Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
postpartum	EFO_0008562	[The period of time immediately after labor and delivery.]
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells	Orphanet_83620
Illumina HiSeq 4000	EFO_0008563	[The Illumina HiSeq 4000 is a high-throughput sequencing machine developed by Illumina.]
Gossypium longicalyx	NCBITaxon_34280
Illumina HiSeq 3000	EFO_0008564	[The Illumina HiSeq 3000 is a high-throughput sequencing machine developed by Illumina.]
Familial hemophagocytic lymphohistiocytosis	Orphanet_540	[Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.]
blood rubidium measurement	EFO_0021529	[Quantification of rubidium in a blood sample.]
blood barium measurement	EFO_0021528	[Quantification of barium in a blood sample.]
renal overload-type gout	EFO_0021525	[A subtype of gout based on clinical parameters, eg. fractional excretion of uric acid above 5.5%.]
gout	EFO_0004274	[A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals., metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout is partly genetic.]
Thiamine deficiency	EFO_0008569	[Thiamine deficiency is a condition that occurs due to not enough thiamine (vitamin B1).]
Pachygyria - intellectual disability - epilepsy	Orphanet_2798
non-alcoholic pancreatitis	EFO_0021524	[Acute or chronic inflammation of the pancreas not due to excessive alcohol drinking.]
GM17272	CLO_0013214	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
epigallocatechin gallate	CHEBI_4806
blood arsenic measurement	EFO_0021527	[Quantification of arsenic in a blood sample.]
GM17271	CLO_0013213	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Pachydermoperiostosis	Orphanet_2796	[ with prominent pachydermia and minimal-to-absent skeletal changes.]
4C-seq	EFO_0021526	[Circular chromosome conformation capture combined with high-throughput sequencing.]
GM17270	CLO_0013212	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]