Search Ontology:
Human Disease

paramyotonia congenita of Von Eulenburg

Term ID
DOID:0111538
Synonyms
  • Eulenburg disease
  • myotonia congenita intermittens
  • paralysis periodica paramyotonica
  • paramyotonia congenita
  • PMC
  • Von Eulenburg paramyotonia congenita
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. (2)
References
  • GARD:7325
  • ICD10CM:G71.19
  • MESH:D020967
  • MIM:168300
  • NCI:C122790
  • ORDO:684
  • SNOMEDCT_US_2023_03_01:41574007
  • UMLS_CUI:C0221055
Ontology
Human Disease   ( DOID:0111538 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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