Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-13477 measurement	EFO_0021351	[Quantification of the amount of X-13477 in a sample.]
Dysmetria	HP_0001310	[A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.]
hereditary hyperferritinemia with congenital cataracts	MONDO_0010952	[Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.]
X-13549 measurement	EFO_0021354	[Quantification of the amount of X-13549 in a sample.]
obsolete_partial duplication of the long arm of chromosome 2	Orphanet_262842
X-13548 measurement	EFO_0021353	[Quantification of the amount of X-13548 in a sample.]
total cortical area measurement	EFO_0008381	[quantification of the surface area of the cerebral cortex, the largest region of the mammalian brain]
TP53 mutation status	EFO_0008382	[quantification of some aspect of TP53 mutation, such as the number of accummulated mutations, determined either through immunohistochemistry or DNA sequencing]
treatment outcome measurement	EFO_0008383	[quantification of some treatment outcome]
X-13435 measurement	EFO_0021350	[Quantification of the amount of X-13435 in a sample.]
tumor necrosis factor receptor II measurement	EFO_0008384	[quantification of the amount of tumor necrosis factor receptor II in a sample]
perceived unattractiveness to mosquitos measurement	EFO_0008380	[quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire]
putamen measurement	EFO_0008389	[Quantification of some aspect of the putamen, part of the basal ganglia of the brain, primarily associated with voluntary movement and reward.]
caudate-putamen	UBERON_0005383	[Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure.]
Charcot-Marie-Tooth disease type 2A1	MONDO_0007308	[Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.]
Charcot-Marie-Tooth disease type 1A	MONDO_0007309	[Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.]
renal-genital-middle ear anomalies	MONDO_0009969
visual acuity measurement	EFO_0008385	[quantification of visual acuity]
Charcot-Marie-Tooth disease type 1B	MONDO_0007307	[A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.]
Charcot-Marie-Tooth disease dominant intermediate D	MONDO_0011909	[Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.]