome |
| Doid Label | spondyloperipheral dysplasia |
| Doid Description | An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15646 |
| Doid Id | DOID_0112195 |
| Label | Spondyloperipheral Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)