Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Chronic mucocutaneous candidosis	Orphanet_1334	[.]
Genetic immune deficiency with skin involvement	Orphanet_183494
leucine measurement	EFO_0009770	[Quantification of the amount of the amino acid leucine in a sample.]
leucine	CHEBI_25017	[A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isobutyl group.]
response to stimulus	GO_0050896	[ Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. ]
anti-Kaposi's sarcoma-associated herpesvirus antibody measurement	EFO_0010758	[Quantification of one or more antibodies to the Kaposi's sarcoma-associated herpesvirus, typically in serum]
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation	Orphanet_261572	[Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES (see this term), characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.]
Blepharophimosis - epicanthus inversus - ptosis	Orphanet_126	[Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II).]
Arabidopsis	NCBITaxon_3701
HL-60/S4	EFO_0010756	[HL-60/S4 is a subline of the HL-60 cell line. The HL-60/S4 cell line was established in 1992 and is supersensitive to retinoic acid.]
HL-60	EFO_0002793	[Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976., HL-60 is a cell line which is the bearer of human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976.]
Acute Leukemia	EFO_1000068	[A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).]
obsolete_heart-hand syndrome type 3	Orphanet_1342
caspase-8 measurement	EFO_0010764	[Quantification of the amount of caspase 8 protein in a sample]
threonine measurement	EFO_0009775	[Quantification of the amount of the amino acid threonine in a sample.]
threonine	CHEBI_26986	[An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 1-hydroxyethyl group.]
Loucy	EFO_0007112	[Loucy was established in 1987 from the peripheral blood of a 38-year-old female patient with T-cell acute lymphoblastic leukemia (T-ALL) obtained two months prior to her death. May be of value in evaluating the role of t(16;20) in the etiology of T-ALL.]
lymphoma or leukaemia cell line	EFO_0002937
iPS-5	EFO_0007111	[This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, MYC, hTERT, and SV40 large T (hTERT and SV40 large T did not integrate).]
ornithine measurement	EFO_0009776	[Quantification of the amount of the amino acid ornithine in a sample.]