Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| DAP-seq | EFO_0008705 | [DNA affinity purification sequencing] |
| pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | EFO_1001501 | [Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene., A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length.] |
| DArTSeq | EFO_0008706 | [SNP genotyping-by-sequencing with double-enzymatic digestion of DArT markers (DArTSeq)] |
| intellectual disability with language impairment | EFO_1001500 | [Intellectual disability with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).] |
| ddRADseq | EFO_0008707 | [Double digest restriction-site associated DNA marker generation (ddRADseq)] |
| DeepCAGE | EFO_0008708 | [High throughput Cap-analysis gene expression (CAGE)] |
| CROP-Seq | EFO_0008701 | [CRISPR droplet sequencing (CROP-seq)] |
| supraoptic nucleus | UBERON_0001929 | [The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. [WP,unvetted].] |
| CrY2H-seq | EFO_0008702 | [Massively multiplexed assay for deep-coverage interactome mapping (CrY2H-seq)] |
| CytoSeq | EFO_0008703 | [Gene expression cytometry (CytoSeq)] |
| DamID | EFO_0008704 | [DamID (DNA adenine methyltransferase interaction detection) is an assay for identifying DNA binding sites for a protein by fusing it to Dam methylase, and expressing it so that bound DNA gets methylated. The methylated DNA can then be isolated and analyzed.] |
| acyclovir | CHEBI_2453 | [A 2-aminopurine that has formula C8H11N5O3.] |
| asparaginase-induced acute pancreatitis | EFO_1001507 | [acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments] |
| primary angle closure glaucoma | EFO_1001506 | [An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component., A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis.] |
| angle-closure glaucoma | MONDO_0001744 | [The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.] |
| cystic liver disease | EFO_1001505 | [Cystic disease of the liver is rare and can take several forms. Cysts in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Caroli’s syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease.] |
| small vessel stroke | EFO_1001504 | [stroke caused by the blockage of blood flow in one of the small blood vessels in the brain] |
| type II diabetes mellitus with acanthosis nigricans | EFO_1001503 | [acanthosis nigricans (AN) in type 2 diabetes mellitus (T2DM)] |
| obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | Orphanet_308638 | |
| EnIGMA | EFO_0008730 | [Enzyme-assisted Identification of Genome Modification Assay] |