All terms in DOID

Label Id Description
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 [An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum.]
intestinal atresia DOID_10486
lysosomal acid lipase deficiency DOID_0080217 [A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.]
obsolete tuberculous myelitis DOID_10173
primary mediastinal B-cell lymphoma DOID_0080210 [A 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 lymphoma DOID_0050748 [A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes.]
organic halide salt CHEBI_51069
organic salt CHEBI_24868
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 [A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits.]
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 [A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.]
hyperthyroxinemia DOID_2855 [A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.]
neuroretinitis DOID_10176 [An eye disease that is characterized by inflammation of the retina.]
malignant hypertensive renal disease DOID_10177
Vascular skin abnormality HP_0011276