Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Disease ID: disease_node_15666
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:271640 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112197 |
| Data Source | DOID |
| Synonyms | SEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| Doid Label | spondyloepimetaphyseal dysplasia with joint laxity type 1 |
| Doid Description | A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15666 |
| Doid Id | DOID_0112198 |
| Label | Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)