(Q32140212)

English

congenital myasthenic syndrome 18

human disease

CMS18
Myasthenic Syndrome, Congenital, type 18
Myasthenic Syndrome, Congenital, 18, With Intellectual Disability and Ataxia
congenital myasthenic syndrome type 18
MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18
MYASTHENIC SYNDROME, CONGENITAL, 18

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Statements

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class of disease

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congenital myasthenic syndrome

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

presynaptic congenital myasthenic syndrome

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal dominant disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110683

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110683

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

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

UniProt disease ID

0 references

Sitelinks

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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