Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
complement factor H-like 1 protein measurement	EFO_0600092	[Quantification of complement factor H-like 1 protein in a sample.]
complement factor H-related protein 4 measurement	EFO_0600091	[Quantification of the amount of complement factor H-related protein 4 in a sample.]
supratentorial cancer	MONDO_0002071	[Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.]
Congenital cataract microcornea with corneal opacity	Orphanet_289499
gene name	EFO_0002605
Familial hyperprolactinemia	Orphanet_397685
Rare genetic hypothalamic or pituitary disease	Orphanet_183628
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Orphanet_399983
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Orphanet_400011
Broad nasal tip	HP_0000455	[Increase in width of the nasal tip.]
Anteverted nares	HP_0000463	[Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).]
X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Orphanet_371054
Congenital disorder of glycosylation with neurological involvement	Orphanet_371047
obsolete_experiment	EFO_0002607
obsolete_gene	EFO_0002606
syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	MONDO_0014069
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism	Orphanet_289494
AIDS dementia	EFO_0002608	[A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40), A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems., A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.]
HIV-associated neurocognitive disorder	EFO_0007948	[HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overall prevalence of HAND is 30–50% among unselected HIV-infected persons.]
Abnormal gallbladder physiology	HP_0012438	[A functional anomaly of the gallbladder.]