Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Brisk reflexes	HP_0001348	[Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.]
X-12717 measurement	EFO_0021324	[Quantification of the amount of X-12717 in a sample.]
obsolete_Okamoto syndrome	Orphanet_2729
Blepharophimosis-intellectual disability syndrome, Ohdo type	Orphanet_2728
X-12696 measurement	EFO_0021321	[Quantification of the amount of X-12696 in a sample.]
Absent speech	HP_0001344	[Complete lack of development of speech and language abilities.]
X-12680 measurement	EFO_0021320	[Quantification of the amount of X-12680 in a sample.]
alpha-linoleic acid measurement	EFO_0008350	[quantification of the amount of alpha-linoleic acid in a sample]
corneal epithelial cell	BTO_0004298
amyloid deposition measurement	EFO_0008351	[quantification of some aspect of the deposition of amyloid proteins in an organ]
pterin-4 alpha-carbinolamine dehydratase 1 deficiency	MONDO_0009908	[Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.]
dihomo-gamma-linoleic acid measurement	EFO_0008356	[quantification of the amount of dihomo-gamma-linoleic acid in a sample]
autosomal recessive pseudohypoaldosteronism type 1	MONDO_0009917	[Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.]
pseudohypoaldosteronism type 1	MONDO_0019161	[Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.]
docosatetranoic acid measurement	EFO_0008357	[quantification of the amount of docosatetranoic acid in a sample]
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	MONDO_0009916	[Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.]
dorsolateral prefrontal cortex functional measurement	EFO_0008358	[quantification of the function of the dorsolateral prefrontal cortex, an area of the prefrontal cortex strongly implicated in schizophrenia.]
46,XX disorder of sex development-skeletal anomalies syndrome	MONDO_0009915
eicosadienoic acid measurement	EFO_0008359	[quantification of the amount of eicosadienoic acid in a sample]
pseudodiastrophic dysplasia	MONDO_0009914	[Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.]