About: congenital myasthenic syndrome 2A

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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 dominant disease congenital myasthenic syndrome nodeID://b50943479 nodeID://b50943480 nodeID://b50943481 nodeID://b50943482
label	congenital myasthenic syndrome 2A
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110681
database_cross_reference	OMIM:616313
has_exact_synonym	CMS2A (en) congenital myasthenic syndrome 2A slow-channel (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943483

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