Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cellular macromolecule metabolic process	GO_0044260	[ The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. ]
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures	EFO_0010661	[An autosomal dominant disorder characterized by developmental delay, intellectual disability, seizures, autism spectrum disorder, behavioral abnormalities, and variable non-specific brain malformations.]
peanut allergy measurement	EFO_0007017	[quantification of the presence or severity of an allergy to peanuts]
food allergy measurement	EFO_0007016	[quantification of the presence or severity of an allergy to some food]
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	EFO_0010662	[An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum.]
upper respiratory tract disorder	MONDO_0004867	[A disease involving the upper respiratory tract.]
3-hydroxy-1-methylpropylmercapturic acid measurement	EFO_0007015	[quantification in a urine sample of 3-hydroxy-1-methylpropylmercapturic acid, one of the main metabolites of crotonaldehyde, an important constituent of cigarette smoke with well documented toxic effects]
lens disease	EFO_0009674	[A disease involving the lens of camera-type eye., A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]]
benign neoplasm of skin	MONDO_0021440	[A benign neoplasm that involves the zone of skin.]
melanocytic skin neoplasm	MONDO_0021583	[A melanocytic neoplasm that involves the zone of skin.]
neurodevelopmental disorder with macrocephaly and with or without seizures	EFO_0010660	[An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit hyperactivity disorder.]
3-hydroxypropylmercapturic acid measurement	EFO_0007014	[quantification in a urine sample of 3-hydroxypropylmercapturic acid, one of the main metabolites of acrolein, an important constituent of cigarette smoke with well documented toxic effects]
obsolete_Charlie M syndrome	Orphanet_1406	[Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia - hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present a hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions of Charlie M syndrome in the literature since 1976.]
milk allergy measurement	EFO_0007019	[quantification of the presence or severity of an allergy to milk or other dairy products]
egg allergy measurement	EFO_0007018	[quantification of the presence or severity of an allergy to eggs]
Testicular atrophy	HP_0000029	[Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.]
cellular metabolic process	GO_0044237	[ The chemical reactions and pathways by which individual cells transform chemical substances. ]
5-methyluridine (ribothymidine) measurement	EFO_0020013	[Quantification of 5-methyluridine levels in a sample.]
1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement	EFO_0020014	[Quantification of 1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2) levels in a sample.]
X-11593 measurement	EFO_0020015	[Quantification of X-11593 levels in a sample.]