(Q17122800)

English

Desbuquois dysplasia

osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx

Desbuquois syndrome
micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

In more languages

edit

Statements

0 references

0 references

osteochondrodysplasia

1 reference

29 November 2020

2 references

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000103489/Orphanet_1425

based on heuristic

inferred from an Open Targets association score over 0.7

CANT1

2 references

stated in

Identification of CANT1 mutations in Desbuquois dysplasia

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000171302/Orphanet_1425

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C124056

1 reference

28 August 2019

http://purl.obolibrary.org/obo/DOID_0060462

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0060462

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_1425

0 references

Identifiers

1 reference

28 August 2019

0 references

1 reference

29 November 2020

1 reference

28 August 2019

Google Knowledge Graph ID

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

0 references

Sitelinks

Wikipedia(1 entry)

dewiki Desbuquois-Syndrom

(Q17122800)

Desbuquois dysplasia

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)