Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Prata-Liberal-Goncalves syndrome	MONDO_0017568	[Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.]
congenital patella dislocation, bilateral	MONDO_0017563
congenital patella dislocation	MONDO_0017471
macrodactyly of fingers, unilateral	MONDO_0017564
macrodactyly of fingers	MONDO_0017474
macrodactyly of fingers, bilateral	MONDO_0017565
macrodactyly of toes, unilateral	MONDO_0017566
congenital genu recurvatum	MONDO_0017560	[An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.]
congenital knee dislocation	MONDO_0017470
congenital genu flexum	MONDO_0017561
congenital patella dislocation, unilateral	MONDO_0017562
biosequence provider	EFO_0001730
consultant	EFO_0001732	[A person who provides expert advice professionally.]
consortium member	EFO_0001731
data analyst	EFO_0001734
genetic modification design	EFO_0001758	[A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out.]
dose response design	EFO_0001757	[A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s).]
growth condition design	EFO_0001759	[A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients.]
Baraitser-Winter cerebrofrontofacial syndrome	MONDO_0017579	[Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.]
mitochondrial neurogastrointestinal encephalomyopathy	MONDO_0017575	[A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.]