(Q32140138)

English

congenital myasthenic syndrome 4B

human disease

CMS4B
congenital myasthenic syndrome 4B fast-channel
congenital myasthenic syndrome type 4B
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B

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congenital myasthenic syndrome

1 reference

18 January 2022

postsynaptic congenital myasthenic syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

15 May 2019

autosomal recessive disease

1 reference

18 January 2022

2 references

13 August 2019

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

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WikiProject Medicine

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exact match

http://purl.obolibrary.org/obo/DOID_0110677

1 reference

18 January 2022

http://identifiers.org/doid/DOID:0110677

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

Identifiers

1 reference

18 January 2022

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

(Q32140138)

congenital myasthenic syndrome 4B

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