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DO Term : paramyotonia congenita of Von Eulenburg [DOID:0111538] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • myotonia congenita intermittens,
  • UMLS_CUI:C0221055,
  • MESH:D020967,
  • 168300,
  • OMIM:168300,
  • ICD10CM:G71.19,
  • GARD:7325,
  • paralysis periodica paramyotonica,
  • Von Eulenburg paramyotonia congenita,
  • PMC,
  • paramyotonia congenita,
  • ORDO:684,
  • Eulenburg disease,
  • SNOMEDCT_US_2023_03_01:41574007,
  • NCI:C122790
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