Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| gastric ulcer | EFO_0009454 | [An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. [ NCIt:P378 ], An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.] |
| peptic ulcer disease | MONDO_0004247 | [A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding.] |
| Peptic ulcer | HP_0004398 | [The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.] |
| immunodeficiency 27A | MONDO_0008856 | |
| inherited susceptibility to mycobacterial diseases | MONDO_0019146 | [Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.] |
| Trichomonas vaginalis | NCBITaxon_5722 | |
| triacylglycerol 58:6 measurement | EFO_0010440 | [The quantification of triacylglycerol 58:6 levels in some body fluid, used as a biomarker for disease.] |
| MHC class II deficiency | MONDO_0008855 | [Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.] |
| non-SCID combined immunodeficiency | MONDO_0018814 | |
| Barber-Say syndrome | MONDO_0008853 | [Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.] |
| hypertrichosis of eyelid | MONDO_0001334 | [A hypertrichosis (disease) that involves the eyelid.] |
| secondary ectropion | MONDO_0020162 | |
| congenital entropion | MONDO_0020159 | |
| microblepharon-ablephara syndrome | MONDO_0020154 | |
| obsolete congenital central hypoventilation syndrome | MONDO_0008852 | |
| Indian | HANCESTRO_0487 | |
| South Asian | HANCESTRO_0006 | [Includes individuals who either self-report or have been described by authors as South Asian or one of the sub-populations from this region (e.g Asian Indian). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap BEB, GIH, ITU, PJL and STU populations.] |
| India | India | |
| Cooper-Jabs syndrome | MONDO_0008850 | [Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.] |
| Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency | Orphanet_248305 |