Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ILSXISS98/TejJ	EFO_0003001
urinary albumin excretion rate	EFO_0005667	[quantification of the amount of albumin excreted in urine, measured as an indicator for kidney malfunctions such as diabetic nephropathy]
ILSXISS103/TejJ	EFO_0003004
ILSXISS100/TejJ	EFO_0003003
white matter hyperintensity measurement	EFO_0005665	[quantification of white matter hyperintensity, usually measured by MRI]
ILSXISS110/TejJ	EFO_0003006
1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine	CHEBI_84573	[A phosphatidylcholine 38:4 in which the acyl groups at positions 1 and 2 are hexadecanoyl and (7Z,10Z,13Z,16Z)-docosatetraenoyl respectively.]
thyroid peroxidase antibody measurement	EFO_0005666	[quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease]
ILSXISS107/TejJ	EFO_0003005
nemaline myopathy 7	MONDO_0012538	[Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.]
ILSXISS114/TejJ	EFO_0003008
ILSXISS112/TejJ	EFO_0003007
ILSXISS115/TejJ	EFO_0003009
Primary hemophagocytic lymphohistiocytosis	Orphanet_158038
multiple endocrine neoplasia type 4	MONDO_0012552	[Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.]
cardiomyopathy-hypotonia-lactic acidosis syndrome	MONDO_0012557	[Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.]
DK1-CDG	MONDO_0012556	[DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.]
familial acne inversa	MONDO_0024516	[An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.]
renal hypodysplasia/aplasia 1	MONDO_0024519
recombinase activating gene 2 deficiency	MONDO_0000573	[A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.]