Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_combined immunodeficiency due to ZAP70 deficiency	Orphanet_911
obsolete_xeroderma pigmentosum	Orphanet_910
Hypervolemia	HP_0011105	[An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.]
dibenzothiazepine	CHEBI_39268
sex hormone-binding globulin	EFO_0003941	[A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications., http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin]
tibia fracture	EFO_0003944	[Traumatic or pathological injury to the tibia in which the continuity of the bone is broken.]
obsolete_menorrhagia	EFO_0003945	[Excessive uterine bleeding during MENSTRUATION.]
Xenograft	EFO_0003942	[Transplantation between animals of different species.]
humerus fracture	EFO_0003943	[A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken.]
neuropsychological test	EFO_0003926	[Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.]
obsolete_myopia	EFO_0003927	[A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.]
Anonychia	HP_0001798	[Aplasia of the nail.]
necrotizing enterocolitis	EFO_0003928	[ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT., Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.]
relapsing-remitting multiple sclerosis	EFO_0003929	[The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914), The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)]
metergoline	CHEBI_64216
2,3-dimethoxynaphthalene-1,4-dione	CHEBI_64215
Achalasia - microcephaly	Orphanet_929
Hyperammonemia due to N-acetylglutamate synthetase deficiency	Orphanet_927
obsolete_Acatalasemia	Orphanet_926
obsolete_Abruzzo-Erickson syndrome	Orphanet_921