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| Term | paramyotonia congenita of Von Eulenburg | ID (Ontology) | DOID:0111538 (Human Disease) |
| 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. | ||
| Also Known As | "Eulenburg disease" ; "myotonia congenita intermittens" ; "paralysis periodica paramyotonica" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ musculoskeletal system disease | |__neuromuscular disease_______| neuropathy | |__neuromuscular disease_______| paramyotonia congenita of Von Eulenburg 1 rec. |
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autosomal dominant disease neuromuscular disease |
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GARD:7325 ICD10CM:G71.19 MESH:D020967 MIM:168300 NCI:C122790 ORDO:684 SNOMEDCT_US_2023_03_01:41574007 UMLS_CUI:C0221055 |
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