Spondyloepimetaphyseal Dysplasia, Strudwick Type
Disease ID: disease_node_15673
Connections displayed (default: 10).
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| Dbxref | GARD:134, MIM:184250, ORDO:93346 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080027 |
| Data Source | DOID |
| Disease Has Location | UBERON_0000975, UBERON_0001130 |
| Doid Label | spondyloepimetaphyseal dysplasia, Strudwick type |
| Doid Description | A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). OMIM mapping confirmed by DO. [SN]. |
| Has Phenotype | HP_0002812, HP_0000926, HP_0003307, HP_0001762, HP_0000768 |
| Has Symptom | SYMP_0000568 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15673 |
| Doid Id | DOID_0080028 |
| Label | Spondyloepimetaphyseal Dysplasia, Strudwick Type |
- Outgoing r'ship
HAS_SYMPTOMto/from Short Stature(ID:disease_node_21459) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spondyloepimetaphyseal Dysplasia(ID:disease_node_15662) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)