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spondyloepiphyseal dysplasia with congenital joint dislocations
Summary
- Synonym
-
- CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
- CHST3-Related Skeletal Dysplasia
- Humero-spinal dysostosis with congenital heart disease
- Kozlowski Celermajer Tink syndrome
- Omani Type
- Spondyloepiphyseal Dysplasia
- humero-spinal dysostosis
- humerospinal dysostosis
- Definition
- A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
- Super Class
- physical disorder spondyloepiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0050813
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100492673 | chst3 | carbohydrate (chondroitin 6) sulfotransferase 3 | Xenopus tropicalis (tropical clawed frog) | |
| 108696269 | chst3.L | carbohydrate (chondroitin 6) sulfotransferase 3 L homeolog | Xenopus laevis (African clawed frog) | |
| 108697511 | chst3.S | carbohydrate (chondroitin 6) sulfotransferase 3 S homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002515 | Waddling gait |
| HP:0003037 | Enlarged joints |
| HP:0001156 | Brachydactyly |
| HP:0009811 | Abnormality of the elbow |
| HP:0002829 | Arthralgia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000365 | Hearing impairment |
| HP:0000470 | Short neck |
| HP:0000687 | Widely spaced teeth |
