Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| hemangioma of subcutaneous tissue | EFO_1000707 | [A hemangioma arising from the subcutaneous soft tissues.] |
| granuloma annulare | EFO_1000704 | [Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown., a fairly rare, chronic dermatological condition which presents as reddish bumps on the skin arranged in a circle or ring. It can initially occur at any age and is significantly more common in females (80/20 ratio).] |
| granulomatous dermatitis | EFO_1000705 | [An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells., a rare skin disorder in which there is a particular pattern of granulomatousinflammation. The classic original clinical description of interstitialgranulomatous dermatitiswas of linear erythematous palpable cords on the lateral aspects of the trunk, called “the rope sign”.] |
| folliculitis | EFO_1000702 | [Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds., the infection and inflammation of one or more hair follicles. The condition may occur anywhere on the skin with the exception of the palms of the hands and soles of the feet. The rash may appear as pimples that come to white tips on the face, chest, back, arms, legs, and head.] |
| obsolete_pyruvate dehydrogenase phosphatase deficiency | Orphanet_79246 | |
| fox fordyce disease | EFO_1000703 | [Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants., a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed.] |
| fibroepithelial polyp of urethra | EFO_1000700 | [A benign polypoid lesion of mesodermal origin that arises from the urethra., Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis] |
| urethral disease | EFO_0009689 | [A disease involving the urethra. [database_cross_reference: MONDO:DesignPattern], A disease involving the urethra.] |
| follicular mucinosis | EFO_1000701 | [an uncommon inflammatory disorder that characteristically presents as follicular papules and/or indurated plaques., A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.] |
| cutaneous focal mucinosis | MONDO_0021653 | |
| alopecia | MONDO_0004907 | [Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.] |
| sebaceous gland anomaly | MONDO_0019286 | [A epidermal appendage anomaly that involves the sebaceous gland.] |
| obsolete_pyruvate dehydrogenase E1-alpha deficiency | Orphanet_79243 | |
| pantothenic acid mesurement | EFO_0010519 | [Quantification of pantothenic acid levels in a sample.] |
| carboxamide measurement | EFO_0010466 | [Quantification of carboxamide levels in a sample.] |
| obsolete_holocarboxylase synthetase deficiency | Orphanet_79242 | |
| oxalate measurement | EFO_0010517 | [Quantification of oxalate levels in a sample.] |
| obsolete_pyruvate dehydrogenase E2 deficiency | Orphanet_79244 | |
| organic cation measurement | EFO_0010515 | [Quantification of organic cation levels in a sample.] |
| orotic acid measurement | EFO_0010516 | [Quantification of orotic acid levels in a sample.] |