HPO
Db Link Name Definition Comment Is a
HPO HP:0020059 Increased red blood cell count "An abnormal elevation above the normal number of red blood cells per volume in the circulation." [] HP:0020058
HPO HP:0020060 Decreased red blood cell count "An abnormal reduction below the normal number of red blood cells per volume in the circulation." [] HP:0020058
HPO HP:0020061 Abnormal hemoglobin concentration "Any deviation from the normal concentration of hemoglobin in the blood." [] HP:0001877
HPO HP:0020062 Decreased hemoglobin concentration "An abnormal reduction below normal hemoglobin concentration in the circulation." [] HP:0020061
HPO HP:0020063 Increased hemoglobin concentration "An abnormal elevation above normal hemoglobin concentration in the circulation." [] HP:0020061
HPO HP:0020064 Abnormal eosinophil count "Any deviation from the normal number of eosinophils per volume in the blood circulation." [] HP:0001879, HP:0032309
HPO HP:0020071 Viremia "The presence of virus in the blood." [] HP:0031863
HPO HP:0020072 Persistent EBV viremia "Persistent presence of Epstein-Barr virus in the blood." [] Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission. HP:0032248
HPO HP:0020073 Hypopigmented macule "A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation." [PMID:24023426] A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin. HP:0012733
HPO HP:0020074 Crystalluria "The presence of crystals in the urine." [PMID:26509782] Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir). HP:0003110
HPO HP:0020075 Leucine crystalluria "The presence of leuucine crystals in the urine." [PMID:8671802] Leucine crystals are oily-looking spheres with concentric striations, which form pseudo-Maltese crosses under polarized light. Leucine, like tyrosine, which appears as thin needles often aggregated inbundles or rosettes, is typical of patients with hepatic failure. HP:0020074
HPO HP:0020076 Wrist ganglion "A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule." [PMID:17488856, PMID:19468907] Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency. HP:0003019
HPO HP:0020077 Carnitinuria "An elevated level of carnitine in the urine." [PMID:11196742, UCDenver:tjcallahan] HP:0031980
HPO HP:0020078 Alaninuria "An increased level of alanine in the urine." [UCDenver:tjcallahan] HP:0033100
HPO HP:0020079 Beta-alaninuria "An increased level of beta-alanine in the urine." [] Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position. HP:0033098
HPO HP:0020080 Erythrocyte inclusion bodies "Nuclear or cytoplasmic aggregates of substances in red blood cells." [] HP:0001877
HPO HP:0020081 Pappenheimer bodies "A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain)." [PMID:15054821, PMID:21250106] HP:0020080
HPO HP:0020082 Heinz bodies "A type of erythrocyte inclusion composed of denatured hemoglobin." [PMID:21250106, PMID:24713708] HP:0020080
HPO HP:0020083 Furuncle "An infection of a hair follicle that extends subcutaneously, forming an abscess." [] HP:0025084
HPO HP:0020084 Carbuncle "A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle." [PMID:32119346] HP:0025084
HPO HP:0020085 Infection following live vaccination "An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens." [] HP:0032101
HPO HP:0020086 BCGitis "Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination." [PMID:24722620] The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. HP:0020085
HPO HP:0020087 BCGosis "Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis." [PMID:21412596, PMID:24722620] The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. HP:0020085
HPO HP:0020088 Post-vaccination measles "Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases." [PMID:29152266] HP:0020085
HPO HP:0020089 Post-vaccination rubella "Infection with the rubella virus of the live-attenuated vaccine." [] HP:0020085