Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Malignant hyperthermia	Orphanet_423
symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	MONDO_0016097	[Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.]
dilated cardiomyopathy 3B	MONDO_0010542	[Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.]
Duchenne and Becker muscular dystrophy	MONDO_0016899	[Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.]
mbd5 associated neurodevelopmental disorder	EFO_0009072	[Neurodevelopmental disorder associated with the MBD5 gene.]
methylmalonic aciduria (cobalamin deficiency) cblA type	EFO_0009073	[An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.]
nerve conduction velocity	EFO_0010069	[Quantification of the velocity of nerve conduction, often used to measure peripheral nerve function.]
corneal resistance factor	EFO_0010067	[A measure of the biomechanical properties of the cornea. Low corneal resistance factor may be indicative of keratoconus.]
stag1-related disorder	EFO_0009078	[Disorder associated with the STAG1 gene.]
respiratory symptom change measurement	EFO_0010068	[Quantification of the rate of change in respiratory symptoms of an individual over the course of time (either through clinical examination or through a standardised questionnaire), used as an indicator of improvement or decay of respiratory function.]
white-sutton syndrome	EFO_0009079	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of POGZ on chromosome 1q21.3.]
response to intravenous immunoglobulin therapy	EFO_0010065	[The administration of a blood product derived from pooled IgG antibodies extracted from donor plasma delivered intravenously. It is used to treat multiple disorders, including immunodeficiencies, autoimmune disorders, and active infections.]
Pharmacotherapy	EFO_0010064	[Treatment of disease through the use of drugs.]
anti-IgG	EFO_0005030	[Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G.]
late-infantile/juvenile Krabbe disease	MONDO_0016090
corneal hysteresis	EFO_0010066	[A measure of the biomechanical properties of the cornea. Low corneal hysteresis may be indicative of keratoconus.]
adult Krabbe disease	MONDO_0016091	[A Krabbe disease that occurs in an adult.]
Casuarina glauca	NCBITaxon_3522
Congenital disorder of glycosylation with nephropathy as a major feature	Orphanet_371207
Therapeutic Procedure	EFO_0010063	[An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process.]