Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
LDH-related sciatica symptom severity measurement	EFO_0007941	[Quantification of the severity of sciatica symptoms in patients with lumbar disc herniation. In the case of persistent progressive severe sciatica symptoms, patients may require surgical intervention via microdiscectomy, a minimally invasive spinal surgery for removal of herniated lumbar disc tissue.]
free cholesterol change measurement	EFO_0020905	[Quantification of the change in free cholesterol levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
free cholesterol measurement	EFO_0008591	[Quantification of the amount of free cholesterol in a sample.]
obsolete_Say-Barber-Miller syndrome	Orphanet_3132
chronic venous insufficiency	EFO_0007940	[morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care]
intermediate density lipoprotein change measurement	EFO_0020906	[Quantification of the change in intermediate density lipoprotein levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
intermediate density lipoprotein measurement	EFO_0008595	[Quantification of the amount of intermediate density lipoprotein in a sample.]
very low density lipoprotein particle size change measurement	EFO_0020907	[Quantification of the change in very low density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
very low density lipoprotein particle size measurement	EFO_0008594	[Quantification of the size of VLDL particles, typically their diameter.]
low density lipoprotein particle size change measurement	EFO_0020908	[Quantification of the change in low density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
low density lipoprotein particle size measurement	EFO_0008593	[Quantification of the size of LDL particles, typically their diameter.]
obsolete_X-linked intellectual disability, Cilliers type	Orphanet_163971
agoraphobia symptom measurement	EFO_0007945	[quantification of some aspect of agoraphobia symptoms such as their frequency or severity, usually via a structured questionnaire such as the Agoraphobia Cognition Questionnaire (ACQ)]
agoraphobia	EFO_1001872	[A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable., An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.]
chylomicron change measurement	EFO_0020901	[Quantification of the change in chylomicron levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
chylomicron measurement	EFO_0008596	[Quantification of the amount of chylomicrons in a sample. Chylomicrons are lipoprotein particles that consist of triglycerides (85–92%), phospholipids (6–12%), cholesterol (1–3%), and proteins (1–2%).]
microphthalmia-brain atrophy syndrome	MONDO_0012638	[Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.]
allergen exposure measurement	EFO_0007944	[Quantification of an individual's level of exposure to an allergen such as a food allergen or dust mites. The level of exposure is defined as units of allergen in a sample, eg microgram of dust mites in a gram of dust.]
bombay phenotype	EFO_0020902	[Two main types of recessive c phenotypes are recognized: (1) the nonsecretor classic Bombay type (h null and se (FUT2; 182100) null) with H deficiency of both red cells and saliva, and (2) the secretor Bombay type (h null, Se heterozygous) with H deficiency in red cells but normal ABH in secretions. The latter has been designated para-Bombay phenotype. Under this 2-locus model, the H blood group locus determines expression of the H antigen (as well as the A and/or B antigens) in the erythroid lineage, whereas the SE locus controls H expression (and thus A or B antigen expression) in a variety of secretory epithelia and in saliva. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, wherein they are cross-match incompatible with all donors except other H-deficient individuals.]
Autosomal recessive spastic paraplegia type 62	Orphanet_401785