| 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:0000016 | Urinary retention | |
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| HP:0000597 | Ophthalmoparesis | "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001663 | Ventricular fibrillation | |
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| HP:0001824 | Weight loss | |
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| HP:0001962 | Palpitations | |
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| HP:0002019 | Constipation | |
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| HP:0002153 | Hyperkalemia | |
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| HP:0002203 | Respiratory paralysis | |
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| HP:0002445 | Tetraplegia | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003198 | Myopathy | |
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| HP:0003201 | Rhabdomyolysis | |
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| HP:0003394 | Muscle cramps | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003552 | Muscle stiffness | |
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| HP:0003694 | Proximal muscle weakness occurs later | "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] |
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| HP:0003752 | Flaccid weakness or paralysis, episodic attacks | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0005165 | Shortened P-R interval on EKG | |
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| HP:0007215 | Secondary hyperkalemic periodic paralysis | |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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| HP:0008153 | Periodic hypokalemic paresis | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0008256 | Adrenocortical adenoma | "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] |
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| HP:0008285 | Transient hypophosphatemia | |
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| HP:0009020 | Exercise-induced muscle fatigue | "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators] |
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| HP:0011706 | Second degree atrioventricular block | "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [DDD:dbrown, HPO:probinson] |
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| HP:0011785 | Thyrotoxicosis with toxic multinodular goitre | |
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| HP:0011786 | Thyrotoxicosis with toxic single thyroid nodule | |
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| HP:0011998 | Postprandial hyperglycemia | "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson] |
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| HP:0012240 | Increased intramyocellular lipid droplets | "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590] |
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| HP:0012364 | Decreased urinary potassium | "A decreased concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0012726 | Episodic hypokalemia | "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson] |
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| HP:0030196 | Fatigable weakness of respiratory muscles | "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] |
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| HP:0100647 | Graves disease | "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients." [HPO:sdoelken] |
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