Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial isolated arrhythmogenic right ventricular dysplasia	MONDO_0016342	[Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.]
hydranencephaly	MONDO_0016344	[A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.]
encephaloclastic disorder	MONDO_0017103
familial restrictive cardiomyopathy	MONDO_0016340	[An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.]
Persea americana	NCBITaxon_3435
obsolete_hippocampus	EFO_0000530
host	EFO_0000532	[An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment.]
obsolete_Huntington's disease	EFO_0000533	[A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea., A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)]
hydrostatic pressure	EFO_0000534	[The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy.]
obsolete_hyperglycemia	EFO_0000535	[Abnormally high BLOOD GLUCOSE level after a meal.]
obsolete_brain tumor glioblastoma	EFO_0000515	[A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO), A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.]
oligomycin A	CHEBI_28285
obsolete_glial cell (sensu Vertebrata)	EFO_0000518	[A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.]
dysplastic cortical hyperostosis	MONDO_0016357
tumor grade 4, general grading system	MONDO_0024494	[A morphologic qualifier indicating that a cancerous lesion is undifferentiated.]
palmoplantar keratoderma-spastic paralysis syndrome	MONDO_0016353
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	MONDO_0007853
xeroderma pigmentosum-Cockayne syndrome complex	MONDO_0016354	[Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).]
xeroderma pigmentosum	MONDO_0019600	[Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).]
semilobar holoprosencephaly	MONDO_0016355	[Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.]