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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:0003414 | Atlantoaxial dislocation |
| HP:0004568 | Beaking of vertebral bodies |
| HP:0004970 | Ascending tubular aorta aneurysm |
| HP:0004993 | Slender long bones with narrow diaphyses |
| HP:0005008 | Large joint dislocations |
| HP:0005280 | Depressed nasal bridge |
| HP:0005678 | Anterior atlanto-occipital dislocation |
| HP:0006243 | Phalangeal dislocation |
| HP:0006487 | Bowing of the long bones |
| HP:0006522 | Repeated pneumothoraces |
