Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| technology type | EFO_0005521 | [The technology type or platform of the reporters on the array.] |
| obsolete_homozygous familial hypercholesterolemia | Orphanet_391665 | |
| large artery stroke | EFO_0005524 | [stroke caused by the blockage of blood flow in one of the large arteries feeding the brain, Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.] |
| substrate type | EFO_0005522 | [Controlled terms for descriptors of types of array substrates.] |
| surface type | EFO_0005523 | [Controlled terms for descriptors for coating of the substrate.] |
| parasitemia measurement | EFO_0005528 | [quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection] |
| Chagas cardiomyopathy | EFO_0005529 | [a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi, A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.] |
| American trypanosomiasis | EFO_0008559 | [A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. [ NCI ], American trypanosomiasis, commonly known as Chagas disease (ChD), is a tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates. [ ORDO ]] |
| response to alcohol | EFO_0005526 | [physiological response of an organism, eg in terms of flushing, to consuming alcohol] |
| obsolete_distal trisomy 17q | Orphanet_3379 | |
| ejection fraction measurement | EFO_0005527 | [quantification of the volumetric fraction of blood pumped out of the left and right ventricle with each heartbeat or cardiac cycle] |
| Finnish upper limb-onset distal myopathy | MONDO_0012410 | [Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.] |
| giant axonal neuropathy 2 | MONDO_0012411 | [Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.] |
| L1 larva | EFO_0005508 | [C. elegans first stage larva. At 25 Centigrade, it ranges 14-25.5 hours after fertilization, 0-11.5 hours after hatch.] |
| L4 larva | EFO_0005509 | [C. elegans fourth stage larva. At 25 Centigrade, it ranges 40-49.5 hours after fertilization, 26-35.5 hours after hatch.] |
| neuronal ceroid lipofuscinosis 10 | MONDO_0012414 | [A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.] |
| syndromic microphthalmia type 5 | MONDO_0012413 | [Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.] |
| Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | Orphanet_3390 | |
| obsolete_tuberculosis | Orphanet_3389 | |
| obsolete_neural tube defect | Orphanet_3388 |