Human Phenotype
Ontology
Grandparent Node: Atrial arrhythmia (HP:0001692) Parent Node: Atrial fibrillation (HP:0005110) ..Starting node .. Permanent atrial fibrillation (HP:0004754)
Term ID:
4754
Name:
Permanent atrial fibrillation
Synonym:
Chronic atrial fibrillation
Definition:
Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.
Comments:
Reference:
HP:0004754
Genes and Diseases: Child Nodes: Sister Nodes: ..Paroxysmal atrial fibrillation (HP:0004757) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0004754 HP:0004754 Permanent atrial fibrillation 0 FLNC CL E G H 2318 3756 OMIM:617047 Cardiomyopathy, familial hypertrophic, 26 197 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 KCNA5 CL E G H 3741 6224 OMIM:612240 Atrial fibrillation, familial, 7 38 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 KCNE2 CL E G H 9992 6242 OMIM:611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 43 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 KCNJ2 CL E G H 3759 6263 OMIM:613980 Atrial fibrillation, familial, 9 193 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 KCNJ5 CL E G H 3762 6266 OMIM:613485 Long QT syndrome 13 128 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 KCNQ1 CL E G H 3784 6294 OMIM:607554 Atrial fibrillation, familial, 3 730 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 MYL4 CL E G H 4635 7585 OMIM:617280 Atrial fibrillation, familial, 18 HP:0040283 - Occasional 2 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 SCN3B CL E G H 55800 20665 OMIM:613120 Brugada syndrome 7 122 HP:0004754 HP:0004754 Permanent atrial fibrillation 0 SCN5A CL E G H 6331 10593 OMIM:614022 Atrial fibrillation, familial, 10 1134
Genes (9) :FLNC KCNA5 KCNE2 KCNJ2 KCNJ5 KCNQ1 MYL4 SCN3B SCN5A Diseases (9) :OMIM:617047 OMIM:612240 OMIM:611493 OMIM:613980 OMIM:613485 OMIM:607554 OMIM:617280 OMIM:613120 OMIM:614022
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.