Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Orphanet_269573
Spinal muscular atrophy associated with central nervous system anomaly	Orphanet_207012
HG02870	EFO_0010852	[Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia]
anxiety measurement	EFO_0009863	[Quantification of the level of a generalised feeling of anxiety experienced by an individual, typically measured via a questionnaire.]
anxiety	EFO_0005230	[Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.]
cerebral toxoplasmosis	EFO_0007200	[A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures., Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)]
obsolete_X-linked complicated corpus callosum dysgenesis	Orphanet_1497	[X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.]
metabolic network measurement	EFO_0009864	[Quantification of some high level aspect of a metabolic network.]
HG02884	EFO_0010853	[Lymphoblastoid cell line from a Gambian male from the Western Division in the Gambia]
HG02840	EFO_0010850	[Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia]
transcriptome measurement	EFO_0009865	[Quantification of some aspect of the transcriptome.]
Intellectual disability - hypoplastic corpus callosum - preauricular tag	Orphanet_1495
HG02852	EFO_0010851	[Lymphoblastoid cell line from a Gambian female from the Western Division in the Gambia]
pulmonary vascular congestion	EFO_0009866	[Obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema.]
chickenpox	EFO_0007204	[A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications., A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.]
obsolete_Vici syndrome	Orphanet_1493	[Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.]
cervicofacial actinomycosis	EFO_0007203	[A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses., An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene.]
actinomycosis	EFO_0007128	[Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious., A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.]
chromosomal aberration frequency	EFO_0009860	[Frequency of chromosomal aberrations in human peripheral blood.]
genomic measurement	EFO_0004554	[Is a quantification of some aspect of the genome, e.g. copy number variation at some locus.]