Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
severe combined immunodeficiency	MONDO_0015974	[Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.]
recombinase activating gene 1 deficiency	MONDO_0000572	[A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.]
serum metabolite measurement	EFO_0005653	[quantification of some metabolite in serum]
CME-L1	EFO_0005650	[Cells are from the ventral leg imaginal disc of the third instar larval stage. Transcriptome analysis suggests similarity to cells in the tibia or femur region of a leg disc (Cherbas et al., 2011).]
Fanconi renotubular syndrome 1	MONDO_0024525
primary Fanconi syndrome	MONDO_0007600	[A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.]
response to protease inhibitor	EFO_0005657	[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 protease inhibitor, a class of antiviral drugs]
velocity of sound measurement	EFO_0005654	[quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone]
Kostmann syndrome	MONDO_0012548	[Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.]
response to cytosine arabinoside	EFO_0005655	[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 cytosine arabinoside stimulus. Cytosine arabinoside is a cytidine analogue used as a drug in the treatment of various carcinomas.]
autosomal recessive ataxia, Beauce type	MONDO_0012549	[A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.]
plasma beta-amyloid 1-40 measurement	EFO_0005659	[Is the quantification of Beta-amyloid 1-40 in plasma, typically used as a biomarker for Alzheimer's Disease]
Fanconi anemia complementation group N	MONDO_0012565	[Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.]
somite 3	UBERON_2000732	[Undifferentiated mesodermal component of early trunk segment 3 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.]
congenital anomalies of kidney and urinary tract 1	MONDO_0012561	[Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.]
congenital anomaly of kidney and urinary tract	MONDO_0019719	[A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.]
obsolete_Wiedemann-Rautenstrauch syndrome	Orphanet_3455	[Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.]
Intellectual disability-developmental delay-contractures syndrome	Orphanet_3454
oxygen saturation measurement	EFO_0005682	[quantification of the relative amount of oxygen that is dissolved or carried in a given medium]
Autoimmune polyendocrinopathy type 1	Orphanet_3453	[Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.]