Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_osteoglophonic dwarfism	Orphanet_2645
early gestational weight gain	EFO_0008437	[Quantification of the amount of weight gained by a woman during early pregnancy.]
growth hormone measurement	EFO_0008438	[Quantification of the amount of growth hormone in a sample, typically blood.]
obsolete_microcephalic primordial dwarfism, Toriello type	Orphanet_2643
single cell nucleic acid sequencing protocol	EFO_0008439	[A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample from a single cell specimen]
obsolete_STT3B-CDG	Orphanet_370924
sapropterin dihydrochloride	CHEBI_32120
obsolete_pontocerebellar hypoplasia type 9	Orphanet_369920
obsolete_hyperkeratosis lenticularis perstans	Orphanet_409
obsolete_isolated glycerol kinase deficiency	Orphanet_408
obsolete_glycine encephalopathy	Orphanet_407
Immunodeficiency by defective expression of HLA class 1	Orphanet_34592
obsolete_familial hypocalciuric hypercalcemia	Orphanet_405
obsolete_aldosterone-producing adenoma with seizures and neurological abnormalities	Orphanet_369929
Helicobacter pylori 26695	NCBITaxon_85962
obsolete_familial hyperaldosteronism type II	Orphanet_404
IgG monogalactosylation measurement	EFO_0008423	[Quantification of monogalactosylated N-glycans of IgG in a biological sample, typically serum]
Dwarfism - intellectual disability - eye abnormality	Orphanet_2650
obsolete_Familial hyperaldosteronism type I	Orphanet_403	[Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.]
IgG digalactosylation measurement	EFO_0008424	[Quantification of digalactosylated N-glycans of IgG in a biological sample, typically serum]