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loading...| Preferred Name |
Isaacs syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_84142 |
| alternative_term |
Continuous muscle fiber activity syndrome Isaacs-Mertens syndrome Quantal squander syndrome |
| definition |
Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142 |
| has_age_of_onset |
All ages |
| has_inheritance |
Not applicable |
| hasDbXref |
UMLS:C0242287 ICD-10:G71.1 ICD-11:8C71.4 |
| label |
Isaacs syndrome |
| notation |
ORPHA:84142 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_84142 |
| prefLabel |
Isaacs syndrome |
| present_in |
Worldwide AND has_cases/families_value : 150.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D020386 | Medical Subject Headings / 医学主题词表 | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_1000638 | Experimental Factor Ontology / 实验性因素本体 | LOOM |