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Abnormal glomerular visceral epithelial cell morphology
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HP_0031265 |
[Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.] |
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obsolete Narrow angle glaucoma
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HP_0032119 |
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Increased urine neutrophil count
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HP_0020134 |
[Abnormally increased count of neutrophils in urine.] |
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Retinitis
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HP_0032118 |
[Inflammation of the retina of the eye.] |
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Myofibromatosis
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HP_0020135 |
[A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.] |
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Soft tissue neoplasm
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HP_0031459 |
[A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.] |
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obsolete Macrosaccadic oscillation
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HP_0032117 |
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Anticardiolipin IgG antibody positivity
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HP_0020136 |
[The presence of circulating IgG autoantibodies to cardiolipin.] |
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Antiphospholipid antibody positivity
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HP_0003613 |
[The presence of circulating autoantibodies to phospholipids.] |
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Macrosquare-wave jerks
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HP_0032116 |
[Horizontal 10-40 degree excursions from fixation and back again.] |
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Saccadic intrusion
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HP_0032114 |
[An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.] |
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Maternal hyperthyroidism
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HP_0034778 |
[The mother of a fetus or index patient has a history of hyperthyroidism during the corresponding pregnancy.] |
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Perineal
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HP_0034779 |
[Applies to an abnormality that affects the perineum (the region of skin between the genitals and the anus).] |
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Absent smooth pursuit
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HP_0007179 |
[A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.] |
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Impaired smooth pursuit
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HP_0007772 |
[An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.] |
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Lumbar hypolordosis
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HP_0034770 |
[Flattening of a curve in the spine in the lumbar (lower back) region.] |
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Battle sign
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HP_0034771 |
[Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid.] |
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Ecchymosis
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HP_0031364 |
[A purpuric lesion that is larger than 1 cm in diameter.] |
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Focal T2 hyperintense basal ganglia lesion
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HP_0007183 |
[A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.] |
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Decreased skull base length
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HP_0034772 |
[Reduced anterioposterior dimension of the skull base.] |