Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| congenital hereditary endothelial dystrophy of cornea | MONDO_0009019 | [A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.] |
| fludrocortisone | CHEBI_50885 | [A mineralocorticoid that has formula C21H29FO5.] |
| clopidogrel metabolite measurement | EFO_0007966 | [quantification of the activate metabolite of the platelet aggregation inhibitor clopidogrel in a sample] |
| atrioventricular node disease | EFO_0005305 | [atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted, A disease involving the atrioventricular node.] |
| atrioventricular node | UBERON_0002352 | [An area of conducting tissue between the atria and the ventricles of the heart that conducts the normal electrical impulse from the atria to the ventricles.] |
| intentional overdose | EFO_0020924 | [Purposely self-inflicted medicine overdose] |
| central cloudy dystrophy of François | MONDO_0009018 | [Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.] |
| response to combination chemotherapy | EFO_0007965 | [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 combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect.] |
| ChIP-exo | EFO_0005302 | [ChIP-exo is a chromatin immunoprecipitation based method for mapping the locations at which a protein of interest (transcription factor) binds to the genome. It is a modification of the ChIP-seq protocol, improving the resolution of binding sites from hundreds of base pairs to less than one base pair.] |
| angina unstable | EFO_0020925 | [Similar to angina pectoris (stable angina) except it does not follow a pattern and can happen without physical exertion and does not go away with rest or medicine.] |
| obsolete_pancytopenia-developmental delay syndrome | Orphanet_401764 | |
| X-linked intellectual disability, Wittwer type | Orphanet_85291 | |
| brachydactyly type B2 | MONDO_0012658 | [Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.] |
| brachydactyly type B | MONDO_0019676 | [A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.] |
| sudden infant death syndrome | EFO_0005303 | [Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene.] |
| gestational serum measurement | EFO_0007964 | [quantification of some chemical compound such as a metabolite or environmental pollutant in a serum sample taken from a women at some stage during pregnancy] |
| noninfective encephalitis | EFO_0020926 | [Encephalitis not caused by infection] |
| X-linked intellectual disability, Wilson type | Orphanet_85290 | |
| atrial tachycardia | EFO_0005308 | [A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)] |
| obsolete_X-linked intellectual disability, Cabezas type | Orphanet_85293 |