| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001297 | Stroke | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001663 | Ventricular fibrillation | |
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| HP:0001664 | Torsade de pointes | |
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| HP:0001678 | Atrioventricular block | |
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| HP:0001688 | Sinus bradycardia | |
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| HP:0001695 | Cardiac arrest | |
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| HP:0001699 | Sudden death | |
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| HP:0001712 | Left ventricular hypertrophy | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0001962 | Palpitations | |
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| HP:0002094 | Dyspnea | |
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| HP:0003198 | Myopathy | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0004749 | Atrial fibrillation or flutter | |
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| HP:0004755 | Supraventricular tachyarrhythmias | |
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| HP:0004757 | paroxysmal atrial fibrillation | |
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| HP:0005110 | Atrial fibrillation | |
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| HP:0005155 | Ventricular escape rhythms | |
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| HP:0005170 | Complete heart block with broad RS complexes | |
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| HP:0005172 | Left anterior or posterior hemiblock | |
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| HP:0005180 | Tricuspid insufficiency | |
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| HP:0006671 | Paroxysmal atrial tachycardia | |
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| HP:0006673 | Reduced systolic function | |
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| HP:0006682 | Ventricular extrasystoles | "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:curators] |
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| HP:0006699 | Ectopic supraventricular rhythms | |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0011704 | Sick sinus syndrome | |
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| HP:0011711 | Left anterior fascicular block | "Conduction block in the anterior division of the left bundle branch of the bundle of His." [DDD:dbrown] |
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| HP:0011712 | Right bundle branch block | "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [DDD:dbrown, HPO:probinson] |
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| HP:0011713 | Left bundle branch block | "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [DDD:dbrown, HPO:probinson] |
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| HP:0025478 | Atrial standstill | "Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram." [PMID:23074623] |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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