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Disease Ontology Browser
paramyotonia congenita of Von Eulenburg (DOID:0111538)
Alliance: disease page
Synonyms: Eulenburg disease; myotonia congenita intermittens; paralysis periodica paramyotonica; paramyotonia congenita; PMC; Von Eulenburg paramyotonia congenita
Alt IDs: OMIM:168300, ICD10CM:G71.19, MESH:D020967, NCI:C122790, ORDO:684, UMLS_CUI:C0221055
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/19/2024
MGI 6.24 		The Jackson Laboratory