Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_primary pigmented nodular adrenocortical disease	Orphanet_189439
Herpes simplex virus 2 seropositivity	EFO_0009339	[The result of a measurement of circulating Herpes simplex virus 2-specific antibodies]
Ascending aortic dissection	HP_0004933	[A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.]
Aortic dissection	HP_0002647	[Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.]
eyelid sagging measurement	EFO_0009360	[Quantification of the excess eyelid skin that generally occurs in middle-aged or elderly persons, or as a result of genetic disorder such as cutis laxa or Ehlers-Danlos syndrome. Quantification is typically a visual grading by a dermatologist.]
upper face morphology measurement	EFO_0010949	[Quantification of some aspect of upper face morphology such as forehead height.]
Dermatochalasis	HP_0010750	[Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.]
autosomal dominant hypocalcemia	MONDO_0018543	[Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.]
familial hypoparathyroidism	MONDO_0016390	[A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.]
autosomal dominant disease	MONDO_0000426	[Autosomal dominant form of disease.]
calcium metabolic disease	EFO_0005769	[Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels., Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.]
colorectal mucinous adenocarcinoma	EFO_0009361	[An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion.]
colonic neoplasm	EFO_0004288	[A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.]
colorectal adenocarcinoma	EFO_0000365	[The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.]
severe congenital neutropenia	MONDO_0018542
constitutional neutropenia	MONDO_0015134	[A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.]
nicotine withdrawal measurement	EFO_0009362	[Quantification of measure of nicotine withdrwawal.]
chronic central serous retinopathy	EFO_0009363	[The chronic form of central serous retinopathy. Patients with the chronic form have prolonged presence of fluid with progressive loss of vision and reduced quality of life.]
central serous retinopathy	EFO_0009784	[Central serous retinopathy, also known as central serous chorioretinopathy, is an eye disease that causes visual impairment, usually in one eye. When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia).]
adrenoleukodystrophy	MONDO_0018544	[A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.]