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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 the SCN4A gene on chromosome 17q23.3.
Synonyms: Eulenburg disease, myotonia congenita intermittens, paralysis periodica paramyotonica, paramyotonia congenita, PMC, Von Eulenburg paramyotonia congenita
Xenbase Genes : scn4a
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee