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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:0001087 | Developmental glaucoma |
| HP:0001156 | Brachydactyly |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001373 | Joint dislocation |
| HP:0001510 | Growth delay |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001513 | Obesity |
| HP:0001762 | Talipes equinovarus |
