Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| hemolytic anemia | EFO_0005558 | [Hemolytic anemia that is not mediated by immune mechanisms., Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.] |
| gamma chain deficiency | EFO_0005555 | [A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells., Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.] |
| spinocerebellar ataxia type 23 | MONDO_0012449 | [Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.] |
| Gilbert syndrome | EFO_0005556 | [An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice., A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.] |
| bilirubin | CHEBI_16990 | |
| hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | MONDO_0012465 | [The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.] |
| obsolete_Quebec platelet disorder | Orphanet_220436 | [Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.] |
| autosomal recessive frontotemporal pachygyria | MONDO_0012462 | |
| malignant renal pelvis neoplasm | MONDO_0044919 | [A primary or metastatic malignant neoplasm that affects the renal pelvis.] |
| obsolete_trichoodontoonychial dysplasia | Orphanet_3355 | |
| craniofacial dystonia | MONDO_0000486 | [A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.] |
| red color blindness | EFO_0005580 | [Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.] |
| furosemide | CHEBI_47426 | |
| obsolete_tricho-oculo-dermo-vertebral syndrome | Orphanet_3354 | |
| spasmodic dystonia | MONDO_0000485 | [A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.] |
| red-green color blindness | EFO_0005581 | [Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.] |
| Trichodermodysplasia - dental alterations | Orphanet_3353 | |
| obsolete_tricho-dento-osseous syndrome | Orphanet_3352 | |
| obsolete_trichodental syndrome | Orphanet_3351 | |
| neurodegeneration with brain iron accumulation 2A | MONDO_0024457 |