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Entry	Name	Description	Category	Gene
H00400	Parainfluenza infection	... most common causes of pediatric lower respiratory tract disease leading to hospitalization after respiratory syncytial virus. It can cause repeated infections throughout life, causing flu-like illness.	Viral infectious disease
H00401	Respiratory syncytial virus infection RSV infection	Respiratory syncytial virus (RSV) of the Paramyxoviridae family is a major cause of acute lower respiratory tract illness in infants and young children. It affects the elderly and immunocompromised individuals ...	Viral infectious disease
H00720	Long QT syndrome	... electrocardiogram (ECG) and a propensity to torsades de pointes ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals. Anesthesia in ...	Cardiovascular disease	(LQT1) KCNQ1 [HSA:3784] [KO:K04926] (LQT2) KCNH2 [HSA:3757] [KO:K04905] (LQT3) SCN5A [HSA:6331] [KO:K04838] (LQT4) ANK2 [HSA:287] [KO:K09255] (LQT5) KCNE1 [HSA:3753] [KO:K04894] (LQT6) KCNE2 [HSA:9992] [KO:K04896] (LQT7) KCNJ2 [HSA:3759] [KO:K04996] (LQT8) CACNA1C [HSA:775] [KO:K04850] (LQT9) CAV3 [HSA:859] [KO:K12959] (LQT10) SCN4B [HSA:6330] [KO:K04848] (LQT11) AKAP9 [HSA:10142] [KO:K16551] (LQT12) SNTA1 [HSA:6640] [KO:K24063] (LQT13) KCNJ5 [HSA:3762] [KO:K04999] (LQT14) CALM1 [HSA:801] [KO:K02183] (LQT15) CALM2 [HSA:805] [KO:K02183] (LQT16) CALM3 [HSA:808] [KO:K02183]
H00725	Short QT syndrome	... in SQTS. SQTS is characterized by constantly short QT interval associated with atrial fibrillation, syncopal episodes, and sudden cardiac death. The implantable cardioverter defibrillator (ICD) therapy ...	Cardiovascular disease	(SQT1) KCNH2 [HSA:3757] [KO:K04905] (SQT2) KCNQ1 [HSA:3784] [KO:K04926] (SQT3) KCNJ2 [HSA:3759] [KO:K04996] (SQT7) SLC4A3 [HSA:6508] [KO:K13856]
H00729	Sick sinus syndrome Sinus node dysfunction	... conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations on electrocardiogram ...	Cardiovascular disease	(SSS1) SCN5A [HSA:6331] [KO:K04838] (SSS2) HCN4 [HSA:10021] [KO:K04957] (SSS3) MYH6 [HSA:4624] [KO:K17751] (SSS4) GNB2 [HSA:2783] [KO:K04537]
H01019	Catecholaminergic polymorphic ventricular tachycardia	... stress-related adrenergic ventricular tachycardia without structural cardiac abnormalities. It manifests as syncope and sudden death and can be caused by mutations in the cardiac ryanodine receptor gene (RYR2) ...	Cardiovascular disease	(CPVT1) RYR2 [HSA:6262] [KO:K04962] (CPVT2) CASQ2 [HSA:845] [KO:K23445] (CPVT3) TECRL [HSA:253017] [KO:K24219] (CPVT4) CALM1 [HSA:801] [KO:K02183] (CPVT5) TRDN [HSA:10345] [KO:K23449] (CPVT6) CALM3 [HSA:808] [KO:K02183]
H01031	Orthostatic intolerance Postural tachycardia syndrome	... young females, and is characterized by lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily occurring with upright posture and being relieved by lying down. Patients often have ...	Cardiovascular disease	SLC6A2 [HSA:6530] [KO:K05035]
H01063	Human metapneumovirus infection	... years. It causes mild to severe cough, bronchiolitis, and pneumonia and these symptoms cannot be distinguished from those caused by the respiratory syncytial virus, influenza and parainfluenza viruses.	Viral infectious disease
H01263	Progressive cardiac conduction defect (PCCD) Progressive familial heart block (PFHB) Lenegre-Lev disease	... cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular block causing syncope and sudden death. Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible ...	Cardiovascular disease	(PFHB1A) SCN5A [HSA:6331] [KO:K04838] (PFHB1B) TRPM4 [HSA:54795] [KO:K04979]
H01712	Fulminant hepatic failure Fulminant hepatitis	... acetaminophen toxicity are high, whereas those same rates for other types of viral hepatitis and idiosyncratic drug reactions are quite low. Identification of the cause of FHF is important because some ...	Digestive system disease
H01729	Premature ventricular complexes Premature ventricular contractions	... others, PVCs may be frequent and highly symptomatic, presenting as palpitations, chest discomfort, or presyncope. Clinical evidence suggests that frequent PVCs (variably defined in the literature) are more ...	Cardiovascular disease
H01730	Myocardial infarction	... chest pain, which travels from left arm to neck, shortness of breath, nausea, epigastric discomfort, syncope, diaphoresis, and other factors. The diagnosis of MI is dependent on the sensitivity and specificity ...	Cardiovascular disease	ESR1 [HSA:2099] [KO:K08550] F13A1 [HSA:2162] [KO:K03917] F7 [HSA:2155] [KO:K01320] GCLC [HSA:2729] [KO:K11204] GCLM [HSA:2730] [KO:K11205] ITGB3 [HSA:3690] [KO:K06493] LRP8 [HSA:7804] [KO:K20052] LTA [HSA:4049] [KO:K05468] OLR1 [HSA:4973] [KO:K08763] PSMA6 [HSA:5687] [KO:K02730] TNFSF4 [HSA:7292] [KO:K05469] LGALS2 [HSA:3957] [KO:K10090]
H01815	Malignant migrating partial seizures in infancy	... (AEDs). Early and multiple video/EEG recordings are critical to detect the characteristic multifocal and asynchronous long lasting ictal discharges and are essential for MMPSI diagnosis. MMPSI is a genetically ...	Nervous system disease	PLCB1 [HSA:23236] [KO:K05858] TBC1D24 [HSA:57465] [KO:K21841] KCNT1 [HSA:57582] [KO:K04946] SLC12A5 [HSA:57468] [KO:K23967] SCN1A [HSA:6323] [KO:K04833]
H01822	Epilepsy with myoclonic absence	... on clinical observation and ictal polygraphic and video-EEG recording. The ictal EEG shows bilateral, synchronous and symmetrical spike and wave discharges repeated at 3 Hz. The age of onset of seizures ...	Nervous system disease
H02751	Orthostatic hypotension	... inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and syncope. Orthostatic hypotension is a common clinical problem, but the underlying mechanisms have not ...	Cardiovascular disease	(ORTHYP1) DBH [HSA:1621] [KO:K00503] (ORTHYP2) CYB561 [HSA:1534] [KO:K08360]

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