Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
larynx atresia	MONDO_0007879	[A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.]
acid sphingomyelinase-like phosphodiesterase 3a measurement	EFO_0008013	[quantification of the amount of acid sphingomyelinase-like phosphodiesterase 3a in a sample]
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement	EFO_0008014	[quantification of the amount of ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 in a sample]
Rhipicephalus microplus	NCBITaxon_6941
trichorhinophalangeal syndrome type II	MONDO_0007874	[Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.]
trichorhinophalangeal syndrome	MONDO_0017951
spermatogenic failure 31	MONDO_0020852
Larsen syndrome	MONDO_0007875	[Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.]
intellectual disability, autosomal recessive 65	MONDO_0020850
LADD syndrome	MONDO_0007872	[Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.]
alpha-1-antichymotrypsin measurement	EFO_0008019	[quantification of the amount of alpha-1-antichymotrypsin in a sample]
ventral anterior lateral line ganglion	UBERON_2001313
anterior lateral line ganglion	UBERON_2001391	[The anteror lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system.]
posterior lateral line ganglion	UBERON_2001314	[The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system.]
autism, susceptiblity to	MONDO_0020836
anterior lateral line placode	UBERON_2001316	[Dorsolateral placode that gives rise to the anterior lateral line.]
mosaic trisomy 8	MONDO_0019867	[Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.]
mosaic trisomy 5	MONDO_0019866	[Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.]
mosaic trisomy 22	MONDO_0019869	[Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.]
trisomy 22	MONDO_0022759	[Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).]