Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Wilson-Turner syndrome	Orphanet_3459
acute basophilic leukemia	EFO_0003029	[A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.]
obsolete_Wildervanck syndrome	Orphanet_3456
Potocki-Lupski syndrome	MONDO_0012574	[17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.]
somite 14	UBERON_2000726	[Undifferentiated mesodermal component of early trunk segment 14 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.]
somite 2	UBERON_2000728	[Undifferentiated mesodermal component of early trunk segment 2 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.]
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	MONDO_0012570	[Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.]
obsolete_WT limb-blood syndrome	Orphanet_3466
smoking initiation	EFO_0005670	[initation of the habit of smoking, the inhaling and exhaling of tobacco smoke.]
obsolete_Woodhouse-Sakati syndrome	Orphanet_3464	[Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.]
sexual and gender identity disorders	MONDO_0000595	[A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.]
pregnenolone 16alpha-carbonitrile	CHEBI_35591	[A nitrile that has formula C22H31NO2.]
obsolete_Wolfram syndrome	Orphanet_3463	[Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).]
white matter microstructure measurement	EFO_0005674	[quantification of the microstructre of the white matter of the brain]
ILSXISS122/TejJ	EFO_0003011
hypertrophic osteoarthropathy, primary, autosomal recessive, 1	MONDO_0024546	[Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.]
ILSXISS117/TejJ	EFO_0003010
vitamin D-binding protein measurement	EFO_0005675	[the quantification of vitamin D-binding protein in blood as a biomarker for vitamin D-related diseases such as osteoporosis, arthritis, cardiovascular disease and cancer]
Torg-Winchester syndrome	Orphanet_3460
acute coronary syndrome	EFO_0005672	[A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction., Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.]