Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_X-linked spinocerebellar ataxia type 3	Orphanet_85297
Septo-optic dysplasia	Orphanet_3157	[Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.]
obsolete_Senior-Loken syndrome	Orphanet_3156	[Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.]
word reading	EFO_0005300	[word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words]
abnormal paneth cell measurement	EFO_0007963	[quantification of some aspect of Paneth cell abnormality, such as abnormal morphology or abnormal number of cells. Paneth cells, along with goblet cells, enterocytes, and enteroendocrine cells, represent the principal cell types of the epithelium of the small intestine.]
paneth cell	CL_0000510	[An epithelial cell found in the basal part of the intestinal glands (crypts of Lieberkuhn) including the appendix. Paneth cells synthesize and secrete lysozyme and cryptdins. Numerous in the deeper parts of the intestinal crypts, particularly in the duodenum, rich in zinc, contain large acidophilic granules, with irregular apical microvilli and prominent membrane-bound vacuoles containing matrix.]
skin reaction	EFO_0020927
polybrominated diphenyl ether measurement	EFO_0007962	[quantification in a sample of some polybrominated diphenyl ethers, a group of man-made environmental pollutants which accumulate in humans with adverse health effects]
reading and spelling ability	EFO_0005301	[reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words]
occular toxicity	EFO_0020928	[Toxicity that causes injury to eye.]
polybrominated biphenyl measurement	EFO_0007961	[quantification in a sample of some polybrominated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects]
electrocardiogram PR prolongation	EFO_0020929	[Increased time for the interval between the beginning of the P wave to the beginning of the QRS complex as measured by electrocardiogram (EKG)]
PR interval	EFO_0004462	[A PR interval is an electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle]
obsolete_proximal myopathy with extrapyramidal signs	Orphanet_401768
obsolete_sclerosteosis	Orphanet_3152
Multiple sclerosis - ichthyosis - factor VIII deficiency	Orphanet_3151
atrial conduction disease	EFO_0005304	[Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted., atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted]
blood osmolality measurement	EFO_0007967	[quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations]
accidental overdose	EFO_0020923	[Overdose following the injestion of a medicine by mistake, or if the wrong medicine is taken, or if too much of the medicine is taken by mistake.]
overdose	EFO_0020911	[An excessive and dangerous dose of a drug.]