Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| juvenile idiopathic arthritis | EFO_0002609 | [Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form., Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).] |
| enthesitis | MONDO_0024419 | [Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.] |
| lung transplantation | EFO_0010721 | [A lung transplantation is a surgical procedure for patients with progressive respiratory diseases, including chronic obstructive pulmonary disease, cystic fibrosis, pulmonary fibrosis, pulmonary hypertension or sarcoidosis. The procedure involves either a single lung transplant, bilateral sequential lung transplant or heart-lung transplant.] |
| psoriasis-related juvenile idiopathic arthritis | EFO_0009733 | [Childhood arthritis typically associated with psoriasis., A form of juvenile idiopathic arthritis that is related to psoriasis.] |
| psoriatic arthritis | EFO_0003778 | [Joint inflammation associated with psoriasis., A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.] |
| unspecified juvenile idiopathic arthritis | EFO_0009734 | [Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. [ Orphanet:91140 ], Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.] |
| Cataract - deafness - hypogonadism | Orphanet_1383 | [Cataract - deafness - hypogonadism, is an extremely rare multiple congenital abnormality syndrome described only in three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.] |
| obsolete_Mowat-Wilson syndrome due to monosomy 2q22 | Orphanet_261537 | |
| Cataract - nephropathy - encephalopathy | Orphanet_1380 | [Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.] |
| Cataract - intellectual disability - anal atresia - urinary defects | Orphanet_1381 | |
| technician | EFO_0009739 | [A person employed to look after technical equipment or do practical work in a laboratory.] |
| Respiratory insufficiency due to muscle weakness | HP_0002747 | |
| co-investigator | EFO_0009735 | [One of two or more scientists working together on a research project. A person that equally contributes to the preparation of the protocol, and shares the responsibilities of this position, including medical monitoring (particularly toxicity/safety), liaison with statisticians over analysis, and the generation of a report containing the results. [ NCI ]] |
| investigator | EFO_0001739 | [An individual who conducts scientific research. In a clinical setting this individual actually conducts and/or supervises the clinical investigation and study-related procedures. The investigator monitors the safety of the trial subjects and investigational staff (under whose immediate direction an agent is administered or dispensed to a subject). The investigator collects and analyses data and study documents, and provides reports in compliance with applicable requirements. [ NCI ]] |
| principal investigator | EFO_0009736 | [The principal or lead person who carries out a formal inquiry or investigation.] |
| obsolete_Catel-Manzke syndrome | Orphanet_1388 | [Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.] |
| Populus tremula x Populus tremuloides | NCBITaxon_47664 | |
| data curator | EFO_0009737 | [A person who organizes, integrates, and annotates data collected from various sources in order that the value of the data is maintained over time and the data remains available for reuse and preservation.] |
| curator | EFO_0001733 | [The person in charge of the care and superintendence of something, especially a collection.] |
| Cortical blindness - intellectual disability - polydactyly | Orphanet_1389 |