All terms in HP
| Label | Id | Description |
|---|---|---|
| Ultra-low vision | HP_0032123 | [Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).] |
| Very low visual acuity | HP_0032122 | [A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).] |
| Froment sign | HP_0032121 | [An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.] |
| Abnormal peripheral nervous system physiology | HP_0032120 | [Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.] |
| Increased urinary neutrophil gelatinase-associated lipocalin | HP_0020130 | [An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).] |
| Abnormal tubular basement membrane morphology | HP_0020131 | [Abnormal structure of the basement membrane of the renal tubulus.] |
| Thickening of the tubular basement membrane | HP_0020132 | [Increase in thickness of the basement membrane of the tubulus of the kidney.] |
| Podocyte hypertrophy | HP_0020133 | [Increase in size of the podocytes of the renal glomerulus.] |
| Abnormal podocyte morphology | 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.] |
| Narrow angle glaucoma | HP_0032119 | [A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.] |
| Increased urine neutrophil count | HP_0020134 | [Abnormally increased count of neutrophils in urine.] |
| Retinitis | HP_0032118 | [Inflammation of the retina of the eye.] |
| Myofibromatosis | 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.] |
| Soft tissue neoplasm | 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.] |
| Macrosaccadic oscillation | HP_0032117 | [Series of hypermetric saccades attempting to narrow in on the target (ocular past-pointing).] |
| Saccadic intrusion | HP_0032114 | [An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.] |
| Anticardiolipin IgG antibody positivity | HP_0020136 | [The presence of circulating IgG autoantibodies to cardiolipin.] |
| Antiphospholipid antibody positivity | HP_0003613 | [The presence of circulating autoantibodies to phospholipids.] |
| Macrosquare-wave jerks | HP_0032116 | [Horizontal 10-40 degree excursions from fixation and back again.] |
| Absent smooth pursuit | 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.] |