congenital myopathy (Q112412)

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human disease

Congenital myopathy

Language	Label	Description	Also known as
English	congenital myopathy	human disease	Congenital myopathy

Statements

designated intractable/rare disease

2 references

http://www.nanbyou.or.jp/entry/4726

6 December 2018

https://ddrare.nibiohn.go.jp/

17 May 2019

class of disease

0 references

muscular disease

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Disease Ontology

30 November 2020

Disease Ontology ID

congenital disorder

0 references

health specialty

0 references

genetic association

1 reference

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10c52aaf-cd58-4448-bac7-12b653bfa962-2021-06-28T160000.000Z

external data available at URL

http://www.nanbyou.or.jp/entry/4726

language of work or name

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0080100

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080100

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_97245

0 references

Identifiers

subject named as

vrozené myopatie

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

0 references

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

ICD-11 ID (Foundation)

0 references

ICD-11 ID (MMS)

8C72

subject named as

Congenital myopathies

0 references

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

0 references

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

https://web.archive.org/web/20220125070108/https://docs.openalex.org/download-snapshot/snapshot-data-format

25 January 2022

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

WikiProjectMed ID

Congenital myopathy

0 references

Sitelinks

Wikipedia(7 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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