(Q55781325)

English

otofaciocervical syndrome

medical condition

OFC syndrome
Fara-Chlupackova syndrome
Otofaciocervical syndrome

In more languages

default for all languages

No label defined

No description defined

edit

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

rare genetic developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008163

branchial arch or oral-acral syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000125813/MONDO_0008163

based on heuristic

inferred from an Open Targets association score over 0.7

EYA1

2 references

stated in

Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000104313/MONDO_0008163

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_2792

0 references

said to be the same as

Fara–Chlupackova syndrome

0 references

Identifiers

0 references

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008163

(Q55781325)

otofaciocervical syndrome

Statements

Identifiers

Sitelinks

Wikipedia(3 entries)

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)