Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
14q22q23 microdeletion syndrome	Orphanet_264200
central nervous system calcification-deafness-tubular acidosis-anemia syndrome	MONDO_0017924	[This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.]
T-cell immunodeficiency with epidermodysplasia verruciformis	MONDO_0017925	[T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.]
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	MONDO_0017920	[Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).]
hearing loss-familial salivary gland insensitivity to aldosterone syndrome	MONDO_0017921	[Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.]
Omsk hemorrhagic fever virus	NCBITaxon_12542
Xanthomonas oryzae pv. oryzicola	NCBITaxon_129394	[Xanthomonas oryzae pv. oryzae is a bacterium which causes a serious blight of rice, other grasses and sedges.]
Deafness - encephaloneuropathy - obesity - valvulopathy	Orphanet_254898
pseudouridine	CHEBI_17802	[A C-glycosyl pyrimidine that consists of uracil having a beta-D-ribofuranosyl residue attached at position 5. The C-glycosyl isomer of the nucleoside uridine.]
negative regulation of renal sodium excretion	GO_0035814	[Any process that decreases the amount of sodium excreted in urine over a unit of time.]
regulation of renal sodium excretion	GO_0035813	[Any process that modulates the amount of sodium excreted in urine over a unit of time.]
positive regulation of renal sodium excretion	GO_0035815	[Any process that increases the amount of sodium excreted in urine over a unit of time.]
renal sodium excretion	GO_0035812	[The elimination by an organism of sodium in the urine.]
renal system process	GO_0003014	[A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila).]
obsolete_autosomal dominant progressive external ophthalmoplegia	Orphanet_254892
maternally-inherited spastic paraplegia	MONDO_0017917	[A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.]
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	MONDO_0017918	[White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.]
aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	MONDO_0017934	[Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.]
Toe clinodactyly	HP_0001863	[Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).]
hyperinsulinism due to HNF1A deficiency	MONDO_0017935	[Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.]