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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
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q86Y38 | Xylosyltransferase 1 | |
| Q8WVQ1 | Soluble calcium-activated nucleotidase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8VCF1 | Soluble calcium-activated nucleotidase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001591 | Bell-shaped thorax |
| HP:0001629 | Ventricular septal defect |
| HP:0002650 | Scoliosis |
| HP:0002673 | Coxa valga |
| HP:0002812 | Coxa vara |
| HP:0002816 | Genu recurvatum |
| HP:0002974 | Radioulnar synostosis |
| HP:0002999 | Patellar dislocation |
| HP:0003042 | Elbow dislocation |
| HP:0003366 | Abnormal femoral neck/head morphology |
