| D008133 |
Long QT Syndrome |
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME. |
Electrocardiogram QT Prolonged |
|
| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D005347 |
Fibroblasts |
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. |
Fibroblast |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000072237 |
ERG1 Potassium Channel |
One of three members of the ether-a-go-go (EAG) POTASSIUM CHANNELS gene family comprising ether-a-go-go (eag), eag-like (elk) and eag-related (erg) subfamilies. Ether-a-go-go-related gene 1 (ERG1) also known as KCNH2, encodes the pore-forming subunit of a rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of ventricular action potential. Loss-of-function mutations in human hERG1 is associated with life-threatening ARRHYTHMIA. |
Ether-A-Go-Go-Related Potassium Channel 1,Kv11.1 Protein-Potassium Channel,Potassium Voltage-Gated Channel, Subfamily H, Member 2,Channel, ERG1 Potassium,Channel, Kv11.1 Protein-Potassium,Ether A Go Go Related Potassium Channel 1,Kv11.1 Protein Potassium Channel,Potassium Channel, ERG1,Protein-Potassium Channel, Kv11.1 |
|
| D001145 |
Arrhythmias, Cardiac |
Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. |
Arrhythmia,Arrythmia,Cardiac Arrhythmia,Cardiac Arrhythmias,Cardiac Dysrhythmia,Arrhythmia, Cardiac,Dysrhythmia, Cardiac |
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| D057026 |
Induced Pluripotent Stem Cells |
Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS. |
Human Induced Pluripotent Stem Cell,IPS Cell,IPS Cells,Induced Pluripotent Stem Cell,Fibroblast-Derived IPS Cells,Fibroblast-Derived Induced Pluripotent Stem Cells,Human Induced Pluripotent Stem Cells,hiPSC,Cell, Fibroblast-Derived IPS,Cell, IPS,Cells, Fibroblast-Derived IPS,Cells, IPS,Fibroblast Derived IPS Cells,Fibroblast Derived Induced Pluripotent Stem Cells,Fibroblast-Derived IPS Cell,IPS Cell, Fibroblast-Derived,IPS Cells, Fibroblast-Derived |
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