Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
adult Refsum disease	MONDO_0009958	[A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.]
response to reward	EFO_0008396	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reward stimulus such as food or recreational drugs.]
response to disappointment	EFO_0008397	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of anticipating a reward stimulus such as food or recreational drugs, which is subsequently withheld.]
T wave morphology measurement	EFO_0008398	[Quantification of the morphology of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles]
rapadilino syndrome	MONDO_0009955	[RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.]
mean fractional anisotropy measurement	EFO_0008399	[quantification of some aspects of brain connectivity that can be derived from the diffusion tensor imaging (DTI) dataset.]
progressive bifocal chorioretinal atrophy	MONDO_0010932	[Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.]
Ramon syndrome	MONDO_0009954
leukocyte adhesion deficiency type II	MONDO_0009953	[Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.]
radioulnar synostosis-developmental delay-hypotonia syndrome	MONDO_0009952	[Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).]
congenital radioulnar synostosis	MONDO_0017985	[Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.]
autosomal recessive nonsyndromic hearing loss 4	MONDO_0010933	[An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.]
pyruvate kinase deficiency of red cells	MONDO_0009950	[Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.]
X-13741 measurement	EFO_0021359	[Quantification of the amount of X-13741 in a sample.]
T-B+ severe combined immunodeficiency due to JAK3 deficiency	MONDO_0010938	[Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.]
X-13619 measurement	EFO_0021356	[Quantification of the amount of X-13619 in a sample.]
X-13553 measurement	EFO_0021355	[Quantification of the amount of X-13553 in a sample.]
X-13671 measurement	EFO_0021358	[Quantification of the amount of X-13671 in a sample.]
X-13658 measurement	EFO_0021357	[Quantification of the amount of X-13658 in a sample.]
X-13496 measurement	EFO_0021352	[Quantification of the amount of X-13496 in a sample.]