| HPO |
HP:0020120 |
Retinal nerve fiber edema |
"Swelling (edema) of the retinal nerve fibers." [] |
— |
HP:0020119 |
| HPO |
HP:0020121 |
Conception by assisted reproductive technology |
"A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation." [PMID:28844405] |
Assisted reproductive technology is used primarily for infertility treatments to achieve pregnancy. |
HP:0032443 |
| HPO |
HP:0020122 |
Bite cells |
"Red blood cells that appear to have parts of them bitten away." [ISBN:978-0-07174889-6] |
This feature can be observed with acute hemolytic anemia (AHA) related to glucose-6-phosphate dehydrogenase (G6PD) deficiency. In this disorder, AHA can be triggered by ingestion of fave beans, infections, and certain medications. The blood film can show poikilocytosis with bite cells. |
HP:0004447 |
| HPO |
HP:0020123 |
Tympanosclerosis |
"A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear." [PMID:27656306] |
Plaques related to tympanosclerosis do not form spherical lesions and are typically within the drum substance itself which is normally easily discerned when using the binocular view of a microscope rather than the monocular, two-dimensional view of a hand-held otoscope. Such plaques can alter compliance of the tympanic membrane and can lead to sclerotic fixation of the ossicles, both of which can result in a mild conductive hearing loss. Histologically, lesions vary slightly according to their stage of development showing differing amounts of increased fibroblasts, abnormal fibers, areas of hyalinization, and areas of calcification into an osseous-like matrix. Most patients require no treatment. |
HP:0008609 |
| HPO |
HP:0020125 |
Spontaneous conjunctival filtering bleb |
"Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma." [PMID:24768550, PMID:8749053] |
— |
HP:0000502 |
| HPO |
HP:0020126 |
Prostate mass |
"A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction." [] |
The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. |
HP:0008775 |
| HPO |
HP:0020127 |
Periarticular soft-tissue mass |
"A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction." [] |
The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. |
HP:0001367 |
| HPO |
HP:0020128 |
Aplasia of the olfactory tract |
"Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell." [ORCID:0000-0001-5208-3432, PMID:27863011] |
— |
HP:0100547 |
| HPO |
HP:0020129 |
Abnormal urine protein level |
"Any deviation of the concentration of one or more proteins in the urine." [] |
— |
HP:0033354 |
| HPO |
HP:0020130 |
Increased urinary neutrophil gelatinase-associated lipocalin |
"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)." [PMID:18725016] |
An increased urinary NGAL concentration may indicate tubular injury. |
HP:0020129 |
| HPO |
HP:0020131 |
Abnormal tubular basement membrane morphology |
"Abnormal structure of the basement membrane of the renal tubulus." [] |
— |
HP:0000091 |
| HPO |
HP:0020132 |
Thickening of the tubular basement membrane |
"Increase in thickness of the basement membrane of the tubulus of the kidney." [PMID:20142905] |
— |
HP:0020131 |
| HPO |
HP:0020133 |
Podocyte hypertrophy |
"Increased visceral epithelial cell size, with or without cytoplasmic protein droplets." [PMID:15610239, PMID:32866505] |
Podocytes, also called visceral glomerular epithelial cells, are terminally differentiated cells that line the outer surface of the glomerular basement membrane. Podocytes prevent protein leakage into the urinary space, and also provide important tensile strength to the glomerular capillaries, by opposing the hydrostatic pressure from within. In contrast to glomerular endothelial and mesangial cells, podocytes do not typically proliferate. Studies have shown that following podocyte loss, the inability of podocytes to proliferate contributes to the development of glomerulosclerosis. Consequently, in order to cover the denuded glomerular basement membrane, podocytes increase in size due to hypertrophy. Although this is initially compensatory, podocyte hypertrophy is likely maladaptive, and contributes to glomerulosclerosis. |
HP:0031265 |
| HPO |
HP:0020134 |
Increased urine neutrophil count |
"Abnormally increased count of neutrophils in urine." [JGM:lccarmody] |
— |
HP:0012085 |
| HPO |
HP:0020135 |
Myofibromatosis |
"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." [NCIT:C3742, PMID:29364448] |
— |
HP:0031459 |
| HPO |
HP:0020136 |
Anticardiolipin IgG antibody positivity |
"The presence of circulating IgG autoantibodies to cardiolipin." [PMID:30256771] |
— |
HP:0003613 |
| HPO |
HP:0020137 |
Anticardiolipin IgM antibody positivity |
"The presence of circulating IgM autoantibodies to cardiolipin." [PMID:30256771] |
— |
HP:0003613 |
| HPO |
HP:0020138 |
History of recent animal bite |
"Medical history of a recent bite injury due to an animal." [PMID:26179017] |
The spectrum of injury is broad and infectious complications, generally due to unusual pathogens, are common. |
HP:0032443 |
| HPO |
HP:0020139 |
History of recent insect bite |
"Medical history of a recent bite injury due to an insect." [PMID:24364549] |
— |
HP:0032443 |
| HPO |
HP:0020140 |
History of recent tick bite |
"Medical history of a recent bite injury due to a tick." [PMID:24364549] |
— |
HP:0020139 |
| HPO |
HP:0020141 |
Blood pressure substantially higher in legs than arms |
"An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm." [PMID:12101189] |
This feature may be seen, for instance, in Takayasu arteritis. |
HP:0030972 |
| HPO |
HP:0020142 |
Blood pressure substantially higher in arms than legs |
"An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm." [PMID:28377475] |
This feature can be observed in aortic coarctation. |
HP:0030972 |
| HPO |
HP:0020143 |
Tracheal duplication cyst |
"A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium." [PMID:25313910] |
Tracheal duplication cyst is a rare congenital malformation presenting in childhood with stridor or dysphagia from a mass effect on the trachea or esophagus. The features of the tracheal duplication cyst are similar to those of bronchogenic duplication cyst and laryngeal duplication cyst, but with histopathological features of the trachea. The trachea is known to originate from the respiratory diverticulum, a ventral outpouching of foregut lumen. The postulated embryological basis of a tracheal duplication cyst may be similar to that of the anomalous bronchi and is a result of abnormal budding of the bronchial tree during the fourth to sixth weeks of embryogenesis. |
HP:0002778 |
| HPO |
HP:0020144 |
Calcium phosphate crystalluria |
"The presence of calcium phosphate crystals in the urine." [PMID:26509782, PMID:3599249, PMID:8671802] |
Calcium phosphate crystals are pleiomorphic, often appearing as birefringent stars or needles, occurring in isolation or in clumps. Plates are granular and non-birefringent. |
HP:0020074 |
| HPO |
HP:0020145 |
Calcium oxalate crystalluria |
"The presence of calcium oxalate crystals in the urine." [PMID:26509782, PMID:3599249, PMID:8671802] |
There are two types of calcium oxalate crystals, the dihydrate (or Wedellite) and the monohydrate (orWhewellite), which are frequently found together in the same sample. The former have mostly a typical bipyramidal shape, while the latter are more pleiomorphic, although the ovoid shape is the most frequent. Bipyramidal crystals are birefringent only when large or in aggregates, but even then birefringence is usually not intense. The monohydrates, however, are always strongly birefringent. Calcium oxalate may be found in normal subjects, often as a consequence of ingestion of foods like chocolate, beet-root, peanuts, rhubarb, spinach, etc., in stoneformers, in patients with hyperoxaluria, or after ethylene glycol poisoning. |
HP:0020074 |