Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-12189 measurement	EFO_0021291	[Quantification of the amount of X-12189 in a sample.]
neuroectodermal-endocrine syndrome	MONDO_0017045	[Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.]
X-12188 measurement	EFO_0021290	[Quantification of the amount of X-12188 in a sample.]
exposure-related interstitial lung disease	MONDO_0017040
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	MONDO_0017041	[Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.]
Recessive hereditary methemoglobinemia type 2	Orphanet_139380	[Autosomal recessive type 2 hereditary methemoglobinemia, also referred to as recessive congenital methemoglobinemia type 2 (RHM type 2/RCM type 2), is a rare red cell disorder characterized by severe encephalopathy with generalized dystonia and mild cyanosis.]
supratentorial ependymal tumor	MONDO_0020687	[An ependymal tumor arising from the supratentorial region of the brain.]
3-hydroxy-3-methylglutarate(2-)	CHEBI_17325	[A dicarboxylic acid dianion that results from the removal of a proton from both of the carboxylic acid groups of 3-hydroxy-3-methylglutaric acid.]
phytol	CHEBI_17327
Hemiparesis	HP_0001269	[Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.]
Somnambulism	HP_0025236	[Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.]
Parasomnia	HP_0025234	[An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep.]
Hyporeflexia	HP_0001265	[Reduction of neurologic reflexes such as the knee-jerk reaction.]
Reduced tendon reflexes	HP_0001315	[Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.]
Choreoathetosis	HP_0001266	[Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).]
Dysarthria	HP_0001260	[Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.]
neurodevelopmental disorder with central and peripheral motor dysfunction	MONDO_0032698
hereditary thrombocytopenia with normal platelets	MONDO_0017057
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	MONDO_0030035
epilepsy, progressive myoclonic, 11	MONDO_0030034