(Q32140086)

English

congenital myasthenic syndrome 19

human disease

CMS19
congenital myasthenic syndrome type 19
Myasthenic Syndrome, Congenital, 19
Myasthenic Syndrome, Congenital, type 19

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Statements

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class of disease

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congenital myasthenic syndrome

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110673

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110673

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 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

28 July 2018

UniProt disease ID

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Sitelinks

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