Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| bone sarcoma | MONDO_0021054 | [A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.] |
| obsolete_Okihiro syndrome due to 20q13 microdeletion | Orphanet_261638 | |
| blind loop syndrome | EFO_0007175 | [An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption., A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.] |
| oxoglutaricaciduria | MONDO_0008759 | [Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.] |
| metabolic epilepsy | MONDO_0100033 | [Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.] |
| tricarboxylic acid cycle disorder | MONDO_0016790 | [An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.] |
| mitochondrial DNA depletion syndrome 4a | MONDO_0008758 | [Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.] |
| alopecia universalis congenita | MONDO_0008757 | [The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.] |
| alopecia, isolated | MONDO_0000005 | |
| alopecia - intellectual disability syndrome | MONDO_0008756 | [Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.] |
| boutonneuse fever | EFO_0007179 | [A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.] |
| spotted fever | EFO_1002047 | [A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.] |
| Moynahan syndrome | MONDO_0008755 | |
| hyperpigmentation of the skin | MONDO_0019289 | |
| alopecia - contractures - dwarfism - intellectual disability syndrome | MONDO_0008754 | [Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.] |
| alkaptonuria | MONDO_0008753 | [Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).] |
| pigmented conjunctival lesion | MONDO_0020203 | |
| heat tolerance | TO_0000259 | [Tolerance to warm temperatures if plant is exposed to above than permissive temperature limits. Observe differences in vigor along with subtle changes in leaf color. The optimum time to make observations would be the seedling, tillering (sensu Poaceae), flowering and mature stages. Mainly scored in terms of spikelet fertility in grasses.] |
| plant trait | TO_0000387 | [A measurable or observable characteristic of a cellular component (GO:0005575), biological process (GO:0008150) or molecular function (GO:0003674) that is part of, or has participant a plant anatomical entity (PO:0025131) and/or a plant structure development stage (PO:0009012).] |
| alpha-2-macroglobulin measurement | EFO_0020138 | [The determination of the amount of alpha-2-macroglobulin in a sample] |