All terms in DOID

Label Id Description
beta-thalassemia major DOID_0080771 [A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.]
beta thalassemia DOID_12241 [A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.]
beta-thalassemia intermedia DOID_0080772 [A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life.]
delta beta-thalassemia DOID_0080773 [A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.]
thalassemia minor DOID_0080774 [A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia.]
plasmablastic lymphoma DOID_0080779 [A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.]
pancreatic intraductal papillary-mucinous adenoma DOID_7851
obsolete recurrent uvea melanoma DOID_7850
obsolete recurrent ovarian germ cell neoplasm DOID_7855
choroid mixed cell melanoma DOID_6525
mixed cell uveal melanoma DOID_6522
ciliary body mixed cell melanoma DOID_6523
autosomal dominant beta thalassemia DOID_0080770 [A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.]
autoimmune cholangitis DOID_0080742 [An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.]
transverse myelitis DOID_0080743 [A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below.]
myelitis DOID_322 [A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.]
antisynthetase syndrome DOID_0080744 [An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases.]
polymyositis DOID_0080745 [A myositis that is characterized by muscle weakness affecting both sides of your body.]
Libman-Sacks endocarditis DOID_0080740 [A nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.]
nonbacterial thrombotic endocarditis DOID_0060068 [An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.]