Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete thrombotic disorder due to a constitutional platelet anomaly	MONDO_0016636
acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation	MONDO_0100416	[Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)]
Esotropia	HP_0000565	[A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.]
acute myeloid leukemia, WT1 gene mutation	MONDO_0100417	[Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)]
familial hypodysfibrinogenemia	MONDO_0016638
acute myeloid leukemia, KIT exon 17 mutation	MONDO_0100418	[Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)]
lower limb deficiency-hypospadias syndrome	MONDO_0016639	[Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.]
acute myeloid leukemia, KIT exon 8 mutation	MONDO_0100419	[Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)]
trabecular bone score	EFO_0600018	[The trabecular bone score (TBS) is an analytical tool used to measure grey-level textures on lumbar spine (LS) dual X-ray absorptiometry (DXA) images. It is a measure of bone texture correlated with bone microarchitecture and is associated with the incidence of new fracture.]
bone fracture related measurement	EFO_0004516	[A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc.]
response to dolutegravir	EFO_0600017	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to the anti-retroviral drug dolutegravir, typically used in the treatment of HIV infection.]
obsolete thrombotic disorder due to a constitutional coagulation factors defect	MONDO_0016633
COVID-19	MONDO_0100096	[A disease caused by infection with severe acute respiratory syndrome coronavirus 2.]
Silver-Russell syndrome due to a point mutation	Orphanet_397590
ropeginterferon alfa-2b	EFO_0600014	[A long-acting formulation of recombinant interferon alpha subtype 2b (IFN-a2b), in which IFN-a2b is coupled, via proline, to polyethylene glycol (PEG), with antiviral, immunomodulating and antineoplastic activities. Upon administration of ropeginterferon alfa-2b, IFN-a2b targets and binds to specific IFN cell-surface receptors. This activates IFN-mediated signal transduction pathways and induces the transcription and translation of genes with IFN-specific response elements (ISREs). Their protein products mediate antiviral, antiproliferative, anticancer, and immune-modulating effects. The PEG moiety inhibits proteolytic breakdown and clearance of IFN-a2b, which prolongs its half-life, extends the duration of its therapeutic effects and allows less frequent dosing. The proline linker facilitates the synthesis of a single positional isomer which further increases its stability and half-life.]
response to ropeginterferon alfa-2b	EFO_0600013	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of any ropeginterferon alfa-2b stimulus. Ropeginterferon alfa-2b is a medication used to treat polycythemia vera.]
response to interferon	EFO_0007859	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of any interferon stimulus]
polycythemia vera	EFO_0002429	[Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.]
plasma beta-amyloid 1-40:1-42 ratio measurement	EFO_0600016	[Quantification of the ratio of beta-amyloid 1-40 to 1-42 proteins in a sample of blood plasma.]
isolated delta-storage pool disease	MONDO_0016630	[Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.]