Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Smarca4-deficient sarcoma of thorax	DOID_0080532	[A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex).]
hypermanganesemia with dystonia 2	DOID_0080537	[A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.]
Sweeney-Cox syndrome	DOID_0080538	[A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.]
susceptibility to restless legs syndrome 8	OMIM_615197
restless legs syndrome	DOID_0050425	[A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.]
PEHO syndrome	DOID_0080539	[A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.]
sternum lymphoma	DOID_6762
obsolete intraurothelial neoplasia	DOID_5430
lung lymphoma	DOID_6760
urinary tract papillary transitional cell benign neoplasm	DOID_5433
obsolete skin lymphoma	DOID_6761
Actinobacteria <high GC Gram+>	NCBITaxon_1760
scrapie	DOID_5434
obsolete secondary carcinoma	DOID_4102
obsolete peripheral neuroblastoma	DOID_6764
obsolete canine distemper	DOID_4105	[A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching.]
obsolete rinderpest	DOID_4104	[A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract.]
variant Creutzfeldt-Jakob disease	DOID_5435
obsolete primary Flavobacteriaceae infectious disease	DOID_4107
bile duct adenoma	DOID_5381	[A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.]