| HPO |
HP:0012198 |
Juvenile colonic polyposis |
"The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands." [HPO:probinson, PMID:17768394, PMID:25022750] |
A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells. |
HP:0004390, HP:0030255 |
| HPO |
HP:0012199 |
Cluster headache |
"A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs." [HPO:probinson, PMID:21912573] |
According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D:\nB) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated.\nC) Headache is accompanied by at least 1 of the following:\n(i) Ipsilateral conjunctival injection and/or lacrimation.\n(ii) Ipsilateral nasal congestion and/or rhinorrhea.\n(iii) Ipsilateral eyelid edema.\n(iv) Ipsilateral forehead and facial sweating.\n(v) Ipsilateral miosis and/or ptosis.\n(vi) A sense of restlessness or agitation.\nD) Attacks have a frequency from 1 every other day to 8/day.\nAdditionally, the headaches cannot attributed to another disorder. |
HP:0002315 |
| HPO |
HP:0012200 |
Abnormality of prothrombin |
"An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade." [HPO:probinson] |
— |
HP:0003256 |
| HPO |
HP:0012201 |
obsolete Reduced prothrombin activity |
— |
— |
— |
| HPO |
HP:0012202 |
Increased serum bile acid concentration |
"An increase in the concentration of bile acid in the blood." [HPO:probinson] |
— |
HP:0030984 |
| HPO |
HP:0012203 |
Onychomycosis |
"A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson] |
— |
HP:0002841 |
| HPO |
HP:0012204 |
Recurrent vulvovaginal candidiasis |
"Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida." [HPO:probinson] |
— |
HP:0002728 |
| HPO |
HP:0012205 |
Globozoospermia |
"Any structural anomaly of the acrosome resulting in a round sperm head." [HPO:probinson, MP:0002686] |
— |
HP:0012865 |
| HPO |
HP:0012206 |
Abnormal sperm motility |
"An anomaly of the mobility of ejaculated sperm." [HPO:probinson] |
— |
HP:0000025 |
| HPO |
HP:0012207 |
Reduced sperm motility |
"An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson] |
— |
HP:0012206 |
| HPO |
HP:0012208 |
Immotile sperm |
"A lack of mobility of ejaculated sperm." [HPO:probinson] |
— |
HP:0012206 |
| HPO |
HP:0012209 |
Juvenile myelomonocytic leukemia |
"Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor." [HPO:probinson, PMID:18954903] |
— |
HP:0012324 |
| HPO |
HP:0012210 |
Abnormal renal morphology |
"Any structural anomaly of the kidney." [HPO:probinson] |
— |
HP:0000077 |
| HPO |
HP:0012211 |
Abnormal renal physiology |
"An abnormal functionality of the kidney." [HPO:probinson] |
— |
HP:0000077, HP:0011277 |
| HPO |
HP:0012212 |
Abnormal glomerular filtration rate |
"An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson, PMID:25710660] |
Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations. |
HP:0012211 |
| HPO |
HP:0012213 |
Decreased glomerular filtration rate |
"An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson, PMID:25710660] |
Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. |
HP:0012212 |
| HPO |
HP:0012214 |
Increased glomerular filtration rate |
"An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson] |
— |
HP:0012212 |
| HPO |
HP:0012215 |
Testicular microlithiasis |
"The deposition of calcium phosphate microliths within the seminiferous tubules." [HPO:probinson] |
— |
HP:0000035 |
| HPO |
HP:0012216 |
Entrapment neuropathy of suprascapular nerve |
"An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region." [HPO:probinson] |
— |
HP:0012181 |
| HPO |
HP:0012217 |
Increased urinary porphobilinogen |
"Increased concentration of porphobilinogen in the urine." [HPO:probinson, PMID:11861450] |
Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. |
HP:0033455 |
| HPO |
HP:0012218 |
Alveolar soft part sarcoma |
"A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue." [HPO:probinson, PMID:11244503] |
— |
HP:0030448 |
| HPO |
HP:0012219 |
Erythema nodosum |
"An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [HPO:probinson] |
The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. |
HP:0011123 |
| HPO |
HP:0012220 |
Non-caseating epithelioid cell granulomatosis |
"The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)." [HPO:probinson] |
This feature is a hallmark of sarcoidosis. |
HP:0002955 |
| HPO |
HP:0012221 |
Pretibial blistering |
"A type of blistering that affects the skin of the tibial region." [HPO:probinson, PMID:15265795] |
— |
HP:0033800 |
| HPO |
HP:0012222 |
Arachnoid hemangiomatosis |
"The presence of multiple hemangiomas in the arachnoid." [HPO:probinson] |
— |
HP:0001028 |