Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hereditary spastic paraplegia 18	MONDO_0012639	[A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.]
response to platinum-based neoadjuvant chemotherapy	EFO_0007943	[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 platinum based neoadjuvant chemotherapy stimulus. Neoadjuvant chemotherapy is given as a first step to shrink a tumor before the main treatment, which is usually surgery, is given.]
phospholipid change measurement	EFO_0020903	[Quantification of the change in phospholipid levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
hip osteoarthritis symptom severity measurement	EFO_0007942	[Quantification of the hip osteoarthritis symptoms. In the case severe hip osteoarthritis, patients may require surgical intervention via a total hip replacement.]
esterified cholesterol change measurement	EFO_0020904	[Quantification of the change in esterified cholesterol levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
esterified cholesterol measurement	EFO_0008589	[Quantification of the amount of esterified cholesterol in a sample.]
COG1-CDG	MONDO_0012637	[COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.]
acute-on-chronic liver failure	EFO_0007949	[Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality.]
Autosomal recessive spastic paraplegia type 61	Orphanet_401780
Cognitive impairment	HP_0100543	[Abnormal cognition with deficits in thinking, reasoning, or remembering.]
serum galactose-deficient IgA1 measurement	EFO_0007947	[Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals.]
serum IgA measurement	EFO_0004912	[Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma.]
obsolete_ulnar-mammary syndrome	Orphanet_3138
tiredness measurement	EFO_0007946	[Quantification an individual's level of tiredness, generally via a standardised questionnaire or structured interview.]
obsolete_alpha-N-acetylgalactosaminidase deficiency	Orphanet_3137
familial reactive perforating collagenosis	MONDO_0009000	[Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.]
autosomal recessive limb-girdle muscular dystrophy type 2L	MONDO_0012652	[A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.]
obsolete_X-linked dominant chondrodysplasia, Chassaing-Lacombe type	Orphanet_163966	[X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.]
triglyceride:HDL cholesterol ratio	EFO_0007929	[quantification of the ratio of triglyceride to HDL cholesterol in a sample]
Cernunnos-XLF deficiency	MONDO_0012650	[Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.]