Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| caffeic acid 3-sulfate | CHEBI_90242 | [An aryl sulfate that is trans-caffeic acid in which the phenolic hydrogen at position 3 is replaced by a sulfo group. A metabolite from coffee.] |
| cis-aconitate(3-) | CHEBI_16383 | [An aconitate(3-) that has formula C6H3O6.] |
| hyperestrogenism | EFO_0009004 | [Abnormally high level of estrogen. [ NICHD NCI ]] |
| obsolete_progeria syndrome | EFO_0000671 | [A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis., An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.] |
| prognostic subgroup | EFO_0000672 | [A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc] |
| prostate adenocarcinoma | EFO_0000673 | [A carcinoma that arises from glandular epithelial cells of the prostate gland] |
| obsolete_protocol | EFO_0000674 | |
| Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome | EFO_0009009 | [A pyogenic autoinflammatory syndrome with skin involvement.] |
| obsolete_protocol factor | EFO_0000675 | [A protocol factor is an experimental factor which describes factors that describe the protocol design of an experiment.] |
| mediastinal malignant lymphoma | MONDO_0004021 | [A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.] |
| pterygium | EFO_0000678 | [A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.] |
| conjunctiva | UBERON_0001811 | [The mucous membrane that lines the inner surface of the eyelids and the front of the eyeball.] |
| obsolete_platform | EFO_0000657 | [The specific version (such as manufacturer, model, etc.) of a technology that is used to carry out a laboratory or computational experiment.] |
| plexiform neurofibroma | EFO_0000658 | [A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH)., An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.), A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)] |
| obsolete_ploidy | EFO_0000659 | [The number of single sets of chromosomes in the cell or an organism e.g., haploid, diploid, triploid, etc.] |
| obsolete_lymphoproliferative syndrome | Orphanet_238510 | |
| obsolete_nasal encephalocele | Orphanet_141118 | |
| Collinsella | NCBITaxon_102106 | |
| IgG4-related ophthalmic disorder | MONDO_0018675 | [A IgG4-related disease that involves the eye.] |
| Genetic renal tubular disease | Orphanet_183592 |