Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| invasive breast ductal carcinoma | EFO_0000186 | [The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.] |
| breast ductal adenocarcinoma | EFO_0006318 | [A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.] |
| obsolete_Cockayne syndrome type 2 | Orphanet_90322 | [Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS.] |
| Kaposi's sarcoma cell | EFO_0000187 | [A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)., A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur.] |
| Kaposi's sarcoma | EFO_0000558 | [A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).] |
| obsolete_liver carcinoma | EFO_0000188 | |
| obsolete_liver heptocellular carcinoma | EFO_0000189 | |
| spermidine | CHEBI_16610 | [A triamine that is the 1,5,10-triaza derivative of decane.] |
| obsolete_Brody myopathy | Orphanet_53347 | |
| response to wounding | GO_0009611 | [Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism.] |
| response to virus | GO_0009615 | [Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.] |
| obsolete_Rosselli-Gulienetti syndrome | Orphanet_90339 | [Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly.] |
| Not NOTCH3-related small vessel disease of the brain | Orphanet_77304 | |
| Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities | Orphanet_77300 | |
| obsolete_monosomy 9q22.3 | Orphanet_77301 | |
| Oculo-oto-facial dysplasia | Orphanet_77302 | |
| obsolete_X-linked dystonia-parkinsonism | Orphanet_53351 | [X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.] |
| obsolete_Blau syndrome | Orphanet_90340 | [Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.] |
| response to abiotic stimulus | GO_0009628 | [ Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. ] |
| obsolete_autosomal recessive cutis laxa type 1 | Orphanet_90349 |