Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
social interaction measurement	EFO_0009592	[Quantification, typically by a questionnaire, of some aspect of social interaction, such as engagement in social activities, or degree of contact with friends and family.]
auditory neuropathy	MONDO_0021944	[A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.]
inherited auditory system disease	MONDO_0037940	[An instance of auditory system disease that is caused by an inherited modification of the individual's genome.]
hearing loss	EFO_0004238	[A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central., A general term for the complete or partial loss of the ability to hear from one or both ears.]
infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	MONDO_0018314	[A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.]
infantile epilepsy syndrome	MONDO_0020071	[A epilepsy syndrome that occurs between 28 days to one year of life..]
mood change measurement	EFO_0009593	[Quantification of whether an individual experiences changes in mood.]
hearing disorder	MONDO_0021945	[A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.]
perceptual disorders	MONDO_0024417	[Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.]
Pierre Robin syndrome associated with miscellaneous anomalies	Orphanet_138066
irritability measurement	EFO_0009594	[Quantification of whether an individual feels or felt irritable.]
proteome	EFO_0010579	[The actual total expressed protein complement of an organism or the identifiable proteins of a single tissue or cell type or subcellular compartment.]
material entity	BFO_0000040	[A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray.]
visual memory measurement	EFO_0009590	[Quantification of an individual's ability to store and recall visual information.]
feeling emotionally hurt measurement	EFO_0009599	[Quantification of whether an individual feels or felt emotionally hurt.]
matrix metalloproteinase 1 measurement	EFO_0010588	[quantification of the amount of matrix metalloproteinase 1 in a sample]
matrix metalloproteinase 10 measurement	EFO_0010589	[quantification of the amount of matrix metalloproteinase 10 in a sample]
CD40 measurement	EFO_0010586	[quantification of the amount of CD40 in a sample]
Genetic pancreatic disease	Orphanet_165661
Rare genetic gastroenterological disease	Orphanet_165652