(Q378183)

genome-wide association study

0 references

TAS

1 reference

reference URL

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_2340&ncbiId=27241

http://www.genome.gov/gwastudies/index.cfm?gene=BBS9

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Phenocarta

20 February 2020

TWIST1

1 reference

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

TCF12

1 reference

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

SKI

1 reference

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

ERF

1 reference

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

MSX2

1 reference

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

FGFR2

1 reference

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0015469

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

0 references

0.000045

2015

1 reference

http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf

23 August 2015

ICPC 2 ID

L82

1 reference

Spanish Wikipedia

NCI Thesaurus ID

C84655

1 reference

15 May 2019

C84655

mapping relation type

exact match

1 reference

http://purl.obolibrary.org/obo/DOID_2340

7 August 2018

1 reference

30 November 2020

http://identifiers.org/doid/DOID:2340

1 reference

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

Identifiers.org

reference URL

http://purl.obolibrary.org/obo/HP_0000243

1 reference

8 October 2018

http://purl.obolibrary.org/obo/HP_0000262

1 reference

8 October 2018

http://purl.obolibrary.org/obo/HP_0000263

1 reference

8 October 2018

http://purl.obolibrary.org/obo/HP_0001363

1 reference

8 October 2018

http://www.orpha.net/ORDO/Orphanet_1531

0 references

Commons category

Craniosynostosis

0 references

Identifiers

MeSH descriptor ID

D003398

subject named as

Craniosynostoses

5 references

15 May 2019

8 October 2018

8 October 2018

8 October 2018

8 October 2018

MeSH tree code

C05.116.099.370.894.232

0 references

0 references

0 references

0 references

0 references

1 reference

PatientsLikeMe condition ID

English Wikipedia

0 references

0 references

1 reference

National Central Library of Florence

1 reference

30 November 2020

1 reference

0 references

1 reference

Encyclopædia Britannica Online ID

English Wikipedia

science/craniosynostosis

subject named as

craniosynostosis

0 references

Encyclopædia Universalis ID

craniosynostoses

0 references

Encyclopedia of China (Third Edition) ID

0 references

1 reference

28 October 2013

1 reference

15 May 2019

1 reference

English Wikipedia

1 reference

8 October 2018

1 reference

8 October 2018

1 reference

8 October 2018

1 reference

8 October 2018

2 references

15 May 2019

https://docs.openalex.org/download-snapshot/snapshot-data-format

7 August 2018

0 references

LB70.0

Craniosynostosis

0 references

0 references

1 reference

9 July 2020

Microsoft Academic ID

0 references

0 references

0 references

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

26 January 2022

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

15 May 2019

mapping relation type

exact match

1 reference

UK Parliament thesaurus ID

7 August 2018

1 reference

433669

subject named as

Craniosynostosis

0 references

2 references

15 May 2019

8 October 2018

C0010278

mapping relation type

exact match

1 reference

7 August 2018

1 reference

8 October 2018

C4280666

1 reference

8 October 2018

C4280665

1 reference

8 October 2018

C0030044

2 references

8 October 2018

8 October 2018

C0235942

1 reference

8 October 2018

0 references

0 references

WikiSkripta article ID

0 references

kraniosynostoosit

kraniosynostoser

craniosynostoses

1 reference

YSO-Wikidata mapping project