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
Ehlers-Danlos syndrome spondylodysplastic type 2
Summary
- Synonym
-
- EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
- Ehlers-Danlos syndrome progeroid type
- Definition
- An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0050802
- UMLS
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96L58 | Beta-1,3-galactosyltransferase 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012727 | Thoracic aortic aneurysm |
| HP:0100750 | Atelectasis |
| HP:0008070 | Sparse hair |
| HP:0004233 | Advanced ossification of carpal bones |
| HP:0000175 | Cleft palate |
| HP:0003015 | Flared metaphysis |
| HP:0011341 | Long upper lip |
| HP:0001263 | Global developmental delay |
| HP:0004325 | Decreased body weight |
| HP:0002656 | Epiphyseal dysplasia |
