Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_axial mesodermal dysplasia spectrum	Orphanet_1834
obsolete_lethal osteosclerotic bone dysplasia	Orphanet_1832
obsolete_Schimke immuno-osseous dysplasia	Orphanet_1830	[Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.]
Complex chromosomal rearrangement	Orphanet_263708
Chromosomal anomaly	Orphanet_68335
obsolete_ganglion	EFO_0000899	[Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com), A group of nerve cell bodies located outside the central nervous system. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia.]
4q21 microdeletion syndrome	Orphanet_238750	[The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.]
Infundibulopelvic stenosis - multicystic kidney	Orphanet_1849
Genetic renal or urinary tract malformation	Orphanet_183539
obsolete_autosomal dominant limb-girdle muscular dystrophy type 1H	Orphanet_238755
eosinophilic gastrointestinal disease	MONDO_0018438
obsolete_bilateral renal agenesis	Orphanet_1848
Trichophyton rubrum	NCBITaxon_5551
Reticulocyte Corpuscular Hemoglobin Distribution Width	EFO_0009230	[A measurement of the standard deviation of hemoglobin concentrations in reticulocytes, calculated as the standard deviation of hemoglobin content divided by the mean hemoglobin content. [ NCI ]]
Reticulocyte Hemoglobin Distribution Width	EFO_0009231	[A measurement of the distribution of the hemoglobin concentration in reticulocytes. [ NCI ]]
aldosterone measurement	EFO_0010219	[Quantification of the level of aldosterone in a sample]
hormone measurement	EFO_0004730	[The determination of the amount of hormone present in a sample.]
aldosterone	CHEBI_27584	[A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney., A 18-oxo steroid that has formula C21H28O5.]
random	EFO_0010216	[An oligonucleotide primer with random sequence.]
cold-induced sweating syndrome - hyperthermia spectrum	MONDO_0018431