Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Preaxial polydactyly - colobomata - intellectual disability	Orphanet_2921
obsolete_Oliver syndrome	Orphanet_2920	[Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.]
Overgrowth	HP_0001548	[Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.]
Gluconic acid measurement	EFO_0021598	[Quantification of the amount of Gluconic acid in a sample.]
Asymmetry of the thorax	HP_0001555	[Lack of symmetry between the left and right halves of the thorax.]
Eudesmic acid (3,4,5-trimethoxybenzoic acid) measurement	EFO_0021597	[Quantification of the amount of Eudesmic acid (3,4,5-trimethoxybenzoic acid) in a sample.]
Glycochenodeoxycholic acid measurement	EFO_0021599	[Quantification of the amount of Glycochenodeoxycholic acid in a sample.]
DL-P-hydroxyphenyllactic acid measurement	EFO_0021594	[Quantification of the amount of DL-P-hydroxyphenyllactic acid in a sample.]
Deoxycholic acid measurement	EFO_0021593	[Quantification of the amount of Deoxycholic acid in a sample.]
Pierre Robin syndrome-faciodigital anomaly syndrome	MONDO_0010710	[This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.]
Dulcitol measurement	EFO_0021596	[Quantification of the amount of Dulcitol in a sample.]
Dodecanedioic aicd measurement	EFO_0021595	[Quantification of the amount of Dodecanedioic aicd in a sample.]
D-Sorbitol measurement	EFO_0021590	[Quantification of the amount of D-Sorbitol in a sample.]
obsolete_renal cysts and diabetes syndrome	Orphanet_93111
D-Trehalose measurement	EFO_0021592	[Quantification of the amount of D-Trehalose in a sample.]
obsolete_posterior urethral valve	Orphanet_93110
D-Sucrose measurement	EFO_0021591	[Quantification of the amount of D-Sucrose in a sample.]
early-onset parkinsonism-intellectual disability syndrome	MONDO_0010709	[Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.]
Pallister-W syndrome	MONDO_0010708	[W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.]
nephropathy - deafness - hyperparathyroidism syndrome	MONDO_0009729	[Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.]