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
Displaying all 5 entries
Gene ID Gene Symbol Description Source
5238 PGM3 phosphoglucomutase 3
9469 CHST3 carbohydrate sulfotransferase 3
9917 FAM20B FAM20B glycosaminoglycan xylosylkinase
64131 XYLT1 xylosyltransferase 1
64132 XYLT2 xylosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
233781 Xylt1 xylosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
64133 Xylt1 xylosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38288 oxt peptide O-xylosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
560951 xylt1 xylosyltransferase I
Displaying all 3 entries
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)
Displaying 1 entry
Gene ID Gene Symbol Description Source
190099 sqv-6 Xylosyltransferase sqv-6;protein xylosyltransferase
The Human Phenotype Ontology
Displaying entries 41 - 50 of 73 in total
HPO ID HPO Term
HP:0000750 Delayed speech and language development
HP:0000767 Pectus excavatum
HP:0000768 Pectus carinatum
HP:0000774 Narrow chest
HP:0000894 Short clavicles
HP:0000926 Platyspondyly
HP:0000954 Single transverse palmar crease
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001511 Intrauterine growth retardation
Displaying all 2 entries
Gene ID Gene Symbol Description
55790 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
64131 XYLT1 xylosyltransferase 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024