Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
lacrimal passage granuloma	DOID_10174
early infantile epileptic encephalopathy 8	DOID_0080215	[An early infantile epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.]
optic papillitis	DOID_10175
optic neuritis	DOID_1210	[An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.]
duodenal atresia	DOID_0080216
intestinal atresia	DOID_10486
lysosomal and lipase deficiency	DOID_0080217	[A lipid storage disease characterized by lysosomal and lipase deficiency.]
obsolete tuberculous myelitis	DOID_10173
primary mediastinal B-cell lymphoma	DOID_0080210	[A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis.]
nodal marginal zone lymphoma	DOID_0080211	[A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.]
marginal zone B-cell lymphoma	DOID_0050748	[A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.]
polycystic kidney disease 4	DOID_0080212	[A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene.]
autosomal recessive polycystic kidney disease	DOID_0110861	[A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.]
punctate palmoplantar keratoderma type II	DOID_0080213
primary spontaneous pneumothorax	DOID_0080218	[A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.]
pneumothorax	DOID_1673	[A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall.]
dystransthyretinemic hyperthyroxinemia	DOID_0080219
hyperthyroxinemia	DOID_2855
neuroretinitis	DOID_10176
malignant hypertensive renal disease	DOID_10177