(Q55783466)

English

familial dyskinesia and facial myokymia

No description defined

FDFM
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA

In more languages

Statements

0 references

class of disease

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rare paroxysmal movement disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000173175/Orphanet_324588

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_324588

0 references

Identifiers

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GARD rare disease ID

1 reference

Genetic and Rare Diseases Information Center

1 April 2019

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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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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