Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| macromolecule metabolic process | GO_0043170 | [ The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. ] |
| primary metabolic process | GO_0044238 | [ The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. ] |
| pelvic lipomatosis | EFO_1000748 | [a disease of unknown cause, characterized by overgrowth of mature, nonmalignant fat cells in the pelvic region, especially in perivesical and perirectal spaces., A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.] |
| pemphigus | EFO_1000749 | [Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus, a rare group of blistering autoimmune diseases that affect the skin and mucous membranes., Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. [ Orphanet:63455 ]] |
| parapsoriasis | EFO_1000747 | [Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids., one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying etiology. Neoplasms can develop from parapsoriasis. For example, it can develop into cutaneous T-cell lymphoma.] |
| psoriasis | EFO_0000676 | [An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp., A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.] |
| occupational dermatitis | EFO_1000744 | [Contact dermatitis associated with allergens or irritants found in the workplace., an inflammation of the skin caused by the working environment or by skin contact with a damaging substance. The symptoms and seriousness of the condition vary widely. Symptoms usually begin with redness and irritation, and occasionally, swelling.] |
| occupational disorder | MONDO_0100366 | [Any disorder that is realized in response to an exposure to occupation.] |
| palmoplantar keratosis | EFO_1000745 | [A keratosis characterized by abnormal thickening of the palms and the soles., A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.] |
| phototoxic dermatitis | EFO_1000753 | [Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight., a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die.] |
| physical urticaria | EFO_1000754 | [A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously., An urticaria induced by external physical influences.] |
| multicellular organismal process | GO_0032501 | [Any biological process, occurring at the level of a multicellular organism, pertinent to its function.] |
| obsolete_photoallergic dermatitis | EFO_1000751 | [a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die.] |
| radiodermatitis | MONDO_0043771 | [A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.] |
| perinatal jaundice due to hepatocellular damage | EFO_1000750 | [jaundice in perinates due to cellular damange of liver, Jaundice in perinates due to cellular damange of liver.] |
| reactive cutaneous fibrous lesion | EFO_1000759 | [A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.] |
| porokeratosis | EFO_1000757 | [a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer., A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.] |
| epidermal disease | MONDO_0019268 | [A skin disease that involves the epidermis.] |
| punctate palmoplantar keratoderma type III | EFO_1000758 | [a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costa’s acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma., Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later] |
| dermis elastic tissue disorder | MONDO_0019292 |