Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CK syndrome	MONDO_0010441
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	MONDO_0010444
congenital dyserythropoietic anemia	MONDO_0019403	[Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.]
X-linked cone dysfunction syndrome with myopia	MONDO_0010446	[X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.]
obsolete_qualitative or quantitative defects of gamma-sarcoglycan	Orphanet_207067
right cardiac atrium	UBERON_0002078	[A cardiac atrium that is in the left side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve.]
left cardiac atrium	UBERON_0002079	[A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve.]
obsolete_qualitative or quantitative defects of beta-sarcoglycan	Orphanet_207063
Sphingomonas sp. NM05	NCBITaxon_352164
obsessive-compulsive symptom measurement	EFO_0007802	[quantification of some aspect of obsessive-compulsive symptoms, such as their existence and severity, usually via a standardised questionnaire or interview with a qualified mental health professional]
obsessive-compulsive disorder	EFO_0004242	[A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety., An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.]
severe X-linked mitochondrial encephalomyopathy	MONDO_0010437	[Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.]
channelopathy-associated congenital insensitivity to pain, autosomal recessive	MONDO_0009459	[A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)]
lycopene measurement	EFO_0007801	[quantification in a sample (eg blood) of lycopene, a bright red carotene and carotenoid pigment and phytochemical found in tomatoes and other red fruits and vegetables, such as red carrots, watermelons and papayas]
chromosome Xq28 duplication syndrome	MONDO_0010436
syndromic X-linked intellectual disability Lubs type	MONDO_0010283	[Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.]
Schimke immuno-osseous dysplasia	MONDO_0009458	[A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.]
body fat percentage	EFO_0007800	[Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. ]
body composition measurement	EFO_0005106	[measurement of the percentages of fat, bone and muscle in human bodies]
total cholesterol change measurement	EFO_0007806	[quantification of the change in total cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug]