(Q1286848)

English

Pfeiffer syndrome

acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull

acrocephalosyndactylia type V

In more languages

default for all languages

No label defined

No description defined

edit

Statements

instance of

designated intractable/rare disease

1 reference

reference URL

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

0 references

0 references

acrocephalosyndactylia

1 reference

30 November 2020

1 reference

15 May 2019

autosomal dominant disease

1 reference

30 November 2020

0 references

Pfeiffer's syndrome type II with cloverleaf shaped skull and bilateral proptosis.png
512 × 263; 334 KB

0 references

0 references

2 references

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

stated in

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

FGFR1

1 reference

stated in

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

external data available at URL

http://www.nanbyou.or.jp/entry/4675

language of work or name

Japanese

1 reference

reference URL

https://ddrare.nibiohn.go.jp/

retrieved

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICPC 2 ID

A90

1 reference

imported from Wikimedia project

Spanish Wikipedia

NCI Thesaurus ID

C99100

1 reference

15 May 2019

http://purl.obolibrary.org/obo/DOID_14705

1 reference

30 November 2020

http://identifiers.org/doid/DOID:14705

1 reference

stated in

Identifiers.org

reference URL

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

different from

infectious mononucleosis

1 reference

imported from Wikimedia project

Polish Wikipedia

Wikimedia import URL

https://pl.wikipedia.org/w/index.php?title=Zespół_Pfeiffera&oldid=57116898

Commons category

Pfeiffer syndrome

0 references

Identifiers

0 references

1 reference

30 November 2020

1 reference

imported from Wikimedia project

1 reference

28 October 2013

1 reference

15 May 2019

Genetics Home Reference Conditions ID

pfeiffer-syndrome

0 references

ICD-11 ID (Foundation)

1075159878

0 references

ICD-11 ID (MMS)

LD24.G0

subject named as

Pfeiffer syndrome

0 references

Microsoft Academic ID

0 references

0 references

1 reference

15 May 2019

0 references

1 reference

15 May 2019

0 references

0 references

Sitelinks

Wikipedia(18 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:Pfeiffer syndrome