Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cerebral dopamine neurotrophic factor measurement	EFO_0020254	[The determination of the amount of cerebral dopamine neurotrophic factor in a sample]
CARASIL	Orphanet_199354	[CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.]
Malar flattening	HP_0000272	[Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.]
Abnormal zygomatic bone morphology	HP_0010668	[An abnormality of the zygomatic bone.]
CD97 antigen measurement	EFO_0020250	[The determination of the amount of CD97 antigen in a sample]
obsolete_3-hydroxy-3-methylglutaric aciduria	Orphanet_20	[3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.]
geotrichosis	EFO_0007284	[An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people., Infection due to the fungus Geotrichum.]
geographic tongue	EFO_0007283	[A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment., An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.]
atrophic glossitis	MONDO_0001989
obsolete_4-hydroxybutyric aciduria	Orphanet_22
genital herpes	EFO_0007282	[A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands., Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.]
obsolete_argininosuccinic aciduria	Orphanet_23
geniculate herpes zoster	EFO_0007281	[A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache., A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.]
obsolete_glycogen storage disease I	EFO_0007288	[A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.]
Dynein arm defect of respiratory motile cilia	HP_0012255	[An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.]
glucosephosphate dehydrogenase deficiency	EFO_0007287	[An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs., A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).]
glanders	EFO_0007286	[A condition resulting from infection by Burkholderia mallei, which mainly affects horses., A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs.]
burkholderia infectious disease	MONDO_0043953	[Infections with bacteria of the genus Burkholderia.]
regulation of system process	GO_0044057	[Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system.]
Gerstmann syndrome	EFO_0007285	[Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe., A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.]