Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
International Unit	EFO_0002927
unit	UO_0000000	[A unit of measurement is a standardized quantity of a physical quality.]
1-oleoyl-sn-glycero-3-phosphoethanolamine	CHEBI_75168	[A 1-acyl-sn-glycero-3-phosphoethanolamine in which the 1-acyl group is specified as oleoyl.]
Lowe-Kohn-Cohen syndrome	MONDO_0016568	[Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.]
microgram per kilogram per day	EFO_0002929
progressive supranuclear palsy-pure akinesia with gait freezing syndrome	MONDO_0016562	[PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.]
atypical progressive supranuclear palsy syndrome	MONDO_0020488	[Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).]
progressive supranuclear palsy-corticobasal syndrome	MONDO_0016563	[PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.]
progressive supranuclear palsy-progressive non-fluent aphasia syndrome	MONDO_0016564	[PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.]
inherited obesity	MONDO_0019182
overgrowth/obesity syndrome	MONDO_0015330
obsolete_familial benign flecked retina	Orphanet_363989
ptosis-syndactyly-learning difficulties syndrome	MONDO_0016560
1q44 microdeletion syndrome	MONDO_0016561	[1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.]
night blindness	MONDO_0004588	[Inability to see clearly in dim light.]
obsolete_Charcot-Marie-Tooth disease type 4B3	Orphanet_363981
hereditary night blindness	MONDO_0004587	[An instance of night blindness that is caused by an inherited modification of the individual's genome.]
rheumatoid lung disease	MONDO_0004586	[Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.]
unit per kilogram	EFO_0002931
milligram per kilogram per day	EFO_0002930