Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lysophosphatidylcholine 17:1 measurement	EFO_0021453	[Quantification of lysophosphatidylcholine 17:1 in a sample.]
lysophosphatidylcholine 17:0 measurement	EFO_0021452	[Quantification of lysophosphatidylcholine 17:0 in a sample.]
obsolete_autosomal dominant optic atrophy and peripheral neuropathy	Orphanet_250932
cDNA	EFO_0008481	[cDNA or complementary DNA is complementary in sequence to a particular messenger RNA (mRNA). It is synthesized from mRNA in a reverse transcription reaction by reverse transcriptase enzyme. cDNA can be cloned in a vector and introduced into cells to bring about the expression of that particular gene in those cells.]
response to trauma exposure	EFO_0008483	[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 exposure to traumatic events.]
calcium	CHEBI_22984
calcium ionophore	CHEBI_22986
obsolete_cardiocranial syndrome, Pfeiffer type	Orphanet_2872
cryptomicrotia-brachydactyly-excess fingertip arch syndrome	MONDO_0007409	[Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.]
obsolete_Pfeiffer-Palm-Teller syndrome	Orphanet_2871	[Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.]
Crouzon syndrome	MONDO_0007405	[Crouzon disease is characterized by craniosynostosis and facial hypoplasia.]
response to carbamazepine	EFO_0008484	[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 carbamazepine stimulus, an anti-epileptic drug.]
homosexuality	EFO_0008485	[A sexual attraction to members of the same sex.]
inherited Creutzfeldt-Jakob disease	MONDO_0007403	[Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.]
male homosexuality	EFO_0008486
Cri-du-chat syndrome	MONDO_0007404	[Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.]
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	MONDO_0007401	[Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.]
obsolete_phocomelia, Schinzel type	Orphanet_2879
Phocomelia - ectrodactyly - deafness - sinus arrhythmia	Orphanet_2878
Jackson-Weiss syndrome	MONDO_0007400	[Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.]