About: congenital myasthenic syndrome 11

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease congenital myasthenic syndrome nodeID://b50943453 nodeID://b50943454
label	congenital myasthenic syndrome 11
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110675
database_cross_reference	OMIM:616326
has_exact_synonym	CMS Ie (en) CMS11 (en) CMS1E (en) congenital myasthenic syndrome 1e (en) congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943455

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