Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_partial duplication of the long arm of chromosome 14	Orphanet_262941
cerebellum cortex volume change measurement	EFO_0021497	[Quantification of the change in cerebellum cortex volume over time.]
obsolete_Pellagra-like skin rash - neurological manifestations	Orphanet_2837
fried syndrome	MONDO_0019428	[Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.]
thalamus volume change measurement	EFO_0021496	[Quantification of the change in thalamus volume over time.]
thalamus volume	EFO_0006935	[quantification of the volume of the thalamus, a midline symmetrical structure of two halves, within the vertebrate brain, situated between the cerebral cortex and the midbrain]
X-linked intellectual disability, Stoll type	MONDO_0019423	[X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.]
caudate volume change measurement	EFO_0021491	[Quantification of the change in caudate volume over time.]
caudate nucleus volume	EFO_0004830	[The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders]
X-linked intellectual disability, Stevenson type	MONDO_0019422	[An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.]
amygdala volume change measurement	EFO_0021490	[Quantification of the change in amygdala volume over time.]
amygdala volume	EFO_0006934	[quantification of the volume of the amygdala, an almond-shaped group of nuclei located deep and medially within each temporal lobe of the brain]
obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	MONDO_0019425
nucleus accumbens volume change measurement	EFO_0021493	[Quantification of the change in nucleus accumbens volume over time.]
nucleus accumbens volume	EFO_0006931	[quantification of the volume of the nucleus accumbens, a region of the basal forebrain rostral to the preoptic area of the hypothalamus and which together with the olfactory tubercle forms the ventral striatum]
X-linked intellectual disability-acromegaly-hyperactivity syndrome	MONDO_0019424	[X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.]
obsolete_AICA-ribosiduria	Orphanet_250977	[AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.]
hippocampus volume change measurement	EFO_0021492	[Quantification of the change in hippocampus volume over time.]
oxalate(1-)	CHEBI_46904	[A dicarboxylic acid monoanion that is the conjugate base of oxalic acid.]
X-linked intellectual disability, Seemanova type	MONDO_0019421	[X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.]