loading...| Preferred Name |
Familial long QT syndrome |
|
| Synonyms |
LQTS |
|
| Definitions |
A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_768 |
|
| alternative_term |
LQTS Congenital long QT syndrome |
|
| definition |
A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 |
|
| has_age_of_onset |
Adolescent Adult Childhood |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
OMIM:600919 OMIM:601005 OMIM:613485 OMIM:603830 OMIM:220400 MedDRA:10057926 OMIM:612955 OMIM:618447 OMIM:192500 OMIM:611820 OMIM:616247 OMIM:616249 ICD-11:BC65.0 UMLS:C1141890 OMIM:613693 OMIM:613695 OMIM:612347 OMIM:613688 OMIM:611819 OMIM:611818 |
|
| label |
Familial long QT syndrome |
|
| notation |
Clinical group ORPHA:768 |
|
| prefixIRI |
ORDO:Orphanet_768 |
|
| prefLabel |
Familial long QT syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_768 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019171 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019171 | MONDO | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/442917000 | SNOMEDCT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019171 | DOVES | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_658 | HRDO | LOOM |