loading...| Preferred Name |
paramyotonia congenita of Von Eulenburg |
| Synonyms |
paralysis periodica paramyotonica |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111538 |
| database_cross_reference |
UMLS_CUI:C0221055 ICD10CM:G71.19 MESH:D020967 NCI:C122790 GARD:7325 SNOMEDCT_US_2022_09_01:41574007 OMIM:168300 ORDO:684 |
| 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. |
| has exact synonym |
paralysis periodica paramyotonica myotonia congenita intermittens paramyotonia congenita Von Eulenburg paramyotonia congenita Eulenburg disease PMC |
| has material basis in | |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111538 |
| in_subset | |
| label |
paramyotonia congenita of Von Eulenburg |
| notation |
DOID:0111538 |
| prefLabel |
paramyotonia congenita of Von Eulenburg |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/168300 | Online Mendelian Inheritance in Man | LOOM |