Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Ataxia	HP_0001251	[Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).]
N-acylethanolamine-hydrolyzing acid amidase measurement	EFO_0008240	[quantification of the amount of N-acylethanolamine-hydrolyzing acid amidase in a sample]
Abnormal muscle tone	HP_0003808
NAD-dependent protein deacetylase sirtuin-2 measurement	EFO_0008241	[quantification of the amount of NAD-dependent protein deacetylase sirtuin-2 in a sample]
neurogenic locus notch homolog protein 1 measurement	EFO_0008246	[quantification of the amount of neurogenic locus notch homolog protein 1 in a sample]
Hordeum vulgare	NCBITaxon_4513
neutral ceramidase measurement	EFO_0008247	[quantification of the amount of neutral ceramidase in a sample]
neutrophil collagenase measurement	EFO_0008248	[quantification of the amount of neutrophil collagenase in a sample]
nidogen-1 measurement	EFO_0008249	[quantification of the amount of nidogen-1 in a sample]
NADPH--cytochrome P450 reductase measurement	EFO_0008242	[quantification of the amount of NADPH--cytochrome P450 reductase in a sample]
natural cytotoxicity triggering receptor 3 measurement	EFO_0008243	[quantification of the amount of natural cytotoxicity triggering receptor 3 in a sample]
neurexophilin-1 measurement	EFO_0008244	[quantification of the amount of neurexophilin-1 in a sample]
Gamstorp-Wohlfart syndrome	MONDO_0007646	[Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.]
X-09108 measurement	EFO_0021209	[Quantification of the amount of X-09108 in a sample.]
aristolochic acid	CHEBI_2825
X-08766 measurement	EFO_0021206	[Quantification of the amount of X-08766 in a sample.]
Sorsby fundus dystrophy	MONDO_0007640	[A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.]
X-08402 measurement	EFO_0021205	[Quantification of the amount of X-08402 in a sample.]
X-09026 measurement	EFO_0021208	[Quantification of the amount of X-09026 in a sample.]
X-08988 measurement	EFO_0021207	[Quantification of the amount of X-08988 in a sample.]