About: congenital myasthenic syndrome 13

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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://b50943456 nodeID://b50943457 nodeID://b50943458
label	congenital myasthenic syndrome 13
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110676
database_cross_reference	OMIM:614750
has_exact_synonym	CMS13 (en) CMSTA2 (en) congenital myasthenic syndrome with tubular aggregates 2 (en) congenital myasthenic syndrome 13 with tubular aggregates (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943459

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