Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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: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 |
