Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lincomycin	CHEBI_6472
Proteus-like syndrome	MONDO_0017571	[Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.]
Proteus syndrome	MONDO_0008318	[Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.]
46,XX disorder of sex development-anorectal anomalies syndrome	MONDO_0017573	[46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.]
pathogenicity design	EFO_0001761	[A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed.]
injury design	EFO_0001760	[An injury study design type is where the response of an organism(s) to injury or damage is studied.]
all pairs	EFO_0001763	[An all pairs study design type is where all labeled extracts are compared to every other labeled extract.]
array specific design	EFO_0004668	[Methodological variation study design specific for array technology]
stimulus or stress design	EFO_0001762	[A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc.]
dye swap design	EFO_0001765	[A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip]
array platform variation design	EFO_0001764	[An experiment in which the array platform is compared, e.g. Agilent versus Affy.]
hardware variation design	EFO_0001767	[A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision.]
obsolete_ex vivo design	EFO_0001766
imprinting design	EFO_0001747	[An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure).]
development or differentiation design	EFO_0001746	[A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions.]
innate behavior design	EFO_0001749	[An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees.]
genotype design	EFO_0001748	[A genotype study design type compares genotype, haplotype, or other individual genetic characteristics.]
familial infantile gigantism	MONDO_0017581
mirror polydactyly-vertebral segmentation-limbs defects syndrome	MONDO_0017583	[Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.]
11p15.4 microduplication syndrome	MONDO_0017580	[11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.]