Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| mitochondrial part | GO_0044429 | [ Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. ] |
| mitochondrion | GO_0005739 | [ A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. ] |
| fasting C-peptide measurement | EFO_0010813 | [A measurement of serum C-peptide levels at a predetermined point after a patient has fasted.] |
| C-peptide measurement | EFO_0005187 | [A measurement of the connecting peptide, or C-peptide - a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics. As a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY). To determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. C-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes. C-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance] |
| protein intake measurement | EFO_0010810 | [Quantification of the protein intake of an individual.] |
| carbohydrate intake measurement | EFO_0010811 | [Quantification of the carbohydrate intake of an individual.] |
| Arthrogryposis - hyperkeratosis, lethal form | Orphanet_1485 | |
| Genetic syndrome with limb malformations as a major feature | Orphanet_404577 | |
| Lethal congenital contracture syndrome type 1 | Orphanet_1486 | |
| Genetic respiratory or mediastinal malformation | Orphanet_183554 | |
| spontaneous coronary artery dissection | EFO_0010820 | [The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.] |
| cellular infiltration | EFO_0009832 | [Normal or pathologic migration and accumulation of cells within tissues. [ NCI ]] |
| Contractures - ectodermal dysplasia - cleft lip/palate | Orphanet_1484 | [Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.] |
| kidney injury | EFO_0009833 | [Trauma to the kidney.] |
| extracellular region part | GO_0044421 | [ Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. ] |
| organelle | GO_0043226 | [ Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. ] |
| obsolete_ventricular septal defect | Orphanet_1480 | |
| intracellular part | GO_0044424 | [ Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. ] |
| cell part | GO_0044464 | [ Any constituent part of a cell, the basic structural and functional unit of all organisms. ] |
| intracellular | GO_0005622 |