About: paramyotonia congenita of Von Eulenburg

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About: paramyotonia congenita of Von Eulenburg Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	autosomal dominant disease neuromuscular disease nodeID://b50945008 nodeID://b50945009
label	paramyotonia congenita of Von Eulenburg
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111538
database_cross_reference	GARD:7325 ICD10CM:G71.19 MESH:D020967 NCI:C122790 OMIM:168300 ORDO:684 SNOMEDCT_US_2021_09_01:41574007 UMLS_CUI:C0221055
has_exact_synonym	Eulenburg disease (en) PMC (en) Von Eulenburg paramyotonia congenita (en) myotonia congenita intermittens (en) paralysis periodica paramyotonica (en) paramyotonia congenita (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945010

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