Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Hereditary proximal myopathy with early respiratory failure	Orphanet_178464
illuminance unit	UO_0000115	[A unit which is a standard measure of the luminous flux incident on a unit area.]
rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	MONDO_0017408	[A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.]
lux	UO_0000116	[An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared.]
sensory perception of taste	GO_0050909	[The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process.]
familial isolated arrhythmogenic ventricular dysplasia, biventricular form	MONDO_0017402
familial isolated arrhythmogenic ventricular dysplasia, right dominant form	MONDO_0017403
distal Xq28 microduplication syndrome	MONDO_0017404	[Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.]
obsolete_X-linked myopathy with postural muscle atrophy	Orphanet_178461
1p21.3 microdeletion syndrome	MONDO_0017405	[1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.]
Bean pod mottle virus	NCBITaxon_12260
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	MONDO_0017400	[Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.]
familial isolated arrhythmogenic ventricular dysplasia, left dominant form	MONDO_0017401
obsolete_autosomal dominant non-syndromic intellectual disability	Orphanet_178469
sensory perception of sweet taste	GO_0050916	[The series of events required to receive a sweet taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.]
angle unit	UO_0000121	[A unit which is a standard measure of the figure or space formed by the junction of two lines or planes.]
sensory perception of bitter taste	GO_0050913	[The series of events required to receive a bitter taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.]
renal-hepatic-pancreatic dysplasia	MONDO_0017417	[A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.]
luminous intensity unit	UO_0000007	[A luminous intensity unit is a base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction., A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction., A base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction.]
meter	UO_0000008	[A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second., A length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second.]