OBO ID: DOID:0111538
Term Name: paramyotonia congenita of Von Eulenburg Search Ontology:
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
  • NCI:C122790
  • OMIM:168300
  • ORDO:684
  • SNOMEDCT_US_2023_03_01:41574007
  • UMLS_CUI:C0221055
Ontology: Human Disease   ( DOID:0111538 )
OTHER paramyotonia congenita of Von Eulenburg PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCN4A Paramyotonia congenita 168300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None