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spondyloepimetaphyseal dysplasia with joint laxity type 1
Summary
- Synonym
-
- SEMDJL1
- spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- Definition
- 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.
- Super Class
- autosomal recessive disease spondyloepimetaphyseal dysplasia with joint laxity
External Links
- Disease Ontology
- DOID:0112198
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 35848 | beta3GalTII | beta-1,3-Galactosyltransferase II |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 548849 | b3galt6 | Beta-1,3-galactosyltransferase 6 | Xenopus tropicalis (tropical clawed frog) | |
| 108696563 | b3galt6.L | Beta-1,3-galactosyltransferase 6 L homeolog | Xenopus laevis (African clawed frog) | |
| 108697636 | b3galt6.S | Beta-1,3-galactosyltransferase 6 S homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001371 | Flexion contracture |
| HP:0001382 | Joint hypermobility |
| HP:0001547 | Abnormal rib cage morphology |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001647 | Bicuspid aortic valve |
| HP:0001653 | Mitral regurgitation |
| HP:0001762 | Talipes equinovarus |
