Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96L58 | Beta-1,3-galactosyltransferase 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009836 | Broad distal phalanx of finger |
| HP:0010049 | Short metacarpal |
| HP:0010550 | Paraplegia |
| HP:0011220 | Prominent forehead |
| HP:0011341 | Long upper lip |
| HP:0011800 | Midface retrusion |
| HP:0012368 | Flat face |
| HP:0100864 | Short femoral neck |
