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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:0000470 | Short neck |
| HP:0003042 | Elbow dislocation |
| HP:0200055 | Small hand |
| HP:0002974 | Radioulnar synostosis |
| HP:0001249 | Intellectual disability |
| HP:0008070 | Sparse hair |
| HP:0000501 | Glaucoma |
| HP:0003510 | Severe short stature |
| HP:0002650 | Scoliosis |
| HP:0000007 | Autosomal recessive inheritance |
