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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:paramyotonia congenita of Von Eulenburg
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Accession:DOID:0111538 term browser browse the term
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 SCN4A on chromosome 17q23.3. (DO)
Synonyms:exact_synonym: Eulenburg disease;   PARALYSIS PERIODICA PARAMYOTONICA;   PARAMYOTONIA CONGENITA;   PMC;   Von Eulenburg paramyotonia congenita;   myotonia congenita intermittens
 narrow_synonym: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS;   paramyotonia congenita without cold paralysis
 primary_id: OMIM:168300
 xref: GARD:7325;   ICD10CM:G71.19;   ORDO:684
For additional species annotation, visit the Alliance of Genome Resources.


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paramyotonia congenita of Von Eulenburg term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Paramyotonia congenita of von Eulenburg OMIM
ClinVar
PMID:1310898 PMID:1316765 PMID:2649440 PMID:7473241 PMID:7533571 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        muscular disease 1236
          myotonic disease 20
            paramyotonia congenita of Von Eulenburg 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  myopathy 661
                    muscular dystrophy 323
                      myotonic disease 20
                        paramyotonia congenita of Von Eulenburg 1
paths to the root