Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Focal impaired awareness seizure	HP_0002384	[Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.]
Focal-onset seizure	HP_0007359	[A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.]
Aphasia	HP_0002381	[An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.]
Ehlers-Danlos syndrome, kyphoscoliotic type	Orphanet_1900	[Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility.]
Connective tissue disease with eye involvement	Orphanet_98702
Ehlers-Danlos syndrome	MONDO_0020066	[The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.]
obsolete_Ehlers-Danlos syndrome, dermatosparaxis type	Orphanet_1901
outer membrane	GO_0019867	[ The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites. ]
membrane	GO_0016020	[ Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. ]
heart aneurysm	EFO_1000959	[A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture., A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.]
heart disease	EFO_0003777	[Pathological conditions involving the HEART including its structural and functional abnormalities., A disease involving the heart and/or pericardium.]
age of onset of schizophrenia	OBA_2001011	[The age at which schizophrenia manifestations first appear.]
age of onset of cognitive disorder	OBA_2040165	[The age at which cognitive disorder manifestations first appear.]
age of onset of type 1 diabetes mellitus	OBA_2001012	[The age at which type 1 diabetes mellitus manifestations first appear.]
Onset	HP_0003674	[The age group in which disease manifestations appear.]
hairy tongue	EFO_1000957	[A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black., A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)]
tongue disorder	MONDO_0001165	[A disease involving the tongue.]
age of onset of type 2 diabetes mellitus	OBA_2001013	[The age at which type 2 diabetes mellitus manifestations first appear.]
halo nevus	EFO_1000958	[A benign melanocytic nevus with a halo appearance.]
Haemophilus influenzae meningitis	EFO_1000955	[Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults., Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.]