(Q4990874)

English

congenital fibrosis of the extraocular muscles

ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position

Tukel syndrome
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Feom3 Locus
CFEOM3A

In more languages

Statements

0 references

class of disease

0 references

ocular motility disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

muscular fibrosis

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000258947/EFO_1001985

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder

3 references

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000139116/EFO_1001985

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0080143

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080143

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_45358

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common DOID mappings on source and on Wikidata

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

Genetics Home Reference Conditions ID

congenital-fibrosis-of-the-extraocular-muscles

0 references

ICD-11 (foundation)

0 references

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

Sitelinks

Wikipedia(4 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)

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