Spondylocarpotarsal Synostosis Syndrome
Disease ID: disease_node_15710
Connections displayed (default: 10).
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| Dbxref | GARD:4974, ICD10CM:Q76.4, MIM:272460, ORDO:3275 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080006, DOID_0060564 |
| Data Source | DOID |
| Synonyms | SCT, congenital scoliosis with unilateral unsegmented bar, congenital synspondylism, spondylocarpotarsal syndrome, spondylocarpotarsal synostosis, vertebral fusion with carpal coalition |
| Disease Has Location | UBERON_0001130 |
| Doid Label | spondylocarpotarsal synostosis syndrome |
| Doid Description | A bone development disease that is 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, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15710 |
| Doid Id | DOID_0090116 |
| Label | Spondylocarpotarsal Synostosis Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Bone Development Disease(ID:disease_node_15615) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spinal Disease(ID:disease_node_14241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)