Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
disorder of folate metabolism and transport	MONDO_0017313
hydrocephaly-tall stature-joint laxity syndrome	MONDO_0009363	[Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.]
response to flupirtine	EFO_0007809	[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 flupirtine stimulus. Flupirtine is an aminopyridine that functions as a centrally acting non-opioid analgesic that was originally used as an analgesic for acute and chronic pain but due to issues with liver toxicity, the European Medicines Agency restricted its use to acute pain, for no more than two weeks, and only for people who cannot use other painkillers]
growth delay-hydrocephaly-lung hypoplasia syndrome	MONDO_0009362	[Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.]
response to bortezomib	EFO_0007808	[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 bortezomib stimulus. Bortezomib is a therapeutic proteasome inhibitor approved for treating relapsed multiple myeloma and mantle cell lymphoma.]
Allan-Herndon-Dudley syndrome	MONDO_0010354	[Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.]
pure or complex X-linked spastic paraplegia	MONDO_0017916
erythrocyte cadmium measurement	EFO_0007807	[Quantification of the amount of cadmium present in erythrocytes. Cadmium in erythrocytes is a valid biomarker of exposure and body burden of cadmium, a non-essential toxic metal with multiple adverse health effects]
deafness-intellectual disability, Martin-Probst type syndrome	MONDO_0010353	[Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.]
nephrogenic syndrome of inappropriate antidiuresis	MONDO_0010356	[Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.]
syndromic X-linked intellectual disability Claes-Jensen type	MONDO_0010355
cotinine measurement	EFO_0007813	[quantification of cotinine in a sample]
Plasmodium falciparum antigen IgG measurement	EFO_0007812	[measurement of the IgG antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection]
Plasmodium falciparum antigen IgG3 measurement	EFO_0007811	[measurement of the IgG3 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection]
Plasmodium falciparum antigen IgG1 measurement	EFO_0007810	[measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection]
sleep apnea measurement	EFO_0007817	[quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events]
McKusick-Kaufman syndrome	MONDO_0009367	[McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.]
response to trametinib	EFO_0007816	[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 trametinib stimulus.]
response to dabrafenib	EFO_0007815	[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 dabrafenib stimulus.]
refractive error measurement	EFO_0007814	[quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition]