Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
pneumoconiosis	DOID_10316	[An interstitial lung disease that is caused by the inhalation of dust.]
X-linked hypophosphatemic rickets	DOID_0050445	[A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.]
rickets	DOID_10609	[A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.]
infantile Refsum disease	DOID_0050444
engineered	BAO_0002057	[The phenotype of an organism that has been derived by genetic modification.]
pachyonychia congenita	DOID_0050449
hereditary mucosal leukokeratosis	DOID_0050448	[A skin disease characterized by a defect in the normal process of keratinization of the mucosa.]
progeria	DOID_3911
greenhouse gas	CHEBI_76413
silicosis	DOID_10325	[A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.]
agranulocytosis	DOID_12987
cicatricial pemphigoid	DOID_11656	[A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.]
leukostasis	DOID_12986
byssinosis	DOID_10323
asbestosis	DOID_10320	[A pneumoconiosis caused by inhalation and retention of asbestos fibers.]
urethra cancer	DOID_734	[An urinary tract cancer that derives_from the tissues of the urethra.]
Osgood-Schlatter's disease	DOID_7489	[A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.]
anthracosis	DOID_10327
siderosis	DOID_10328
organ system benign neoplasm	DOID_0060085	[A benign neoplasm that is classified by the organ system from which it is arising from.]