congenital myopathy with excess of thin filaments (Q56014414)

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human disease

• Actin myopathy

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Language	Label	Description	Also known as
English	congenital myopathy with excess of thin filaments	human disease	Actin myopathy

Statements

instance of

class of disease

0 references

subclass of

congenital myopathy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020342

genetic association

ACTA1

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000143632/MONDO_0020342

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_98904

0 references

Identifiers

MeSH descriptor ID

C579880

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020342

ICD-10-CM

G71.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020342

Mondo ID

MONDO_0020342

0 references

Orphanet ID

98904

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020342

UMLS CUI

C3711389

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020342

C1834336

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020342

 

Sitelinks

Wikipedia(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(0 entries)

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