cardiofaciocutaneous syndrome (Q1097490)

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Human disease

• CFC
• CFC syndrome
• cardio-facial-cutaneous syndrome
• CFC1
• Cfcs
• Cardiofaciocutaneous Syndrome type 1
• CARDIOFACIOCUTANEOUS SYNDROME 1
• CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1
• Cardio-facio-cutaneous syndrome

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Language	Label	Description	Also known as
English	cardiofaciocutaneous syndrome	Human disease	CFC CFC syndrome cardio-facial-cutaneous syndrome CFC1 Cfcs Cardiofaciocutaneous Syndrome type 1 CARDIOFACIOCUTANEOUS SYNDROME 1 CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 Cardio-facio-cutaneous syndrome

Statements

instance of

designated intractable/rare disease

1 reference

reference URL

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

retrieved

17 May 2019

rare disease

0 references

class of disease

0 references

subclass of

syndrome

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:0060233

monogenic disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060233

neuro-cardio-facial-cutaneous syndromes

0 references

RASopathy

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060233

image

Cardiofaciocutaneous syndrome patient frontal view.png
450 × 433; 320 KB

0 references

health specialty

medical genetics

0 references

symptoms and signs

heart failure

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060233

genetic association

MAP2K2

1 reference

stated in

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

MAP2K1

1 reference

stated in

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

KRAS

1 reference

stated in

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

BRAF

1 reference

stated in

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

A2ML1

1 reference

stated in

ClinGen

retrieved

18 September 2019

reference URL

https://search.clinicalgenome.org/kb/gene-validity/fc3c41d8-8497-489b-a350-c9e30016bc6a--2018-06-07T14:31:03

external data available at URL

http://www.nanbyou.or.jp/entry/4095

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

exact match

http://purl.obolibrary.org/obo/DOID_0060233

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060233

http://identifiers.org/doid/DOID:0060233

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_1340

0 references

Commons category

Cardiofaciocutaneous syndrome

0 references

Identifiers

PatientsLikeMe condition ID

cardiofaciocutaneous-syndrome

0 references

KEGG ID

H01745

0 references

Disease Ontology ID

DOID:0060233

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060233

DiseasesDB

30111

1 reference

imported from Wikimedia project

English Wikipedia

Freebase ID

/m/02pjgf

1 reference

stated in

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

9146

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060233

Genetics Home Reference Conditions ID

cardiofaciocutaneous-syndrome

0 references

ICD-10-CM

Q87.8

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060233

ICD-11 (foundation)

498160288

0 references

Microsoft Academic ID

2777400981

0 references

Mondo ID

MONDO_0007265

0 references

OMIM ID

615280

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060233

115150

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060233

615279

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060233

615278

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060233

Orphanet ID

1340

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060233

UMLS CUI

C1275081

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

4 August 2018

Mondo ID

MONDO_0007265

CN029449

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

4 August 2018

Mondo ID

MONDO_0007265

WikiProjectMed ID

Cardiofaciocutaneous syndrome

0 references

 

Sitelinks

Wikipedia(9 entries)

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• dewiki Kardio-fazio-kutanes Syndrom
• enwiki Cardiofaciocutaneous syndrome
• eswiki Síndrome cardiofaciocutáneo
• frwiki Syndrome cardio-facio-cutané
• jawiki 心臓・顔・皮膚症候群
• plwiki Zespół sercowo-twarzowo-skórny
• ruwiki Кардио-фацио-кожный синдром
• trwiki Cardiofaciocutaneous sendromu
• zhwiki 心脸皮肤综合征

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(1 entry)

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• commonswiki Category:Cardiofaciocutaneous syndrome

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