Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| histidine triad nucleotide-binding protein 1 measurement | EFO_0020450 | [The determination of the amount of histidine triad nucleotide-binding protein 1 in a sample] |
| histone acetyltransferase kat6a measurement | EFO_0020451 | [The determination of the amount of histone acetyltransferase kat6a in a sample] |
| histone acetyltransferase type b catalytic subunit measurement | EFO_0020452 | [The determination of the amount of histone acetyltransferase type b catalytic subunit in a sample] |
| setariasis | EFO_0007482 | [A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria., Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.] |
| paroxysmal nonkinesigenic dyskinesia | MONDO_0700088 | [Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.] |
| paroxysmal dyskinesia | MONDO_0015427 | [Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).] |
| septicemic plague | EFO_0007481 | [A plague in which the bacteria have entered the bloodstream., A form of plague (i.e. infection from Yersinia pestis); an infection of the blood, most commonly spread by bites from infected fleas. Bacterial endotoxins may cause coagulation, which leads to formation of tiny clots throughout the body. Symptom include fever, chills, prostration, abdominal pain, shock and bleeding.] |
| Usher syndrome type 1B | MONDO_0700087 | [Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene] |
| Usher syndrome type 1 | MONDO_0010168 | [A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.] |
| scrub typhus | EFO_0007480 | [Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious., A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy.] |
| typhus | EFO_0009117 | [A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus., A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.] |
| bacterial hemorrhagic fever | MONDO_0600003 | [A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.] |
| paroxysmal nonkinesigenic dyskinesia 1 | MONDO_0700089 | [Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.] |
| sinusitis | EFO_0007486 | [An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity., A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.] |
| myopathy caused by variation in GMPPB | MONDO_0700084 | [Any myopathy in which the cause of the disease is a variation in the GMPPB gene.] |
| myopathy | EFO_0004145 | [A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness., A muscular disease in which the muscle fibers do not function resulting in muscular weakness.] |
| qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | MONDO_0016155 | |
| N-(indol-3-ylacetyl)glutamine | CHEBI_70811 | [A N(2)-acylglutamine that has indol-3-ylacetyl as the acyl group.] |
| obsolete_non-distal trisomy 10q | Orphanet_1695 | |
| obsolete_mosaic trisomy 1 | Orphanet_1692 |