Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
serine/threonine-protein kinase PAK 7 measurement	EFO_0020730	[The determination of the amount of serine/threonine-protein kinase PAK 7 in a sample]
glycogen storage disease VII	MONDO_0009295	[Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.]
adrenomyodystrophy	MONDO_0010288	[Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.]
serine/threonine-protein kinase PIM-1 measurement	EFO_0020731	[The determination of the amount of serine/threonine-protein kinase PIM-1 in a sample]
glycogen storage disease VI	MONDO_0009294	[Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.]
hereditary spastic paraplegia 16	MONDO_0010287	[A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.]
glycogen storage disease V	MONDO_0009293	[Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.]
glycogen storage disease due to glycogen branching enzyme deficiency	MONDO_0009292	[Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.]
obsolete_benign familial mesial temporal lobe epilepsy	Orphanet_163717
glycogen storage disease III	MONDO_0009291	[Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.]
lysosomal glycogen storage disease	MONDO_0017738
Ataxia - hypogonadism - choroidal dystrophy	Orphanet_1180	[Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhäuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term).]
Armfield syndrome	MONDO_0010284	[X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.]
obsolete_early-onset cerebellar ataxia with retained tendon reflexes	Orphanet_1177
Ataxia - tapetoretinal degeneration	Orphanet_1178
eicosapentaenoic acid measurement	EFO_0007760	[The determination of the amount of eicosapentaenoic acid present in a sample.]
obsolete_X-linked progressive cerebellar ataxia	Orphanet_1175
Cerebellar ataxia - hypogonadism	Orphanet_1173	[Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term).]
obsolete_filament	EFO_0005102
delta-6 desaturase measurement	EFO_0007765	[The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of diohomo-gamma-linolenic acid:linolenic acid]