Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Serotonin Syndrome	EFO_1001842	[Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)., An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.]
obsolete_recessive X-linked ichthyosis	Orphanet_461
sebaceous of Jadassohn nevus	EFO_1001841	[A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.]
respiratory paralysis	EFO_1001840	[Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.]
Paxillus filamentosus	NCBITaxon_85986
Autosomal dominant primary hypomagnesemia with hypocalciuria	Orphanet_34528	[Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.]
squamous odontogenic tumor	EFO_1001848	[A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez.]
spinal subdural hematoma	EFO_1001847	[Subdural hematoma of the SPINAL CANAL.]
Spinal Osteophytosis	EFO_1001846	[Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS.]
spinal cord compression	EFO_1001845	[Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.]
skin mastocytoma	EFO_1001844	[A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.]
obsolete_familial retinal arterial macroaneurysm	Orphanet_284247
Lilium hybrid division I	NCBITaxon_156532
Ovine herpesvirus 2	NCBITaxon_10398
obsolete_Kallmann syndrome	Orphanet_478	[Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).]
obsolete_KID syndrome	Orphanet_477	[Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.]
obsolete_Joubert syndrome	Orphanet_475	[Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.]
obsolete_Jeune syndrome	Orphanet_474	[Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.]
subphrenic abscess	EFO_1001854	[Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections.]
submandibular gland disorder	MONDO_0001597	[A disease involving the submandibular gland.]