Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Neurogenic arthrogryposis multiplex congenita	Orphanet_1143	[Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy.]
thyroxine measurement	EFO_0005130	[quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function]
thyroxine	CHEBI_30660
rheumatoid factor seropositivity measurement	EFO_0007791	[rheumatoid factor seropositivity is the result of a measurement of circulating autoantibodies called rheumatoid factors that contribute to a number of autoimmune diseases including rheumatoid arthritis]
strain	EFO_0005135	[A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics.]
linguistic error measurement	EFO_0007798	[quantification of an individual's linguistic error rate, generally through the administration of standardised tests or the analysis of language samples by a specialist]
language measurement	EFO_0007797	[quantification of some aspect of language or language development]
language impairment	EFO_0005425	[A communication disorder that involves the processing of linguistic information.]
cultivar	EFO_0005136	[A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species.]
parental longevity	EFO_0007796	[length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity]
longevity	EFO_0004300	[The length of time of an organism's life.]
MHPG measurement	EFO_0005133	[quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders.]
anxiety disorder measurement	EFO_0007795	[quantification of some aspect of anxiety disorder such as its presence or absence in an individual or its severity]
serum ceruloplasmin measurement	EFO_0005139	[Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease., Quantification of some ceruloplasmin in the blood. ]
Wilson disease	MONDO_0010200	[A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.]
superoxide dismutase [Cu-Zn] measurement	EFO_0020758	[The determination of the amount of superoxide dismutase [Cu-Zn] in a sample]
syntaxin-1a measurement	EFO_0020759	[The determination of the amount of syntaxin-1a in a sample]
conduction system disorder	EFO_0005137	[A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block, A disease involving the conducting system of heart.]
acquired long QT syndrome	EFO_0005138	[A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome.]
syntactic complexity measurement	EFO_0007799	[quantification of an individual's ability to form syntactically complex language constructs, generally through the administration of standardised tests or the analysis of language samples by a specialist]