Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
femoral neck size	EFO_0010076	[Quantification of the size of the femoral neck.]
hip bone size	EFO_0004844	[Is a quantification of the size of a human hip bone.]
response to belimumab	EFO_0010077	[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 belimumab stimulus. Belimumab is a human monoclonal antibody that inhibits B-cell activating factor (BAFF), primarily used to treat sysmteic lupus erythematosus]
trochanter size	EFO_0010074	[Quantification of the size of the femoral trochanter.]
intertrochanteric region size	EFO_0010075	[Quantification of the size of the intertrochanteric region of the femur.]
toothache	EFO_0010072	[A painful sensation originating from a tooth.]
number of teeth measurement	EFO_0010073	[Quantification of the number of natural teeth an individual has]
nerve conduction amplitude	EFO_0010070	[Quantification of the amplitude of nerve conduction, often used to measure peripheral nerve function.]
nerve conduction measurement	EFO_0010082	[Quantification of any aspect of the act of transmitting electricty along a nerve.]
insect adult nervous system	UBERON_6003559
postherpetic neuralgia	MONDO_0041052
oxaliplatin	CHEBI_31941	[Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI), Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development., A platinum coordination entity that has formula C6H14N2.C2O4.Pt.]
Congenital disorder of glycosylation with skin involvement	Orphanet_371200
methylmalonic aciduria cblb type	EFO_0009074	[An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.]
neuropathy, hereditary motor and sensory, type vib	EFO_0009075	[Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).]
nonsyndromic deafness	EFO_0009076	[An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.]
deafness	EFO_0001063	[An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing., An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears., A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.]
premature chromatid separation trait	EFO_0009077	[Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004).]
intellectual developmental disorder with dysmorphic facies and ptosis	EFO_0009070	[Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).]
malignant hyperthermia, susceptibility to, 1	EFO_0009071	[Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997).]