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Aortic valve atresia
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HP_0010883 |
[A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.] |
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Abnormal aortic valve morphology
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HP_0001646 |
[Any abnormality of the aortic valve.] |
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Underdeveloped crus of the helix
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HP_0009898 |
[Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.] |
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Liver angiomyolipoma
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HP_0034832 |
[A benign liver neoplasm composed of fat, vascular, and smooth muscle elements.] |
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Prominent crus of helix
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HP_0009899 |
[The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.] |
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Abnormal stool urobilinogen concentration
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HP_0500114 |
[Abnormal concentration of urobilinogen present in the stool.] |
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Increased stool urobilinogen concentration
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HP_0500115 |
[An increased amount of urobilinogen present in the stool.] |
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Positive blood barbiturate test
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HP_0500116 |
[Detection of barbiturate metabolites such as Phenobarbital in blood.] |
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mydriatic agent
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CHEBI_50513 |
[Agent that dilates the pupil. Used in eye diseases and to facilitate eye examination. It may be either a sympathomimetic or parasympatholytic. The latter cause cycloplegia or paralysis of accommodation at high doses and may precipitate glaucoma.] |
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Abnormal CSF urate concentration
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HP_0500117 |
[Abnormal concentration of urate in the cerebrospinal fluid (CSF).] |
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vasoconstrictor agent
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CHEBI_50514 |
[Drug used to cause constriction of the blood vessels.] |
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Atonic seizure
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HP_0010819 |
[Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.] |
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Motor seizure
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HP_0020219 |
[A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.] |
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Linear nevus sebaceous
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HP_0010817 |
[A type of nevus sebaceous with a linear form, raised borders and yellowish color.] |
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Nevus sebaceous
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HP_0010815 |
[A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.] |
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Generalized tonic seizure
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HP_0010818 |
[A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.] |
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Generalized-onset motor seizure
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HP_0032677 |
[A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.] |
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Tonic seizure
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HP_0032792 |
[A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.] |
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Narrow uvula
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HP_0010811 |
[Decreased width of the uvula.] |
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Short uvula
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HP_0010812 |
[Decreased length of the uvula.] |