Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| secondary biliary cirrhosis | EFO_1001487 | [Secondary biliary cirrhosis develops due to long-term partial or total obstruction of the large bile ducts outside of the liver. When the ducts are damaged, bile (which is a substance that helps digest fat) builds up in the liver and damages the liver tissue.] |
| biliary liver cirrhosis | EFO_0004267 | [FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.] |
| Peripheral demyelination | HP_0011096 | [A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.] |
| primary biliary cirrhosis | EFO_1001486 | [Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure., An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood.] |
| Epileptic spasm | HP_0011097 | [A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages] |
| acromegaly | EFO_1001485 | [Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.] |
| Increased overbite | HP_0011094 | [Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.] |
| pain agnosia | EFO_1001484 | [Loss of the ability to perceive and process pain., An agnosia that is a loss of the ability to perceive and process pain. Pain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are adipose tissue and integument. ] |
| acromegaloid facial appearance syndrome | MONDO_0007051 | [Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.] |
| obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect | MONDO_0019039 | |
| accessory pancreas | MONDO_0019034 | [Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.] |
| saliva | UBERON_0001836 | [A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions.] |
| obsolete_malignant atrophic papulosis | Orphanet_679 | |
| X-linked intellectual disability with isolated growth hormone deficiency | MONDO_0019032 | |
| Papillon-Lefèvre syndrome | Orphanet_678 | [Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.] |
| Autosomal recessive spastic paraplegia type 28 | Orphanet_101008 | |
| thrombocytopenia with congenital dyserythropoietic anemia | MONDO_0019031 | [Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.] |
| bony labyrinth | UBERON_0001839 | [A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted].] |
| Autosomal dominant spastic paraplegia type 29 | Orphanet_101009 | |
| obsolete_hereditary chronic pancreatitis | Orphanet_676 |