About: nodeID://b50937541

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

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007646
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	myotonic dystrophy type 2
annotatedTarget	A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
database_cross_reference	url:http://www.ncbi.nlm.nih.gov/books/NBK1466/ url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy
is topic of	Human Disease Ontology

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