Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| lysosomal storage disease | MONDO_0002561 | [A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.] |
| STAM binding protein measurement | EFO_0010796 | [Quantification of the amount of STAM binding protein in a sample] |
| Alphavirus infectious disease | EFO_0007142 | [A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite., Virus diseases caused by members of the alphavirus genus of the family togaviridae.] |
| Togaviridae infectious disease | EFO_0007513 | [A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses., Virus diseases caused by the togaviridae.] |
| Saccharomyces bayanus MCYC 623 | NCBITaxon_226127 | |
| short-limb skeletal dysplasia with severe combined immunodeficiency | MONDO_0008704 | [Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.] |
| T-B- severe combined immunodeficiency | MONDO_0017855 | [T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.] |
| programmed death-ligand 1 measurement | EFO_0010793 | [Quantification of the amount of programmed death-ligand 1 in a sample] |
| appendicitis | EFO_0007149 | [A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever., Acute inflammation of the vermiform appendix.] |
| diverticulitis | EFO_1001460 | [An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis., An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.] |
| inflammatory bowel disease | EFO_0003767 | [A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type., A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]] |
| Saccharomyces mikatae IFO 1815 | NCBITaxon_226126 | |
| acromesomelic dysplasia 2A | MONDO_0008703 | [An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.] |
| achondrogenesis | MONDO_0019648 | [Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.] |
| acromesomelic dysplasia | MONDO_0019696 | [A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type] |
| signaling lymphocytic activation molecule 1 measurement | EFO_0010794 | [Quantification of the amount of signaling lymphocytic activation molecule 1 in a sample] |
| aortic valve insufficiency | EFO_0007148 | [Dysfunction of the aortic valve characterized by incomplete valve closure., An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.] |
| vascular insufficiency disorder | MONDO_0020674 | |
| achondrogenesis type II | MONDO_0008702 | [Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.] |
| type 2 collagenopathy | MONDO_0022800 | [Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.] |