Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
diabetic encephalopathy	MONDO_0000489	[A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.]
shigellosis	EFO_0005585	[Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts., A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.]
antinematodal drug	CHEBI_35444	[A substance used in the treatment or control of nematode infestations.]
cervical dystonia	MONDO_0000481	[Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.]
obsolete_autosomal dominant trichoodontoonychodysplasia-syndactyly	Orphanet_3357
hereditary spastic paraplegia 30	MONDO_0012476	[Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.]
cone dystrophy with supernormal rod response	MONDO_0012475	[Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.]
congenital malabsorptive diarrhea 4	MONDO_0012479	[Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.]
obsolete_isolated trigonocephaly	Orphanet_3366
Trigonocephaly - broad thumbs	Orphanet_3365
mouth floor	UBERON_0003679	[The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified].]
Trichomegaly - retina pigmentary degeneration - dwarfism	Orphanet_3363
obsolete_penis carcinoma	EFO_0005575	[A penile cancer that is located_in the skin or tissues of the penis.]
Trichomegaly - cataract - hereditary spherocytosis	Orphanet_3362
pernicious anemia	EFO_0005576	[Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells., Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells or caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa.]
Trichodysplasia - xeroderma	Orphanet_3361
pseudohermaphroditism	EFO_0005579	[Condition in which an organism is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary ortestis)., A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.]
glomerulosclerosis	MONDO_0000490	[A hardening of the kidney glomerulus caused by scarring of the blood vessels.]
chordate pharynx	UBERON_0001042	[A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED].]
1-naphthyl isothiocyanate	CHEBI_35455