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Pallidal degeneration
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HP_0007132 |
[Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.] |
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Elevated CSF sarcosine concentration
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HP_0034739 |
[Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal.] |
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Abnormal CSF serine family amino acid concentration
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HP_0500225 |
[Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.] |
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Acute demyelinating polyneuropathy
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HP_0007131 |
[Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.] |
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Presacral teratoma
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HP_0009793 |
[A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).] |
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Sacrococcygeal teratoma
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HP_0030736 |
[A teratoma arising in the sacro-coccygeal region.] |
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Shoulder dimple
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HP_0010782 |
[A subtype of skin dimples occurring in the shoulder region.] |
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Branchial anomaly
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HP_0009794 |
[Congenital developmental defect arising from the primitive branchial apparatus.] |
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absence of physical object
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PATO_0040058 |
[A quality denoting the lack of a physical entity or object, such as a chemical.] |
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Hyperacusis
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HP_0010780 |
[Over-sensitivity to certain frequency ranges of sound.] |
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Auditory hypersensitivity
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HP_5200060 |
[Hyperresponsive to sound that is abnormal in intensity and/or frequency.] |
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Branchial fistula
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HP_0009795 |
[A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.] |
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Elevated circulating S-adenosyl-L-homocysteine concentration
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HP_0034730 |
[Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.] |
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Branchial cyst
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HP_0009796 |
[A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.] |
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Elevated circulating S-adenosyl-L-methionine concentration
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HP_0034731 |
[Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.] |
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Cholesteatoma
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HP_0009797 |
[Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.] |
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Exercise-triggered malignant hyperthermia
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HP_0034732 |
[Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.] |
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Malignant hyperthermia
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HP_0002047 |
[Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.] |
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Erythema
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HP_0010783 |
[Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.] |
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Supernumerary spleens
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HP_0009799 |
[The presence of two or more accessory spleens.] |