Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Hypoplastic amelogenesis imperfecta	Orphanet_100031
fructosamine measurement	EFO_0009303	[Quantification of levels of fructosamine present in a sample.]
percent glycated albumin	EFO_0009304	[Quantification of the percentage of serum albumin in a sample that is glycated.]
glycated albumin measurement	EFO_0009307	[The determination of the amount of glycated albumin related peptide present in a biological specimen.]
total glycated albumin	EFO_0009305	[Quantification of the total amount of glycated albumin in a sample.]
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	EFO_0009300	[NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).]
intellectual disability	EFO_0003847	[Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)]
neurodevelopmental disorder	MONDO_0700092	[A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.]
dystonia 28, childhood-onset	EFO_0009301	[Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life., Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.]
Rare genetic dystonia	Orphanet_391799
persistent combined dystonia	MONDO_0018329
obsolete_partial duplication of chromosome X	Orphanet_263768
Frey Syndrome	EFO_1000940	[An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5), An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)]
autonomic nervous system disease	EFO_0009532	[A disease involving the autonomic nervous system.]
obsolete_alpha-thalassemia and related diseases	Orphanet_275745
frozen shoulder	EFO_1000941	[Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.]
connective tissue disease	EFO_1001986	[A disease involving the connective tissue., A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.]
obsolete_male reproductive system	EFO_0000970	[The reproductive system in men includes the prostate, the testes, and the penis., The male reproductive organs. They are divided into the external organs (PENIS; SCROTUM;and URETHRA) and the internal organs (TESTIS; EPIDIDYMIS; VAS DEFERENS; SEMINAL VESICLES; EJACULATORY DUCTS; PROSTATE; and BULBOURETHRAL GLANDS)., Gonochoristic organism that can produce male gametes., The internal and external reproductive organs in the male.]
obsolete_hermaphrodite gonad	EFO_0000971
atazanavir measurement	EFO_0009306	[Quantification of the total amount of atazanavir, typically assayed in hair. This is used as a measure of exposure to the drug.]