Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
nap during day, self-reported	EFO_0009818	[Having a nap during the day, as reported by an individual.]
Ovarian Steroid Cell Tumor	EFO_1000433	[An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course.]
obsolete_macrodactyly of fingers	Orphanet_295044
comparative body size at age 10, self-reported	EFO_0009819	[Description of an individual's body size at age 10 compared to average, as reported by the individual.]
Ovarian Sex Cord Tumor with Annular Tubules	EFO_1000430	[An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course.]
secondary malignant neoplasm	EFO_0009812	[A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.]
secondary neoplasm	MONDO_0024882	[A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.]
Ovarian Small Cell Carcinoma	EFO_1000431	[A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.]
ovarian neuroendocrine neoplasm	MONDO_0002481	[An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.]
obsolete_upper limb hypertrophy	Orphanet_295049
number of children fathered measurement	EFO_0009814	[A measurement of the number of children fathered by a male individual.]
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Orphanet_319539	[ genes which lead to a residual response of IFN-gamma.]
CASCOT confidence score measurement	EFO_0009815	[CASCOT stands for Computer Assisted Structure COding Tool. This is used to translate free-text job descriptions into Standard Occupational Classification (SOC) 2000 codes. The CASCOT programme generates a confidence score (1-100%) for each job description, which represents the Bayesian probability that the computer-assigned SOC code is that which would be assigned manually by experts in job coding.]
UV light regimen	EO_0007222	[The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm.]
light regimen	EO_0007196	[The treatment involving day light as the light of the sun or the artificial light in a growth chamber.]
myofibrillar myopathy 9 with early respiratory failure	EFO_0010828	[Myofibrillar myopathy-9 with early respiratory failure (MFM9) is an autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency. Patients present between 20 and 70 years of age with distal or proximal muscle weakness, mainly affecting the lower limbs with foot drop or difficulty walking. The age at onset is highly variable, even within families. Nearly all patients eventually develop significant proximal and distal weakness, as well as respiratory insufficiency requiring nocturnal ventilation. Additional, more variable features may include axial weakness, neck muscle weakness, and rarely, cardiac involvement. Muscle biopsy shows myopathic or dystrophic changes with fiber splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue (summary by Pfeffer et al., 2014).]
obsolete_disorder of folate metabolism and transport	Orphanet_285657
response to fluoropyrimidines	EFO_0010825	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluoropyrimidine stimulus. 5-fluorouracil and Capecitabine are pyrimidine analogues used in treatment of cancer.]
response to antimetabolite	GO_0097329	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimetabolite stimulus. An antimetabolite is a substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization.]
cystine urolithiasis	EFO_0010826	[Urolithiasis in which the composition of the stones is predominantly cystine.]