Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Limb dystonia	Orphanet_93957	[Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia.]
Truncal dystonia	Orphanet_93956	[Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability.]
Benign essential blepharospasm	Orphanet_93955	[Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will.]
X-linked intellectual disability, Hedera type	Orphanet_93952
X-linked dominant intellectual disability - epilepsy syndrome	Orphanet_93951
obsolete_X-linked intellectual disability, Sutherland-Haan type	Orphanet_93950
obsolete_oromandibular dystonia	Orphanet_93958
Abdominal colic	HP_0011848	[A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.]
Blepharospasm - oromandibular dystonia	Orphanet_93964	[Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms).]
Ventricular flutter	HP_0011841	[A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.]
obsolete_Autosomal dominant focal dystonia, DYT7 type	Orphanet_93963	[Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor.]
obsolete_Autosomal dominant cervical dystonia	Orphanet_93962	[Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis.]
obsolete_Laryngeal dyskinesia	Orphanet_93961	[Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions.]
Abnormality of T cell physiology	HP_0011840	[A functional anomaly of T cells.]
obsolete_myelomeningocele	Orphanet_93969
Porphyromonas gingivalis ATCC 33277	NCBITaxon_431947
Premature ovarian insufficiency	HP_0008209	[Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.]
obsolete_Chudley-Lowry-Hoar syndrome	Orphanet_93971
obsolete_Holmes-Gang syndrome	Orphanet_93970
obsolete_anotia	Orphanet_93976