All terms in DOID

Label Id Description
abnormal cell CL_0001061
Dinosauria NCBITaxon_436486
Archosauria NCBITaxon_8492
immunodeficiency 80 DOID_0061051 [A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13.]
immunodeficiency 81 DOID_0061052 [A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33.]
immunodeficiency 82 DOID_0061053 [A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22.]
immunodeficiency 84 DOID_0061054 [A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21.]
immunodeficiency 85 DOID_0061055 [A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12.]
immunodeficiency 86 DOID_0061056 [A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21.]
immunodeficiency 87 DOID_0061057 [A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia.]
immunodeficiency 88 DOID_0061058 [A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21.]
autosomal dominant intellectual developmental disorder 60 with seizures DOID_0061050 [An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.]
obsolete throat carcinoma DOID_2878
nodular degeneration of cornea DOID_2879
obsolete intestinal capillariasis DOID_0050230 [A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea.]
obsolete metastatic neoplasm of parathyroid DOID_1543
obsolete pulmonary capillariasis DOID_0050232 [A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.]
obsolete hepatic capillariasis DOID_0050231 [A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly.]
parathyroid carcinoma DOID_1540 [An endocrine gland cancer located_in the parathyroid glands located in the neck.]
obsolete Acanthamoeba infectious disease DOID_0050234 [A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system.]