(Q55346061)

English

recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

human disease

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default for all languages

No label defined

No description defined

Statements

class of disease

0 references

nervous system heredodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

other metabolic disease with epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic cardiac rhythm disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare genetic epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000183597/MONDO_0018820

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_480864

0 references

Identifiers

GARD rare disease ID

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

Sitelinks

Wikipedia(0 entries)

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Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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