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Blue urine
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HP_0040317 |
[An abnormal blue color of the urine.] |
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Red urine
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HP_0040318 |
[An abnormal red color of the urine.] |
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Symmetric polyarthritis
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HP_0040311 |
[Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.] |
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Temporomandibular arthritis
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HP_0040312 |
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Oligoarthritis
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HP_0040313 |
[A type of arthritis that affects up to four joints in the first six months of disease.] |
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Blind vagina
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HP_0040314 |
[The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.] |
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Abnormal CSF/serum albumin ratio
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HP_0030981 |
[A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.] |
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Reduced brain glutamine level by MRS
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HP_0030980 |
[An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).] |
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Dark urine
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HP_0040319 |
[An abnormal dark color of the urine.] |
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Decreased CSF/serum albumin ratio
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HP_0030978 |
[A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.] |
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Dilatation of large choroidal vessels
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HP_0030979 |
[Enlargement of the large blood vessels in the choroid.] |
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Increased factor VIII activity
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HP_0030977 |
[Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.] |
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Cryptozoospermia
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HP_0030974 |
[A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.] |
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Steppage gait
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HP_0003376 |
[An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.] |
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Pontine tegmental cap
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HP_0030975 |
[An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.] |
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Axonal degeneration/regeneration
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HP_0003378 |
[A pattern of simultaneous degeneration and regeneration of axons (see comment).] |
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Postexertional symptom exacerbation
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HP_0030973 |
[Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.] |
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Exercise intolerance
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HP_0003546 |
[A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.] |
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Red-brown urine
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HP_0040320 |
[An abnormal red-brown color of the urine.] |
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Narrow greater sciatic notch
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HP_0003375 |
[A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.] |