Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
response to neuromuscular blocker	EFO_0600034	[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 a neuromuscular blocker.]
response to mitochondrial complex I inhibitor	EFO_0600033	[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 a mitochondrial complex I inhibitor (MCI) stimulus. MCI is a small molecule druggable target with downstream signalling that engages multiple neuroprotective mechanisms alleviating cognitive decline and neurodegeneration.]
Dilation of Virchow-Robin spaces	HP_0012520	[Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.]
RDH5-related retinopathy	MONDO_0100443	[A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.]
psychosis	EFO_0005407	[An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities., A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor.]
RLBP1-related retinopathy	MONDO_0100444	[A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.]
odontohypophosphatasia	MONDO_0016607	[Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.]
megalencephaly	MONDO_0016608	[A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).]
Abnormal conjugate eye movement	HP_0000549	[Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.]
acquired deficiency anemia	MONDO_0016625	[An instance of deficiency anemia that is acquired during the lifetime of the individual.]
deficiency anemia	MONDO_0001639
acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive	MONDO_0100405	[Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)]
acute myeloid leukemia	EFO_0000222	[Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.]
obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	MONDO_0016626
acute myeloid leukemia, inv(16)(p13.3;q24.3)	MONDO_0100406	[Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)]
acute myeloid leukemia, t(11;15)(p15;q35)	MONDO_0100407	[Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)]
acute myeloid leukemia, t(16;21)(q24;q22)	MONDO_0100408	[Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)]
fish oil supplement exposure measurement	EFO_0600007	[Quantification of some aspect of an individual's exposure to fish oil supplementation.]
nutritional supplement exposure measurement	EFO_0600066	[Quantification of some aspect of the consumption of dietary nutritional supplements.]
juvenile Huntington disease	MONDO_0016621	[Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.]