Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| meningeal tuberculosis | EFO_1000039 | [A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis., A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis] |
| Aicardi syndrome | MONDO_0010568 | [Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.] |
| triacylglycerol 52:4 | CHEBI_84660 | [A triglyceride in which the three acyl groups contain a total of 52 carbons and 4 double bonds.] |
| mesomelic dwarfism-cleft palate-camptodactyly syndrome | MONDO_0009589 | [Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.] |
| lung carcinoid tumor | EFO_1000037 | [A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.] |
| triacylglycerol 52:3 | CHEBI_84661 | [A triglyceride in which the three acyl groups contain a total of 52 carbons and 3 double bonds.] |
| Langer mesomelic dysplasia | MONDO_0009588 | [Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.] |
| indeterminate colitis | EFO_1000034 | [It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.] |
| infectious colitis | EFO_1000035 | [A viral or bacterial infectious process affecting the large intestine., A viral or bacterial infectious process affecting the large intestine] |
| granulosa cell tumor | EFO_1000032 | [A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.] |
| encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | MONDO_0009585 | |
| obsolete_hydrolethalus syndrome | EFO_1000033 | [An autosomal recessive disease characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation] |
| intellectual disability, Buenos-Aires type | MONDO_0009584 | [Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.] |
| classic homocystinuria | MONDO_0009352 | [Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.] |
| lens position anomaly | MONDO_0020236 | [Partial or complete displacement of the crystalline lens from its normal position in the eye.] |
| gamma-amino butyric acid metabolism disorder | MONDO_0000698 | [An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.] |
| inborn disorder of peptide metabolism | MONDO_0019232 | |
| advanced glycation end-product measurement | EFO_0007819 | [quantification in a sample of advanced glycation end-products (AGEs), a diverse group of molecules produced by the non-enzymatic addition of glucose to proteins, lipids, and nucleic acids, possibly associated with hyperglycemia and diabetic complications] |
| Holzgreve-Wagner-Rehder syndrome | MONDO_0009350 | [A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.] |
| athletic endurance measurement | EFO_0007818 | [quantification of some aspect of athletic endurance ] |