Phenotypes
Db Link Name Definition Comment Is a
HPO HP:0001541 Ascites "Accumulation of fluid in the peritoneal cavity." [HPO:probinson] Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. HP:0001438
HPO HP:0000155 Oral ulcer "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [HPO:probinson] HP:0011830
HPO HP:0002027 Abdominal pain "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [HPO:probinson] Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. HP:0011458, HP:0012531
HPO HP:0002725 Systemic lupus erythematosus "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [HPO:probinson] This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. HP:0002960
HPO HP:0001945 Fever "Body temperature elevated above the normal range." [HPO:sdoelken, PMID:9759682] Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. HP:0004370
HPO HP:0007417 Discoid lupus rash "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy." [] This lesion is characterstic of discoid lupus erythematosus, but similar lesions may be observed in other diseases. HP:0000988
HPO HP:0025300 Malar rash "An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose." [] This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis. HP:0000988
HPO HP:0000093 Proteinuria "Increased levels of protein in the urine." [HPO:probinson] HP:0020129
HPO HP:0100614 Myositis "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis. HP:0011805, HP:0012649
HPO HP:0002716 Lymphadenopathy "Enlargment (swelling) of a lymph node." [HPO:probinson] HP:0002733
HPO HP:0005421 Decreased serum complement C3 "A reduced level of the complement component C3 in circulation." [https://emedicine.medscape.com/article/135478-overview] HP:0004431
HPO HP:0000083 Renal insufficiency "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [HPO:probinson] HP:0012211
HPO HP:0000709 Psychosis "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] HP:0000708
HPO HP:0030880 Raynaud phenomenon Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes. {xref="NIHR:ldaugherty"} HP:0025323
HPO HP:0001596 Alopecia "A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] HP:0011362
HPO HP:0002202 Pleural effusion "The presence of an excessive amount of fluid in the pleural cavity." [HPO:probinson] HP:0000969, HP:0002103
HPO HP:0003453 Antineutrophil antibody positivity "The presence of autoantibodies in the serum that react against neutrophils." [HPO:probinson] Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. HP:0030057
HPO HP:0040319 Dark urine "An abnormal dark color of the urine." [] http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean HP:0012086
HPO HP:0000100 Nephrotic syndrome "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [HPO:probinson] In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. HP:0012211
HPO HP:0001873 Thrombocytopenia "A reduction in the number of circulating thrombocytes." [HPO:probinson] Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). HP:0011873
HPO HP:0002315 Headache "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, PMID:15304572] Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. HP:0012638
HPO HP:0003493 Antinuclear antibody positivity "The presence of autoantibodies in the serum that react against nuclei or nuclear components." [HPO:probinson] Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. HP:0030057
HPO HP:0003613 Antiphospholipid antibody positivity "The presence of circulating autoantibodies to phospholipids." [HPO:probinson] This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. HP:0030057
HPO HP:0001882 Leukopenia "An abnormal decreased number of leukocytes in the blood." [HPO:probinson] HP:0011893
HPO HP:0002829 Arthralgia "Joint pain." [HPO:probinson] Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. HP:0012531