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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) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000520 | Proptosis |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0001382 | Joint hypermobility |
| HP:0002999 | Patellar dislocation |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0002812 | Coxa vara |
| HP:0005280 | Depressed nasal bridge |
| HP:0000592 | Blue sclerae |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature |
| HP:0001591 | Bell-shaped thorax |
