Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| mucous membrane pemphigoid | EFO_1000680 | [Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane., A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness. [ NCI ], A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.] |
| caudal fin | UBERON_4000164 | [The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines.] |
| Cheilitis | HP_0100825 | [Inflammation of the lip.] |
| inflammation | MP_0001845 | [Aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues.] |
| diffuse lipomatosis | EFO_1000687 | [A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy., diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently] |
| dyshidrosis | EFO_1000688 | [A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed), a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress] |
| dermatographia | EFO_1000685 | [An urticaria induced by stroking of the skin., Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.] |
| dermatosis papulosa nigra | EFO_1000686 | [a condition of many small, benign skin lesions on the face, a condition generally presenting on dark-skinned individuals., A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.] |
| cutaneous diphtheria | EFO_1000683 | [A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin.] |
| congenital generalized lipodystrophy | EFO_1000681 | [An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues., a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.] |
| generalized lipodystrophy | MONDO_0027766 | [Almost complete absence of subcutaneous and/or visceral adipose tissue.] |
| conjunctival pigmentation | EFO_1000682 | [Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.] |
| conjunctival deposit | MONDO_0001331 | |
| aggrecan-related bone disorder | MONDO_0018239 | |
| ecthyma | EFO_1000689 | [a skin infection characterised by crusted sores beneath which ulcers form. It is a deep form of impetigo, as the same bacteria causing the infection are involved. Ecthyma causes deeper erosions of the skin into the dermis.] |
| acrofacial dysostosis | MONDO_0018237 | |
| obsolete dysostosis with limb and face anomalies as a major feature | MONDO_0018236 | |
| Vitreous floaters | HP_0100832 | [Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.] |
| Abnormal posterior eye segment morphology | HP_0004329 | |
| Abnormality of vision | HP_0000504 | [Abnormality of eyesight (visual perception).] |