paramyotonia congenita of Von Eulenburg
Information
- Disease name
- paramyotonia congenita of Von Eulenburg
- Disease ID
- DOID:0111538
- 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." [url:https\://ghr.nlm.nih.gov/condition/paramyotonia-congenita, url:https\://www.ncbi.nlm.nih.gov/pubmed/1316765]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:440
- Cross Reference ID (Disease Ontology)
- GARD:7325
- Cross Reference ID (Disease Ontology)
- ICD10CM:G71.19
- Cross Reference ID (Disease Ontology)
- MESH:D020967
- Cross Reference ID (Disease Ontology)
- MIM:168300
- Cross Reference ID (Disease Ontology)
- NCI:C122790
- Cross Reference ID (Disease Ontology)
- ORDO:684
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:41574007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0221055
- Exact Synonym (Disease Ontology)
- Eulenburg disease
- Exact Synonym (Disease Ontology)
- myotonia congenita intermittens
- Exact Synonym (Disease Ontology)
- paralysis periodica paramyotonica
- Exact Synonym (Disease Ontology)
- paramyotonia congenita
- Exact Synonym (Disease Ontology)
- PMC
- Exact Synonym (Disease Ontology)
- Von Eulenburg paramyotonia congenita
- OrphaNumber from OrphaNet (Orphanet)
- 684