Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| corneal dystrophy-perceptive deafness syndrome | MONDO_0009015 | [Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.] |
| Ta stage | EFO_0005309 | [Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer.] |
| T stage | EFO_0004928 | [primary tumor staging] |
| hepatic lesion | EFO_0020920 | [Liver lesions are abnormal growths of hepatic cells that may be noncancerous (benign) or cancerous.] |
| obsolete_X-linked spinocerebellar ataxia type 4 | Orphanet_85292 | |
| cognitive inhibition measurement | EFO_0007969 | [quantification of cognitive inhibition or executive inhibition in an individual with ADHD, measured for example using the Stroop test] |
| hemorrhagic stroke | EFO_0020921 | [A stroke caused by a bleed on the brain.] |
| HSD10 disease, atypical type | Orphanet_85295 | |
| torsades de pointes | EFO_0005307 | [A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG., A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.] |
| tissue factor pathway inhibitor measurement | EFO_0007968 | [quantification of the amount of tissue factor pathway inhibitor in a sample] |
| hospitalisation | EFO_0020922 | [Admission to hospital for treatment.] |
| X-linked epilepsy - learning disabilities - behavior disorders | Orphanet_85294 | |
| multiple pterygium-malignant hyperthermia syndrome | MONDO_0009012 | [Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.] |
| Toriello-Carey syndrome | MONDO_0009021 | [Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.] |
| Schinzel-Giedion syndrome | MONDO_0010010 | [Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.] |
| corticosteroid-binding globulin deficiency | MONDO_0012675 | [Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.] |
| Developmental delay - deafness, Hildebrand type | Orphanet_163988 | |
| macular corneal dystrophy | MONDO_0009020 | [Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.] |
| schneckenbecken dysplasia | MONDO_0010013 | [Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.] |
| disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis | MONDO_0017744 |