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Desbuquois dysplasia
Summary
- Synonym
-
- Desbuquois syndrome
- micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
- Definition
- An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0060462
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 444363 | xylt1.L | xylosyltransferase I L homeolog | Xenopus laevis (African clawed frog) | |
| 100145490 | xylt1 | xylosyltransferase I | Xenopus tropicalis (tropical clawed frog) | |
| 108703114 | xylt1.S | xylosyltransferase I S homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75063 | Glycosaminoglycan xylosylkinase | |
| O95394 | Phosphoacetylglucosamine mutase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q86Y38 | Xylosyltransferase 1 | |
| Q9H1B5 | Xylosyltransferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0000501 | Glaucoma |
| HP:0000520 | Proptosis |
| HP:0000592 | Blue sclerae |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0001249 | Intellectual disability |
| HP:0001382 | Joint hypermobility |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 55790 | CSGALNACT1 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| 64131 | XYLT1 | xylosyltransferase 1 |
