Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete West Nile virus infectious disease	DOID_4121	[A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back.]
obsolete desmoplastic small round cell tumor	DOID_6785
pulmonary venoocclusive disease	DOID_5453
obsolete spinal vascular disorder	DOID_5456
obsolete pulmonary vascular disorder	DOID_5455
vulvar childhood botryoid-type embryonal rhabdomyosarcoma	DOID_6789
childhood botryoid rhabdomyosarcoma	DOID_6786	[A botryoid rhabdomyosarcoma that presents in childhood.]
childhood vagina botryoid rhabdomyosarcoma	DOID_6787	[A vagina botryoid rhabdomyosarcoma that presents in childhood.]
laryngeal neuroendocrine tumor	DOID_5457
LEOPARD syndrome 3	DOID_0080550	[A LEOPARD syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.]
thyroid gland anaplastic carcinoma	DOID_0080522	[A thyroid gland carcinoma that is composed of undifferentiated cells.]
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	DOID_0080523	[A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.]
thyroid gland adenocarcinoma	DOID_0080524	[A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.]
differentiated thyroid gland carcinoma	DOID_0080525	[A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.]
Tn polyagglutination syndrome	DOID_0080520	[A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.]
lung non-squamous non-small cell carcinoma	DOID_0080521	[A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.]
bronchiectasis 1	DOID_0080526	[A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12.]
bronchiectasis	DOID_9563	[A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.]
bronchiectasis 2	DOID_0080527	[A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel.]
bronchiectasis 3	DOID_0080528	[A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel.]