Human Disease List
GET /api/human_diseases/?format=api&offset=3600&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3620&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3580&ordering=-identifier", "results": [ { "identifier": "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia.", "acronym": "IMD71.", "accession": "DI-05117", "synonyms": "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.; PLTEID.; ", "cross_references": "MeSH; D004802.", "definition": "An autosomal recessive disorder characterized by platelet abnormalities, vasculitis, eosinophilia, and predisposition to inflammatory diseases. ", "keywords": null }, { "identifier": "Immunodeficiency 70.", "acronym": "IMD70.", "accession": "DI-05887", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "A primary immunodeficiency clinically characterized by human papillomavirus-associated warts on the hands, feet and face, recurrent bacterial infections, and autoinflammatory features, such as colitis, celiac disease, and retinal vasculitis. Immunologic workup shows decreased CD4+ T cells, decreased CD19+ B cells, and hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with incomplete penetrance. ", "keywords": null }, { "identifier": "Immunodeficiency 7.", "acronym": "IMD7.", "accession": "DI-04031", "synonyms": "Immunodeficiency 7, TCR-alpha/beta deficient.; T-cell receptor-alpha/beta deficiency.; TCR-alpha/beta deficiency.; ", "cross_references": "MeSH; D007153.", "definition": "A primary immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR-gamma/delta, but little or no TCR-alpha/beta. ", "keywords": null }, { "identifier": "Immunodeficiency 69.", "acronym": "IMD69.", "accession": "DI-05886", "synonyms": "IFNG deficiency, autosomal recessive.; Immunodeficiency 69, mycobacteriosis, autosomal recessive.; ", "cross_references": "MeSH; D009164.", "definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. ", "keywords": null }, { "identifier": "Immunodeficiency 68.", "acronym": "IMD68.", "accession": "DI-02015", "synonyms": "MYD88D.; MYD88 deficiency.; Recurrent pyogenic bacterial infections due to MYD88 deficiency.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency characterized by life- threatening, often recurrent, pyogenic bacterial infections, including invasive pneumococcal disease, beginning in infancy or early childhood. ", "keywords": null }, { "identifier": "Immunodeficiency 67.", "acronym": "IMD67.", "accession": "DI-01831", "synonyms": "IPD1.; IRAK4D.; IRAK4 deficiency.; Recurrent isolated invasive pneumococcal disease 1.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency characterized by recurrent, life-threatening systemic and invasive bacterial infections beginning in infancy or early childhood. ", "keywords": null }, { "identifier": "Immunodeficiency 66.", "acronym": "IMD66.", "accession": "DI-05815", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunologic disorder characterized by recurrent viral infections from infancy, associated with impaired neutrophil migration due to defects in cytoskeletal actin dynamics. ", "keywords": null }, { "identifier": "Immunodeficiency 65.", "acronym": "IMD65.", "accession": "DI-05684", "synonyms": "Immunodeficiency 65, susceptibility to viral infections.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines. ", "keywords": null }, { "identifier": "Immunodeficiency 64 with lymphoproliferation.", "acronym": "IMD64.", "accession": "DI-05632", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial, viral and fungal infections, variably decreased numbers of T cells, deficiencies of B and NK cells, and increased susceptibility to Epstein-Barr virus (EBV) infection. Patients may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity. ", "keywords": null }, { "identifier": "Immunodeficiency 63 with lymphoproliferation and autoimmunity.", "acronym": "IMD63.", "accession": "DI-05611", "synonyms": "CD122 deficiency.; Deficiency of interleukin 2 receptor beta.; IL2RB deficiency.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive disorder characterized by immune dysregulation resulting in lymphoid proliferation, dermatitis, enteropathy, autoantibodies, hypergammaglobulinemia, and immunodeficiency with recurrent infections. Patients show increased susceptibility to viral infections, particularly cytomegalovirus disease. ", "keywords": null }, { "identifier": "Immunodeficiency 62.", "acronym": "IMD62.", "accession": "DI-05587", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells. ", "keywords": null }, { "identifier": "Immunodeficiency 61.", "acronym": "IMD61.", "accession": "DI-05546", "synonyms": "Agammaglobulinemia, X-linked, type 2.; AGMX2.; XLA2.; ", "cross_references": "MeSH; D007153.", "definition": "An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood. ", "keywords": null }, { "identifier": "Immunodeficiency 60 and autoimmunity.", "acronym": "IMD60.", "accession": "DI-05539", "synonyms": "BRIDA.; Immunodeficiency 60.; Immunodeficiency and autoimmunity, BACH2-related.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal dominant primary immunologic disorder characterized by intestinal inflammation, recurrent sino-pulmonary infections, impaired lymphocyte maturation, and variably decreased immunoglobulin production. ", "keywords": null }, { "identifier": "Immunodeficiency 59 and hypoglycemia.", "acronym": "IMD59.", "accession": "DI-05441", "synonyms": "Granulocytopenia with immunoglobulin abnormality.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunologic disorder characterized by combined immunodeficiency, granulocytopenia, B-cell and dendritic cell deficiency, recurrent septic infections of the respiratory tract, skin and mucous membranes, and disturbed glucose metabolism. ", "keywords": null }, { "identifier": "Immunodeficiency 58.", "acronym": "IMD58.", "accession": "DI-05329", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired. ", "keywords": null }, { "identifier": "Immunodeficiency 57 with autoinflammation.", "acronym": "IMD57.", "accession": "DI-05328", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency characterized by lymphopenia and recurrent viral, bacterial, and fungal infections. Patients exhibit early-onset inflammatory bowel disease involving the upper and lower gastrointestinal tract, and develop progressive polyarthritis. ", "keywords": null }, { "identifier": "Immunodeficiency 56.", "acronym": "IMD56.", "accession": "DI-03764", "synonyms": "Autosomal recessive primary immunodeficiency IL21R-related.; IL21R immunodeficiency.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class- switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. ", "keywords": null }, { "identifier": "Immunodeficiency 55.", "acronym": "IMD55.", "accession": "DI-05177", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients. ", "keywords": null }, { "identifier": "Immunodeficiency 54.", "acronym": "IMD54.", "accession": "DI-03605", "synonyms": "Familial isolated natural killer cell deficiency.; Natural killer cell and glucocorticoid deficiency with DNA repair defect.; NKCD.; NKGCD.; ", "cross_references": "MeSH; D049914.", "definition": "An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. ", "keywords": null }, { "identifier": "Immunodeficiency 53.", "acronym": "IMD53.", "accession": "DI-05045", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal recessive primary immunodeficiency apparent from early infancy and resulting in recurrent infections, severe autoimmune skin disease rheumatoid arthritis, and failure to thrive. Immunologic workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative response to multiple antigen, T-cell developmental and functional defects, and impaired ability to produce specific immunoglobulins. ", "keywords": null } ] }