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Cortical sclerosis of the iliac wing
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HP_0033701 |
[Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.] |
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Papillary dermis eosinophilic hyaline material
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HP_6000656 |
[Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.] |
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Papulovesicular eruption
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HP_0033700 |
[An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.] |
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Elevated muscle fiber laminin alpha 5 expression
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HP_6000659 |
[A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene.] |
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Auditory hallucination
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HP_0008765 |
[Perception of sounds without auditory stimulus.] |
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Medium vessel vasculitis
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HP_6000658 |
[A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.] |
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No social interaction
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HP_0008763 |
[Lack of intentional participation in interactions with another person.] |
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Abnormal relationship
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HP_5200024 |
[The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.] |
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sonic hedgehog protein proteolytic cleavage product
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PR_000021468 |
[A sonic hedgehog protein that has been processed by proteolytic cleavage.] |
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Repetitive compulsive behavior
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HP_0008762 |
|
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Violent behavior
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HP_0008760 |
[Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.] |
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Increased sputum production
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HP_0033709 |
[An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).] |
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Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity
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HP_0033708 |
|
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Lipid-laden bone-marrow macrophages
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HP_6000640 |
[Bone marrow with increased numbers of macrophages heavily laden with lipids.] |
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Sunflower cataract
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HP_6000642 |
[Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals.] |
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Bone marrow monocytosis
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HP_6000641 |
[Increased count of monocytes in the bone marrow.] |
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Anti-lamin C antibody positivity
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HP_6000644 |
[The presence of autoantibodies in the blood circulation that react against human lamin C.] |
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Anti-lamin A antibody positivity
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HP_6000643 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A.] |
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Thinning of Descemet membrane
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HP_0031159 |
[A reduction in the thickness of Descemet's membrane.] |
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Anti-annexin A5 antibody positivity
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HP_6000646 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.] |