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 |