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Extrapyramidal muscular rigidity
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HP_0007076 |
[Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).] |
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Knee contracture
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HP_0034671 |
[Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.] |
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Knee extension contracture
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HP_0034672 |
[A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.] |
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Hyperactive patellar reflex
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HP_0007083 |
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Abnormal ankle morphology
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HP_0034673 |
[A structural anomaly of the ankle.] |
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Abnormality of the ankle
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HP_0003028 |
[An anomaly of the joint that connects the foot with the leg.] |
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Dilated third ventricle
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HP_0007082 |
[An increase in size of the third ventricle.] |
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Abnormal third ventricle morphology
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HP_0010951 |
[An abnormality of the third ventricle.] |
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Abnormal ankle physiology
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HP_0034674 |
[A functional anomaly of the ankle.] |
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obsolete Late-onset muscular dystrophy
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HP_0007081 |
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Toe joint contracture
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HP_0034675 |
[Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.] |
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Extension contracture of toe
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HP_0034676 |
[A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.] |
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Foot joint contracture
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HP_0008366 |
[Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.] |
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Forefoot pronation contracture
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HP_0034678 |
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Vertebrobasilar dolichoectasia
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HP_0020038 |
[Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.] |
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Retinal thickening on OCT
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HP_0020039 |
[Anteroposterior thickness of the retina above the upper limit of normal. This phenotype can be appreciated by retinal optical coherence tomography (OCT).] |
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Dysmetric horizontal saccades
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HP_0032015 |
[Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.] |
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Dysmetric vertical saccades
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HP_0032014 |
[Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.] |
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Hypermetric horizontal saccades
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HP_0032013 |
[Overshoot of horizontal (sideways) saccadic eye movements.] |
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Hypermetric saccades
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HP_0007338 |
[A saccade that overshoots the target with the dynamic saccade.] |