Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
dehydroepiandrosterone sulphate measurement	EFO_0007001	[Quantification of dehydroepiandrosterone sulfate (DHEA-S) in a sample. DHEA-S is a metabolite of dehydroepiandrosterone (DHEA), the most abundant circulating steroid hormone in humans.]
metabolite measurement	EFO_0004725	[This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class., The quantification of some metabolite.]
dehydroepiandrosterone sulfate	CHEBI_16814
enthesopathy	EFO_0009666	[A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy], A disorder involving the attachment of a tendon or ligament to a bone]
musculoskeletal system disease	EFO_0009676	[A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern], A disease involving the musculoskeletal system.]
megabladder, congenital	EFO_0010655	[An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero.]
COFS syndrome	MONDO_0008926	[Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.]
DNA repair deficiency	EFO_0008499	[A disease that has its basis in the disruption of DNA repair., DNA repair deficiency refers to any mutation in the repair mechanisms that leads to accumulation of DNA errors and carcinogenesis.]
syndromic microphthalmia	MONDO_0016073	[A microphthalmia that is part of a larger syndrome.]
Gleason score measurement	EFO_0007000	[Quantification of the cytoarchitecture of a prostate cancer sample, used in the evaluation of cancer prognosis. Cancers with a higher Gleason score are generally more aggressive and have a worse prognosis.]
prostate carcinoma	EFO_0001663	[A carcinoma that arises from epithelial cells of the prostate gland.]
eustachian tube disease	EFO_0009667	[A disease involving the pharyngotympanic tube., A disease involving the pharyngotympanic tube. [database_cross_reference: MONDO:patterns/location_top]]
middle ear disorder	MONDO_0003276	[A disease involving the middle ear.]
intellectual developmental disorder with short stature and behavioral abnormalities	EFO_0010652	[An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression.]
ventral part of telencephalon	UBERON_0000204	[Ventral part (base region) of the telencephalon.]
cataract 46 juvenile-onset	MONDO_0008925	[Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.]
early-onset non-syndromic cataract	MONDO_0011060	[Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.]
intellectual developmental disorder with speech delay, autism and dysmorphic facies	EFO_0010653	[An autosomal dominant disorder characterized by mild to severe intellectual disability, developmental delay, delayed or absent speech, hypotonia, short stature, autistic features, and highly variable dysmorphic facial features.]
disorder of ear	MONDO_0021205	[A disease that involves the ear.]
auditory system disease	EFO_1001455	[Pathological processes of the ear, the hearing, and the equilibrium system of the body., A disease involving the auditory system.]