| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. (Orphanet Rare Disease Ontology, Orphanet_3275) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C535780 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Spondylocarpotarsal synostosis from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| FLNB | filamin B, beta | 2.88009 |
