Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Juvenile Polyp | EFO_1000310 | [A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.] |
| 3,3',5-triiodo-L-thyronine | CHEBI_18258 | |
| Camptodactyly | HP_0012385 | [The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.] |
| Flexion contracture | HP_0001371 | [A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.] |
| Newcastle disease | EFO_0007395 | [Newcastle disease is a contagious bird disease affecting many domestic and wild avian species; it is transmissible to humans. It was first identified in Java, Indonesia, in 1926, and in 1927, in Newcastle-upon-Tyne, England (whence it got its name). However, it may have been prevalent as early as 1898, when a disease wiped out all the domestic fowl in northwest Scotland. Its effects are most notable in domestic poultry due to their high susceptibility and the potential for severe impacts of an epizootic on the poultry industries. It is endemic to many countries., A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.] |
| Colorectal Diffuse Large B-Cell Lymphoma | EFO_1000191 | [A diffuse large B-cell lymphoma that arises from the colon or rectum.] |
| colorectal lymphoma | MONDO_0024656 | [An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.] |
| Colorectal Gastrointestinal Stromal Tumor | EFO_1000192 | [A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.] |
| obsolete_partial deletion of chromosome 10 | Orphanet_261811 | |
| Colorectal Adenosquamous Carcinoma | EFO_1000190 | [An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.] |
| Appendicular hypotonia | HP_0012389 | [Muscular hypotonia of one or more limbs.] |
| Hypotonia | HP_0001252 | [Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.] |
| ocular toxoplasmosis | EFO_0007399 | [A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness., Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.] |
| Acrofacial dysostosis, RodrÃguez type | Orphanet_1788 | |
| Genetic branchial arch or oral-acral syndrome | Orphanet_183576 | |
| Columnar Cell Hyperplasia of the Breast | EFO_1000199 | [A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.] |
| obsolete_acrofacial dysostosis, Catania type | Orphanet_1786 | |
| ephrin-B3 measurement | EFO_0020358 | [The determination of the amount of ephrin-B3 in a sample] |
| obsolete_acrofacial dysostosis, Palagonia type | Orphanet_1787 | |
| O-hexanoylcarnitine | CHEBI_70749 | [An O-acylcarnitine compound having hexanoyl as the acyl substituent.] |