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Summary Literature (0)
DOID:0111538 - paramyotonia congenita of Von Eulenburg

Disease Ontology Definition: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.

Synonyms: Eulenburg disease, PMC, Von Eulenburg paramyotonia congenita, myotonia congenita intermittens, paralysis periodica paramyotonica, paramyotonia congenita

Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : scn4a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), neuromuscular disease (is_a)

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Version: 4.15.0
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